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Genetics and Its Other
Minorities, Race, and Health Inequities in Medicine
Genetics and Its Other
Minorities, Race, and Health Inequities in Medicine
Speakers: Brian Mustanski (University of Illinois at Chicago), Charles Rotimi (Howard University), Carlos Bustamante (Cornell University), David R. Williams (University of Michigan), Troy Duster (New York University)Presented by the Center for Study of Gene Structure and Function, Hunter College, CUNY and the New York Academy of SciencesReported by Alan Dove | Posted April 14, 2006 Overview
On December 9, 2005, biological and social scientists met at Hunter College for an interdisciplinary discussion of a particularly dangerous area: the intersection of minorities, genomics, and health inequities. The presentations ranged freely across this contentious triple border, exploring everything from drug development technology to racial profiling. The conference, the 19th Annual International Symposium of the Center for the Study of Gene Structure and Function, featured nearly a dozen excellent talks.
Conference organizers took a wide view of the term "minorities," and the discussion spanned everything from the racially profiled drug BiDil to the genetics of homosexuality. Some common themes emerged from these diverse research projects, though, including an enduring division between biological and social scientists on the potential of genomics. While many biologists tend to view the progress of genomics as an unmitigated boon, social scientists remain wary of the new field's potential for misuse.
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Sponsorship
This conference and eBriefing were made possible with support from:
The Gene Center is supported by the Research Centers in Minority Institutions Program of the Division of Research Infrastructure of the National Center for Research Resources of the National Institutes of Health. Grant Number G12 RR-03037
Genes and Sexual Orientation
Speaker:
Brian Mustanski, University of Illinois, Chicago
Highlights
- Sexual orientation appears to have both genetic and epigenetic correlates.
- Specific regions of chromosomes 7, 8, and 10 cosegregate with male homosexuality.
- The Xq28 region of the X chromosome may also help determine sexual orientation, but only in some families.
Genomics comes out
When researchers ask questions about the genetics of race, many people worry that the answers will be misused. When researchers ask questions about the genetics of sexual orientation, however, many people worry that the questions should not have been asked in the first place. To some, even the notion that our preferences for mates have a genetic component is offensive, since it touches on so many intensely personal and private issues. How dare our genes tell us who to love?
Nonetheless, there are tantalizing clues that sexual orientation is at least partly influenced by genetics. Using the new generation of sophisticated genome-mapping tools, Brian Mustanski of the University of Illinois, Chicago, is one of the bold scientists pressing at the edges of this field, and in a brisk but thorough presentation, he described his latest results.
Sexual orientation is at least partly influenced by genetics.
The primary tool for measuring sexual orientation in people is an assessment called the Kinsey scale. Subjects answer questions to describe their own attractions, fantasies, and past sexual partners, leading to a numerical score. Purely heterosexual people score zero, purely homosexual people score six, and varying degrees of bisexuality yield intermediate scores. It is easy to find fault with this self-reporting approach, but hard to devise a better one.
"Genetic research on any topic is only as good as our ability to measure the phenotype that we're interested in studying," says Mustanski. Despite its limitations, the Kinsey scale provides a useful, if rough, guide to human sexual orientation. One thing it reveals, for example, is that homosexuality seems to be very different for men and women. Above the zero (purely heterosexual) point, men are distributed on a U-shaped curve across the scale, while women are distributed on a downward-sloping line. Apparently, men tend toward the extremes of sexual orientation, while women form a smooth spectrum.
False starts and rough roads
Other than Alfred Kinsey's development of his eponymous scale in 1948, the early history of sex orientation research is fraught with ambiguous results and outright errors. In the late 1930s, some researchers believed that gay men were genetically female, an idea discredited shortly after the development of karyotyping techniques. Psychiatrists considered homosexuality a mental illness until 1973.
More recent work on the biology of homosexuality has been more rigorous, but the mechanisms remain murky. Several studies have shown statistically significant familial loading in homosexuality, for both men and women. If you are gay, there is a higher-than-average chance that one of your siblings is, too.
If you are gay, there is an elevated chance one of your siblings is, too.
Pedigree studies and a meta-analysis in the late 1990s suggested that a region of the X chromosome, Xq28, co-segregated with homosexuality, and analyses of twins suggest that sexual orientation is about 60% genetic. Both approaches are controversial. Family analysis focuses on siblings who share both genes and rearing environment, and while twin studies can isolate some of the confounding factors, others may remain entangled.
Animal models have not been much better. "A lot of animal work has consistently shown that prenatal hormones play an important role in determining or patterning later sexual behavior," says Mustanski. Two particularly good candidates identified in animals were the androgen hormone receptor and aromatase, a hormone-processing enzyme. In human studies, though, investigators found no connection between homosexuality and either the androgen receptor or aromatase.
Drawing a better map
Looking for better answers, Mustanski and his colleagues embarked on a microsatellite mapping project. Microsatellites are short, repeated segments of DNA that are distributed throughout the genome. Everyone inherits unique patterns of microsatellites from both parents, and geneticists can identify an individual's microsatellite pattern using relatively straightforward molecular biology techniques. Though the microsatellites themselves do not encode genes, they cosegregate with nearby pieces of coding DNA, providing good signposts. Statistically correlating a particular trait with a particular microsatellite pattern is a big step toward mapping the corresponding genes.
The investigators enrolled 146 families in the study. Each family had at least two gay brothers, and the team sampled DNA from a total of 456 individuals, including parents and siblings. When the analysis was complete, this sizable sample revealed regions of chromosomes 7, 8, and 10 that appear to cosegregate with male homosexuality.
Regions of chromosomes 7, 8, and 10 cosegregate with male homosexuality.
Homosexuality may have an imprinted component, meaning the trait behaves differently depending on whether it is inherited from the mother or the father. The new work reveals a skew in the inheritance of the homosexuality-linked region of chromosome 10; a gene in this region only seems to have an effect when inherited from the mother. The region contains several genes that are known to be imprinted, including some related to neurotransmitter activity and cellular signaling.
The new work also bolsters earlier studies that suggested a link to hormone activity. The homosexuality-linked region of chromosome 8 contains genes for steroidogenic acute regulatory protein (STAR) and gonadotropin-releasing hormone 1 (GNRH1). STAR is one of the regulators of adrenal steroid production, and GNRH1 helps control steroid production in the gonads.
Your results may vary
Mustanski and his colleagues were equally surprised by what their study did not find: a link to Xq28, the region of the X chromosome that had looked so important in earlier analyses. When they re-tested the samples from the earlier studies, though, the link appeared, suggesting that Xq28 is important in determining homosexuality in some families but not others. The earlier studies had deliberately over-sampled families likely to show a maternal linkage, because preliminary evidence had favored an X-linked component.
The variation in results from study to study highlights the need for replication, and one group of researchers is already following up with another genome-wide scan for linkages in families. Meanwhile, other scientists are trying to develop a better animal model for studying the genetics of homosexuality. In a project likely to draw the attention of both serious geneticists and late-night television comedians, investigators have begun to focus on sheep, where behavioral studies have shown that 5% to 10% of the males prefer to mate with other males.
Five to ten percent of male sheep are gay.
Other challenges may have to await better technologies. For example, most of the work on the genetics of sexual preference has focused on men. The differences in Kinsey scores between the sexes, and the apparent importance of maternal imprinting, may make homosexuality much harder to study in women. Despite the challenges, the importance of sexual identity for individuals and society means that for both sexes, the questions are well worth asking.
Using Genomic Tools to Identify Susceptibility Genes for Type 2 Diabetes
Speaker:
Charles Rotimi, Howard University
Highlights
- Type 2 diabetes is especially prevalent among African Americans.
- Specific regions of chromosomes 5 and 19 may contain genes that predispose some people to diabetes.
- Genomics researchers must not focus solely on genetic explanations for complex diseases.
Not too sweet
Genomics promises to help researchers uncover the genetic basis of complex diseases, but applying this powerful new science requires picking a population of people to study, a choice riddled with potential pitfalls. It is important to find a group with a high incidence of a specific disease, but many complex conditions disproportionately affect particular groups for reasons that have nothing to do with genetics.
For example, African Americans suffer unusually high rates of asthma. Using genomics to uncover asthma-related genes in the black population could be scientifically fruitful, but it could also distract attention from more important causes of the disease. Blaming it on genes could help policymakers ignore more embarrassing realities, like the frequent colocation of black communities and major sources of air pollution.
Blaming health disparities on genes could ignore more troubling realities.
Charles Rotimi of Howard University, one of the prime movers of the Human Genome Project and the subsequent HapMap Project, is cautiously optimistic about the potential of genomics. "Depending on how we do this work, we can tell this story in a way that we look at ourselves as coming from one origin and ... we don't reaffirm old prejudices," says Rotimi. In his thorough presentation at Hunter College, Rotimi provided a case study in maintaining this delicate balance.
A bitter pill
Besides their general work on the genome project, Rotimi and his colleagues have a specific interest in diabetes, an ancient disease that is now undergoing a troubling expansion in its incidence. Diabetes is actually a family of diseases with a common pathology: loss of blood sugar control.
In type 1 diabetes, sometimes called juvenile diabetes, an autoimmune response against cells of the pancreas destroys a patient's ability to produce the sugar-regulating hormone insulin. Type 1 diabetes has a strong genetic component, and is largely unrelated to environmental factors. At the other end of the spectrum, pregnant women from any genetic background can acquire gestational diabetes, a condition that usually resolves when the baby is born. Type 2 diabetes seems to lie somewhere in between, arising from a combination of genetic predisposition and environmental factors.
Like many other things, type 2 diabetes is distributed very differently between the races in the United States. The disease causes blindness, limb loss, heart failure, and stroke, and it has become the nation's sixth biggest killer, costing the health care system about $130 billion annually. Blacks have almost double the prevalence of type 2 diabetes as whites.
Diabetes has skyrocketed in lockstep with obesity rates.
The prevalence of type 2 diabetes has skyrocketed throughout the developed world in the past decade, in lockstep with obesity rates. Though researchers are still dissecting the mechanism, the link between the two is relatively clear. High body fat and a diet rich in processed sugar wears out the insulin response, eventually sending blood sugar control haywire.
Not everyone who gets fat gets diabetes, though, so genetic factors seem to predispose certain people to the disease. In earlier work, Rotimi and others found strong genetic clustering of type 2 diabetes, but the degree of genetic linkage appears to vary between racial groups. "Conditions like diabetes ... are truly complex diseases that are multifactorial at the molecular and the genetic level and also at the environmental level," says Rotimi.
The middle passage
When subtle genetic predispositions interact with countless environmental factors, epidemiologists search for natural experiments to isolate at least part of the problem. Usually, these experiments rely on populations of people who have experienced vast historical transitions. The enormous forced migration from Africa to the Americas a few centuries ago certainly qualifies.
From the 1600s to the 1800s, the equatorial trade winds dictated the logistics of the great European empires. As a result, the majority of people sold into the burgeoning slave trade of the Americas came from a narrow coastal region of West Africa that was convenient to shipping routes. Many modern African Americans are therefore closely related to the Yoruba, a tribe Rotimi and his colleagues worked with in the HapMap Genome Mapping Project. Obesity is relatively rare in West Africa, and so is type 2 diabetes, making the Yoruba and their neighbors ideal subjects for a genetic analysis of the disease. The Yoruba are genetically similar to many African Americans, but they live in a very different environment.
Rotimi and his colleagues have now tested the genotypes of 944 people in a study of type 2 diabetes in West Africans, and their preliminary results are intriguing. The investigators are performing a linkage analysis, searching for the co-inheritance of the type 2 diabetes trait with particular patterns of short tandem DNA repeats and single nucleotide polymorphisms, DNA sequence differences that serve as signposts for genetic mapping. Specific regions of chromosomes 5 and 19 appear to be linked to the disease, a particularly exciting finding because chromosome 19 carries the gene for the insulin receptor.
Specific regions of chromosomes 5 and 19 may be linked to diabetes.
In the next phase of the work, the researchers hope to reap another benefit of studying an African population. Sequence polymorphisms tend to travel in clusters, called haplotype blocks, and the blocks are generally shorter in Africans than in most other groups, probably because African genomes are more ancient and better mixed than those of their European, Asian, and Native American descendants. The shorter blocks should yield a finer genetic map as Rotimi and his colleagues close in on the type 2 diabetes genes.
The big picture
For all the promise of the new work, the researchers remain keenly aware of the danger of overemphasizing genetic factors. For example, the Icelandic biotechnology company DeCODE Genetics recently identified a variant of the enzyme leukotriene A4 reductase that might help explain the higher rates of heart disease found in African Americans. DeCODE hopes to develop a drug to target the variant enzyme, leading some to ask whether the drug would be tested exclusively in African Americans.
"I was wondering, 'Why the question at all?'" asks Rotimi, who worries that using genomic findings to justify race-based clinical trials will distract the public from far more serious problems. "If we are indeed interested in health disparity, then we need to really focus on the things that drive this disparity," he says, foreshadowing an argument that dominated the social science presentations later in the conference.
Genetic factors pale in comparison to systemic racial bias.
As an example, Rotimi cited historical data on incarceration rates for black and white Americans. In 1933, blacks outnumbered whites by 2.5:1 in U.S. jails and prisons. By 1995, that skew had risen to 8:1. "If you changed this, just this ... you will have changed the health of black men so significantly that genomics will pale in comparison," says Rotimi.
Natural Selection on Protein Coding Genes in the Human Genome
Speaker:
Carlos Bustamante, Cornell University
Highlights
- The completion of the chimpanzee genome sequence opens a new chapter in evolutionary biology.
- Statistical algorithms reveal positive and negative selective pressures that caused humans and chimps to diverge.
- Diseases, food, and fermentation may have been major drivers of human evolution.
Monkeys on our backs
Except in certain parts of Pennsylvania and Kansas, the vast diversity of life evolved through natural selection, an astonishingly elegant process first described by New York Academy of Sciences member Charles Darwin. Combining classic evolutionary theory with modern genome sequencing, researchers are now producing powerful tools to study the intersection of genes, race, and disease. In a brisk and intelligently designed presentation, Carlos Bustamante of Cornell University, a major exponent of this new field, described surprising insights from his work comparing the genomes of humans and chimpanzees.
"The completion of the chimp genome is probably one of the most significant events in biomedical research," says Bustamante, adding that "with the completion of the chimp genome and patterns of variation within the human genome, we can begin to answer the philosophical question of what it means to be human, from a real biological perspective."
We are more chimpanzee than anything else.
Humans and chimpanzees are more closely related to each other than either is to other primates; we are more chimp than anything else, and chimpanzees are more human than anything else. The two species only diverged about five million years ago, hardly a tick of the clock in evolutionary time, and they share genomes that are 99% identical. Among the divergent parts of the two genomes, many changes are probably neutral, with no impact on defining separate species. To find the signal of important changes in this noise—the parts that make us human—the researchers needed to distinguish neutral from non-neutral differences between genomes.
Simian statistics
In collaboration with Celera, the company that raced the government genome-sequencing effort in the late 1990s, Bustamante and his colleagues examined a new set of gene sequence data. After completing its consensus genome sequence, Celera re-sequenced all of the genes in 39 different people and one chimp, allowing the investigators to look at single-base differences between individuals as well as differences between humans and chimpanzees.
There are about 30 million sequence differences between people and chimpanzees. Only 1% of the genome actually encodes genes, and DNA is transcribed and translated into proteins using a redundant three-letter code, so many of these DNA differences do not affect the final protein products. Focusing only on protein-coding changes would simplify the problem considerably, but would still leave about 100,000 differences to explore. "It would be fundamentally unfair to put a graduate student to look at each of those amino acid differences," says Bustamante. Instead, the researchers developed a statistical approach.
Neutral changes in DNA tend to occur at a steady rate, providing a molecular clock that can show when species diverged. These random mutations also provide a baseline for identifying non-neutral mutations, which have faced selective pressure. The essence of natural selection is that random mutations come and go, but useful adaptations persist. Based on that idea, Bustamante and his colleagues developed an algorithm to calculate whether a given change is likely beneficial, neutral, or deleterious.
The algorithm can produce a score for any given gene. If the score is negative, the gene has probably experienced negative selection against deleterious mutations; if it is positive, the gene has probably experienced positive selection in favor of beneficial mutations. Neutral selection, the noise of random mutations, scores zero. Feeding the Celera data into the algorithm, the researchers found about 1,100 genes with non-zero scores. Interestingly, there are more than twice as many negative-scoring genes as positive-scoring ones. As evolutionary biologists have long argued, mutations are more likely to be harmful than advantageous.
Deleterious mutations outnumber beneficial mutations two to one.
Our diploid genome often allows harmful mutations to persist, since anyone who inherits at least one good copy of the mutated gene can usually survive and reproduce, passing along either the bad or the good copy. Genetic diseases often afflict the unfortunate offspring who inherit two bad copies of a gene, one from each parent.
Bustamante and his colleagues found that cytoskeletal genes, which encode the structural proteins that reinforce cells, are the most likely to have experienced negative selection. Several known genetic diseases involve cytoskeletal protein defects, and the heavy chain of the myosin cytoskeletal protein seems especially prone to detrimental changes. The researchers propose that myosin, an unusually long gene, can accumulate mutations faster than natural selection can weed them out. With diploid redundancy, only the most disastrous of these changes get eliminated, leaving the others to serve as reminders of evolution's tortuous path.
Smells like humanity
Genetic diseases are obviously bad, but the mutations that distinguished us from chimpanzees probably provided evolutionary benefits—otherwise the two species would not have diverged. With the positively selected genes, Bustamante and his colleagues are starting to glimpse what makes us human.
Making a man instead of a monkey calls for a different developmental plan. Accordingly, about 40 transcription factors, which direct the expression of different genes at different times, have undergone strong positive selection. These changes "are altering developmental programs and leading to genetic differences between humans and chimps," says Bustamante.
Genes involved in the immune response have also undergone positive selection. One in particular, the elaborately named and very important apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 3F (APOBEC3F), shows especially rapid amino acid evolution between chimpanzees and humans. APOBEC3F is an antiviral factor, and some variants of it make people less susceptible to HIV. The chemokine receptor CCR-5 also shows positive selection, and previous studies have revealed that one version of CCR5 confers complete resistance to HIV. Because HIV specifically infects humans, these changes apparently reflect the evolution of both our species and our diseases.
Some changes reflect the co-evolution of our species and our diseases.
Our noses also seem to have taken a new path. Olfaction works through a huge collection of receptors inside the nasal cavity; the greater the diversity of the receptors, the more odors one can detect. Human olfactory receptors underwent strong positive selection as we diverged from chimpanzees, suggesting that an improved sense of smell was evolutionarily important. Bustamante speculates that "humans, for example, are the only species that eats cooked food, so perhaps it is ... fine food that has allowed us to refine our olfactory receptors, or the ability to distinguish different odors may be very important if you're out foraging for food."
Besides diverging from chimpanzees, humans also experienced different selective pressures while migrating to different parts of the world, and the new genomic analysis highlights important changes that occurred in that process as well. For example, genes involved in alcohol metabolism show unusual patterns of variation among the 39 genomes analyzed by Celera. Human tribes that developed fermented drinks may have introduced distinct selective pressures, favoring offspring that could metabolize the intoxicating beverages. Under this theory, descendants of non-brewing tribes would be more likely to harbor deleterious mutations in alcohol-metabolizing genes.
While fine food and drink are certainly important aspects of humanity, the researchers are focusing primarily on medicine. Many known disease genes show negative selection in the new algorithm, so Bustamante and his colleagues are now examining other negatively selected genes their assay revealed. For the millions of people suffering from complex diseases, drugs that target those genes might be worthwhile creations.
Racism and Health: Needed Contributions by Social and Biological Scientists
Speaker:
David Williams, University of Michigan
Highlights
- Scientists need to combine environmental and genetic explanations to understand health disparities in the post-genomic era.
- Perceptions of racism can directly cause physical ailments.
- Housing segregation remains a pervasive fact of African American life, with a direct impact on health inequities.
An integrated approach
Any discussion of race and health in the United States soon encounters a peculiar linguistic problem. The constant need to repeat the words "inequity" and "disparity" dilutes their rhetorical impact. A shortage of sufficiently pungent synonyms makes it nearly impossible to capture the real severity of the skew.
On December 9, 2005, David Williams of the University of Michigan wrestled with this problem while delivering the keynote address for the afternoon conference session of the 19th Annual International Symposium of the Center for the Study of Gene Structure and Function at Hunter College. Kicking off a series of social science presentations, Williams began by describing the stark difference between black and white in American public health.
There is a stark difference between black and white in public health.
African Americans lead whites in 12 of the 15 top causes of death in the U.S. Put another way, a recent analysis revealed that about 97,000 black people die each year who would not have died if there were no health disparities. That's 265 people a day, every day, and the problem is getting worse. For cancer, heart disease, and stroke, the racial skew is wider today than it was in 1950. "We have made little progress as a society in reducing these disparities over time," says Williams.
Traditionally, inequities were ascribed to biological differences between the races, absolving society and leaving clinical researchers to try to fix the problem. As advances in basic science steadily undercut this view, a new paradigm emerged, shifting the blame to socioeconomic differences: blacks are sicker simply because they are poorer. Williams methodically dismantled this notion, while calling for greater collaboration between social and biological scientists to address health disparities.
More than skin deep
Racial categories existed long before anyone knew what a gene was, and as the science of genetics has advanced, it has consistently demonstrated that race is a poor surrogate for real biological differences.
For example, a naive view is that blacks have higher rates of hypertension than whites because of biological differences. However, black Africans have substantially lower rates of hypertension than African Americans, leading to the more nuanced idea that the skew stems from a combination of genetic and environmental factors. Even that may be a stretch, however. A closer look reveals that black Africans have lower rates of hypertension than white Americans, so the environment might be the main determinant.
Why do African Americans have more hypertension than whites?
The misconceptions continue when patients with hypertension go to the clinic. For years, physicians have known that black and white patients respond differently to anti-hypertensive medications. White patients respond better to a regimen of beta-blocker drugs and acetylcholinesterase (ACE) inhibitors, while African American patients respond better to diuretics and calcium channel blockers. Or do they?
In a meta-analysis, researchers discovered in 2004 that there are indeed average differences between black and white patients on the two regimens. However, the standard deviations in the data were two to three times larger than the supposed effects. "The overwhelming majority of blacks and whites had a similar response in terms of these anti-hypertensive medications, which means, then, that simply knowing a patient's race ... does not provide much guidance to a clinician," says Williams.
Turning to socioeconomic data, Williams confirmed that health disparities correlate much more strongly with economic and social class than with race. However, race still has a measurable impact on health even after accounting for socioeconomic status, and Williams argues that this remaining difference is not necessarily biological. Indeed, the close linkages between race and class argue that these factors are interdependent in subtle and complex ways.
White noise
How could race affect health, if not through biological differences? The obvious answer is racism, one of the most powerful and astonishingly persistent themes in American history. Almost a century after the end of slavery, Rosa Parks jump-started the civil rights movement by refusing to surrender her bus seat. Half a century after that, studies continue to show racial bias in virtually every sector of American society, from hiring practices to urban planning. Williams summarized two major ways racism feeds health disparities, but he emphasizes that "it's important to recognize ... multiple [other] mechanisms that are operative."
One problem is the stress produced by perceptions of discrimination. Social scientists measure perceived discrimination through surveys asking about ordinary experiences, like receiving substandard service at a restaurant, being stopped by the police, and getting turned down for a bank loan. The degree to which someone perceives the treatment he or she receives during these events as unfair is an accurate predictor of self-reported health problems.
Perceived discrimination correlates with subclinical cardiovascular disease.
Self-reported health is often an unreliable measure, but follow-up studies found actual medical differences, including higher rates of subclinical cardiovascular disease, in people with strong perceptions of discrimination. "This is important work documenting that discrimination really is linked to fundamental underlying disease processes in the body," says Williams.
Unfortunately, the perception of discrimination cannot be dismissed as paranoia, as field research continues to document clear cases of racism. For example, an audit study in 2004 revealed widespread bias against African Americans in the job market. Pairs of well-dressed applicants with identical resumes applied for entry-level positions at major companies, then waited for callbacks after their interviews. Even when a white applicant told the interviewer he had a felony conviction, he was more likely to get called back than a black applicant with no criminal record.
The wrong side of town
Many forms of racism are difficult to document, but one of the most critical disparities is obvious to anyone with access to census data and a map. In 2000, the dissimilarity index, a measure of black and white housing segregation, stood at 0.66. That means that two-thirds of African Americans would have to move to achieve a statistically random distribution of black and white households in America. Even more than Latinos, Asians, or any other racial group, African Americans live in segregated neighborhoods. Some major urban areas are nearly as segregated as apartheid-era South Africa.
The black and white neighborhoods are separate, and distinctly unequal. Average African American areas have fewer doctors' offices, fewer and less lucrative job opportunities, lower-quality public schools, and less access to desirable services in general than average white areas. In New Orleans, they also had lower elevation.
But it doesn't take a hurricane to turn these structural differences into horrific health disparities. Nationwide, the cause of death with the biggest racial skew is homicide, and a 1995 study identified a consistent set of community correlates for violent crime. Neighborhoods with concentrated poverty, a high proportion of female-headed households, a lack of supervision of adolescent males, and high unemployment reliably produce high murder rates, regardless of which race predominates in the area. Nonetheless, blacks are far more likely than whites to find themselves living in such high-crime areas.
Economic downturns disproportionately affect black neighborhoods.
Black neighborhoods may also suffer more during recessions. An analysis of the 1990-1991 economic slump found that African Americans were the only race to lose jobs. The problem did not appear to be caused by systemic racism, but by corporate choices that were ostensibly race-blind. Retailers like Sears, for example, preferentially closed stores and distribution centers in less profitable markets—markets that almost invariably overlapped with black neighborhoods. "When a group is highly segregated, it's easy to discriminate against that group," says Williams.
The results provide a strong cautionary note for researchers hoping to dissect the genetic basis of complex diseases. Biological scientists and social scientists have traditionally divided themselves into separate camps academically, but as genomics begins studying the complex interactions of race, genes, environment, and society, it may finally be time to integrate these two schools.
The Molecular Reinscription of Race in Medicine and Forensic Science
Speaker:
Troy Duster, New York University
Highlights
- Genomics research is quietly re-incorporating some of the old racial concepts it initially tried to overturn.
- Instead of patient-specific drugs, some pharmaceutical companies are now marketing race-specific drugs.
- When studying racial differences, biologists must be especially cautious of leaping to conclusions.
What color is DNA?
In the summer of 2000, President Clinton held a press conference at the White House to announce the completion of the human genome sequence, an event whose importance depends on what your definition of the word "completion" is. But whether the project was really done at that point or a few years later, scientists at least appeared to agree on one of the fundamental findings: the genome is racially neutral.
Indeed, prominent researchers seemed to make a special effort to pronounce race a social concept, not a biological one, an argument bolstered by the 99.99% identity between the genomes of any two individuals' genomes. The genome sequence was also supposed to undergird a new form of individualized medicine, called pharmacogenomics, in which therapies are tailored to specific patients. Meanwhile, forensic DNA fingerprinting would get a boost from the more robust statistical base of a fully sequenced genome.
Old racial concepts may be creeping back into genomics.
Racial categorization of patients in a clinic, or suspects in a lineup, was supposed to go the way of the poll tax. With the old categories obsolete, the hope was that our biology could be judged not by the color of our skin, but by the content of our chromosomes.
As Troy Duster of New York University pointed out in his presentation, this idealistic gloss covers a much more complicated reality. Rather than being relegated to the biohazard bag, racial concepts could be creeping back into the core of genomics, a development with potentially troubling and far-reaching consequences.
Ask your doctor about segregation
The idea of a race-neutral genome is hard to square with developments like BiDil (hydralazine/isosorbide). Launched by the pharmaceutical company Nitromed at the beginning of 2005, BiDil is a treatment for heart disease—but only for black people. If DNA is colorblind and medicine is becoming truly individualized, why are patients still being separated on the basis of race?
When Nitromed tested BiDil in patients, the large-scale clinical trial showed the drug had no significant efficacy against heart disease. Based on those results, the U.S. Food and Drug Administration (FDA) denied Nitromed's approval application. Rather than going back to the drawing board, Nitromed returned to the data-mining software, and quickly discovered that a subset of patients—the African Americans in the trial—received some benefit from BiDil. The new interpretation persuaded the FDA to approve the drug for use in blacks.
BiDil targets nitric oxide metabolism, and Nitromed researchers now hypothesize that this process may differ slightly in people of African descent, making the drug more potent in that population. African Americans under the age of 65 suffer dramatically higher rates of heart disease than Caucasian Americans in the same age group. Perhaps some of the same biology that underlies the disparity in heart disease rates also underlies the disparity in BiDil response. In other words, maybe BiDil needs to be racialized because the biology of heart disease is racialized.
The FDA and Nitromed investors found that argument convincing, but Duster is skeptical. One problem is that the heart disease statistics vary internationally. Blacks outside the U.S. have heart disease at about the same rates as their white compatriots, strongly suggesting that the epidemiology is driven by culture, not biology. Furthermore, the heart disease disparity in the U.S. equalizes in people over 65, the age group that accounts for the overwhelming majority of the disease.
Non-Mendelian minorities
Unfortunately, public discussions of race tend to be as noisy as artillery battles, but with less nuance. The debate over racial genetics is no exception. Duster advocates reframing the question, so that instead of asking whether racial concepts are inherently good or bad, researchers should ask, "Under what conditions should we use race?"
Under what conditions should biology use racial concepts?
In the case of BiDil, for example, the results in black patients in the original trial could form the basis of a testable hypothesis, rather than a race-based prescription label. "The question for me is, is it nitric oxide deficiency? If this is the case it should be available to all those who have this deficiency; it should not be racialized. What I am opposed to ... is the notion that we can [get] a molecular understanding of race with this kind of research,"
says Duster.
Some scientists argue that race can be a surrogate marker for medically relevant traits. Sickle-cell disease, for example, correlates with black skin. However, as geneticists have known since the early 1900s, gene linkage is often imprecise, especially between complex genotypes. Even the single point mutation of the sickle-cell trait sometimes occurs in white patients. Diseases that involve multiple genes interacting with the environment are probably impossible to link reliably to racial markers.
The social context of race exacerbates the problem by preventing good experimental controls. Traditionally, social scientists control measurable factors such as income and social class, then look for differences between races. Some biologists skip the next link in the causal chain, assuming that class-controlled racial differences can only be explained by biology. "I think it's a mistake to leap from the outcome data back to genotype," says Duster.
That leap skips a vast territory of overt and covert racial differences that are entirely environmental, but not connected to income or class. "If you get stopped [by police] eight more times than whites on average, if you get followed around at Neiman-Marcus, if you get fewer bank loans from the Philadelphia banks ... you might develop hypertension," says Duster.
Opinions of difference
When did genomics shift its emphasis from our similarities to our differences? Duster pinpoints a major transition in 1999, when prominent researchers began promoting the idea of cataloging racial polymorphisms across the genome. The initial effort, led by the public-private SNP Consortium, focused on mapping thousands of single nucleotide polymorphisms (SNPs) between individual genomes. When scientists found that these single-base differences tend to cluster together, the project evolved into the haplotype map, or HapMap.
Police are now developing racial profiles from DNA samples.
More recently, several pilot projects have shown, unsurprisingly, that certain haplotypes tend to be more common in particular races. Police forces are now testing SNP-based technologies to develop racial profiles from DNA samples at crime scenes. While that could lead to more solved crimes, it could also amplify the egregious racial disparities in everything from traffic stops to incarceration.
According to Duster, most of these recent developments in racialized genomics have occurred out of public sight. Only a hopeless idealist could expect genomics to solve racism completely, but with more open discussion of the technology's implications, it might at least avoid becoming part of the problem.
Open Questions
Genes and Sexual Orientation
- Do the same genetic regions highlighted in human studies also affect sexual orientation in sheep?
- To what extent does epigenetic imprinting influence homosexuality?
- Does homosexuality have the same genetic correlates in women as in men?
Using Genomic Tools to Identify Susceptibility Genes for Type 2 Diabetes
- Which genes in chromosomes 5 and 19 are most closely associated with elevated diabetes risk?
- How do diet, exercise, and body weight interact with the genetic components of type 2 diabetes?
- Can West African population studies also identify genetic components for other complex diseases affecting African Americans?
Natural Selection on Protein Coding Genes in the Human Genome
- What other negatively-selected genes are involved in disease pathogenesis?
- To what extent do alcohol metabolism defects explain racial disparities in alcoholism?
- What other pathogens have influenced the divergence of immune system genes in humans and chimpanzees?
Racism and Health: Needed Contributions by Social and Biological Scientists
- Do people with strong perceptions of discrimination have other preclinical physical findings?
- In what ways are ongoing suburban and exurban sprawl affecting housing segregation?
- What are the relative contributions of genetics, racism, and socioeconomic status to health disparities?
The Molecular Reinscription of Race in Medicine and Forensic Science
- How can biologists uncover meaningful results in genomics without re-entrenching old racial concepts?
- Will watchdog groups be allowed to monitor the development of DNA-based racial profiling by police?
- Should the FDA permit companies to market additional race-based drugs?
The Meaning of Race in Science and Society
- To what extent is race being used as a biological classification in science?
- What assumptions do scientists make when they compare races and how do these assumptions affect scientific conclusions?
- To what extent do societal and institutional values related to race affect the selection of scientific problems considered worthy of research and the development of hypotheses to be tested?
- Should race be used as a scientific variable in biological studies?
- How should multiracial identity be accounted for in the design, interpretation, and application of scientific research?
- How can race be applied validly to research studies that, in many cases, are designed to improve health conditions for specific populations?
Web Sites
AcademyHealth
A professional society for health services researchers, policy analysts, and practitioners, AcademyHealth promotes interaction across the health research and policy arenas through conferences, reports, newsletters, and educational programs.
African Society of Human Genetics
The Society's aim is to equip the African scientific community and policymakers with the information and practical knowledge they need to contribute to the field of genetics research and to attract global attention to the efforts of African scientists.
American Sociological Association
A nonprofit association dedicated to advancing sociology as a scientific discipline and profession serving the public good.
Center for Afro-American and African Studies (CAAS)
The CAAS at the University of Michigan serves as an academic department in the areas of African Studies, African American Studies, and Afro-Caribbean Studies. It is one of the few programs in the country to combine African Studies with the study of the people and cultures of the African diaspora.
Center for the Study of Gene Structure and Function
A consortium based at Hunter College that brings together biologists, chemists, biopsychologists, biophysicists, and bioanthropologists working within the CUNY system. Additional information about this conference is available on their Web site: Minorities, Race, Genomics and Health Inequities: What Are the Connections?
Institute for the History of the Production of Knowledge (IHPK)
The IHPK, at New York University, is a nondegree program designed to encourage faculty and students to explore the changing configurations of disciplines, methodologies, and technologies that have shaped knowledge in the ancient and modern worlds.
The International Haplotype Mapping Project
The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom, and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals.
Just Garcia Hill
A web resource for professional minority scientists, designed to foster networking, collaboration, and mentoring. Provides information for undergraduates, graduate students, postdoc fellows, and scientists in academia, industry, and government.
MacArthur Foundation Research Network on Socioeconomic Status and Health
The mission of the Network is to enhance understanding of the mechanisms by which socioeconomic factors affect the health of individuals and their communities.
National Human Genome Center at the College of Medicine of Howard University
The center serves as a comprehensive resource for genomic research on African Americans and other African diaspora populations, and is distinguished by a diverse social context for framing biology as well as the ethical, legal, and social implications of knowledge gained from the Human Genome Project and research on genome variation.
Articles
Genes and Sexual Orientation
DuPree, M. G., B. S. Mustanski, S. Bocklandt, et al. 2004. A candidate gene study of CYP19 (aromatase) and male sexual orientation. Behav. Genet. 34: 243-250.
Hamer, D. H., S. Hu, V. L. Magnuson, et al. 1993. A linkage between DNA markers on the X chromosome and male sexual orientation. Science 261: 321-327.
Hu, S., A. M. Pattatucci, C. Patterson, et al. 1995. Linkage between sexual orientation and chromosome Xq28 in males but not in females. Nat. Genet. 11: 248-256.
Mustanski, B. S., M. G. Dupree, C. M. Nievergelt, et al. 2005. A genomewide scan of male sexual orientation. Hum. Genet. 116: 262-278.
Mustanski, B. S., M. L. Chivers & J. M. Bailey. 2002. A critical review of recent biological research on human sexual orientation. Annu. Rev. Sex Res. 13: 89-140.
Using Genomic Tools to Identify Susceptibility Genes for Type 2 Diabetes
Helgadottir, A., A. Manolescu, A. Helgason, et al. 2006. A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat. Genet. 38: 68-74.
The International HapMap Consortium. 2005. A haplotype map of the human genome. Nature 437: 1299-1320. FULL TEXT
Permutt, M. A., J. Wasson & N. Cox. 2005. Genetic epidemiology of diabetes. J. Clin. Invest. 115: 1431-1439. FULL TEXT
Rotimi, C., R. Cooper, G. Cao, et al. 1994. Familial aggregation of cardiovascular diseases in African-American pedigrees. Genet. Epidemiol. 11: 397-407.
Natural Selection on Protein Coding Genes in the Human Genome
Bustamante, C. D., A. Fledel-Alon, S. Williamson, et al. 2005. Natural selection on protein-coding genes in the human genome. Nature 437: 1153-1157.
Gilad, Y., C. D. Bustamante, D. Lancet & S. Paabo. 2003. Natural selection on the olfactory receptor gene family in humans and chimpanzees. Am. J. Hum. Genet. 73: 489-501. FULL TEXT
Pollinger, J. P., C. D. Bustamante, A. Fledel-Alon, et al. 2005. Selective sweep mapping of genes with large phenotypic effects. Genome Res. 15: 1809-1819.
Williamson, S. H., R. Hernandez, A. Fledel-Alon, et al. 2005. Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc. Natl. Acad. Sci. USA 102: 7882-7887. FULL TEXT
Racism and Health: Needed Contributions by Social and Biological Scientists
Glaeser, E. L. & J. L. Vigdor. 2001. Racial segregation in the 2000 census: promising news. The Brookings Institution Survey Series (April). FULL TEXT (PDF, 590 KB)
Iceland, J and DH. Weinberg 2002. Racial and ethnic residential segregation in the United States: 1980-2000. Census 2000 Special Reports. Series CENSR-3. FULL TEXT (PDF, 106 KB)
Kaugman, J. S., R. A. Durazo-Arvizu, C. N. Rotimi, et al. 1996. Obesity and hypertension prevalence in populations of African origin. Epidemiology 8: 217-218.
Krieger, N. 1994. Epidemiology and the web of causation: has anyone seen the spider? Soc. Sci. Med. 39: 887-903.
Massey, D.S. 2004. Segregation and stratification: a biosocial model. DuBois Review: Social Science Research on Race 1: 1-19. 2004.
Sampson, R. J. & W. J. Wilson. 1995. Toward a theory of race, crime, and urban inequality. In Crime and Inequality. J. Hagan and R. Peterson, Eds. Stanford University Press, Stanford, CA. FULL TEXT (PDF, 525 KB)
Sehgal, A. R. 2004. Overlap between whites and blacks in response to antihypertensive drugs. Hypertension 43: 566-572. FULL TEXT
Troxel, W. M., K. A. Matthews, J. T. Bromberger & K. Sutton-Tyrrell. 2003. Chronic stress burden, discrimination, and subclinical carotid artery disease in African American and Caucasian women. Health Psychol. 22: 300-309.
Williams, D. R. & C. Collins. 2001. Racial residential segregation: a fundamental cause of racial disparities in health. Pub. Health Rep. 116: 404-416. FULL TEXT (PDF, 175 KB)
The Molecular Reinscription of Race in Medicine and Forensic Science
Cooper, R. S., K. Wolf-Maier, A. Luke, et al. 2005. An international comparative study of blood pressure in populations of European vs. African descent. BMC Medicine 3: 2. FULL TEXT
Devlin, B. & N. Risch. 1992. Ethnic differentiation at VNTR loci, with special reference to forensic applications. Am. J. Hum. Genet. 51: 534-548.
Duster, T. 2005. Race and reification in science. Science 307: 1050-1051.
Evans, W. E. & M. V. Relling. 1999. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286: 487-491.
Klag, M. J., P. K. Wheaton, J. Coresh, et al. 1991. The association of skin color with blood pressure in U.S. blacks with low socioeconomic status. JAMA 265: 599-602.
Lowe, A. L., A. Urquhart, L. A. Foreman & I. W. Evett. 2001. Inferring ethnic origin by means of an STR profile. Forensic Sci. Int. 119: 17-22.
Ossorio, P. & T. Duster. 2005. Controversies in biomedical, behavioral, and forensic sciences. Am. Psychol. 60: 115-128. FULL TEXT (PDF, 191 KB)
Books
Brown, M. K., M. Carnoy, E. Currie, et al. 2003. Whitewashing Race: The Myth of a Color-Blind Society. University of California Press, Berkeley, CA.
Amazon | Barnes & Noble
Duster, T. 2003. Backdoor to Eugenics, 2nd edn. Routledge, New York.
Amazon | Barnes & Noble
Featured Speakers
Brian Mustanski, PhD
University of Illinois at Chicago
email | web site | publications
Brian Mustanski is an assistant professor of psychiatry at the University of Illinois at Chicago. His research focuses on identifying genetic and environmental factors that influence risky sexual behaviors and commonly co-occurring problem behaviors, such as substance abuse and disruptive behavior disorders. He also works on developing and implementing methodologies for using the Internet to conduct reliable research on sexuality.
Mustanski earned his PhD in 2004 from Indiana University and joined the faculty of the University of Illinois at Chicago in 2005. He has earned the R. J. Kantor Outstanding Graduate Student Research Award from the Indiana University Department of Psychology and was named a National Science Foundation Graduate Research Fellow in 2001.
Charles Rotimi, MPH, PhD
Howard University
email | web site | publications
Charles Rotimi is the director of genetic epidemiology for the National Human Genome Center at the College of Medicine of Howard University in Washington, D.C. Rotimi investigates the genetic and environmental factors that affect diseases prominent in Africans and those of African ancestry, such as diabetes, hypertension, and obesity. Under Rotimis direction, Howard University is working to build a database of pedigrees of people of African origin. This database is intended to enhance the study of complex diseases common in these populations. It will also provide a resource for further examination of the historical dispersal of humans from Africa. Rotimi has also been active in examining the issues raised by the study of genetics and race and how scientists obtain and interpret the consent of their subjects.
In addition to these research pursuits, Rotimi is dedicated to increasing the number of minority investigators in genetic epidemiology. He started a program to train West African scientists in using technology to enhance their application of biostatistics to epidemiological research. He is also involved in programs to provide genetics training to American minority students in Mississippi and in the Washington, DC area.
Rotimi has contributed to diverse scientific and health organizations. He currently serves as the president of the African Society of Human Genetics. He has worked on the steering committee for the Baltimore-Washington Public Health Consortium and he is a principal investigator for the National Human Genome Research Institutes International Haplotype Mapping Project. As an undergraduate, he studied at the University of Benin in Nigeria; he later moved to the United States and earned a master's degree in health care administration from the University of Mississippi. He went on to study at the University of Alabama at Birmingham, where he earned his doctorate in epidemiology.
Carlos Bustamante, PhD
Cornell University
email | web site | publications
Carlos Bustamante is an assistant professor of biological statistics and computational biology at Cornell University under their Genomics Initiative. Bustamante has done extensive research on detecting and interpreting the action of evolution on the genome. His work has examined the genomes of such diverse organisms as humans, chimpanzees, Arabidopsis, and rice. He has also developed and applied methods for elucidating evidence for positive selection in the human genome, including comparative work with the recently published chimpanzee genome. One specific area of Bustamantes methodological study is the use of Bayesian inference to aid in the modeling of evolutionary processes.
Bustamante currently serves on the editorial board for the journal Bioinformatics, and is a member of the Task Force on Evolutionary Genomics at Cornell. He earned all of his degrees at Harvard University, including a masters degree in statistics and a doctorate in biology in 2001. He has held his current position at Cornell University since 2002, and was a visiting scholar at the Institute for Pure and Applied Mathematics at UCLA in 2004. He currently has major grants from the NIH and NSF.
David R. Williams, MPH, PhD
University of Michigan
email | web site | publications
David Williams is the Harold W. Cruse Collegiate Professor of Sociology at the University of Michigan. He is also a research professor in the sociology department and a professor of epidemiology at the School of Public Health at the University of Michigan. Williamss research examines how socioeconomic status, discrimination, and other social phenomena affect personal health. He has described disparities between the health of black Americans and the American public in general. His work goes on to try to establish links between the minority social experience and the health issues prominent in minority populations.
Williams earned his undergraduate degree at The Caribbean Union College, Trinidad, and completed his PhD in sociology at the University of Michigan in 1986. In his accomplished career, he has written or coauthored numerous papers, served on the boards of various organizations, earned many awards, and reviewed submissions for dozens of journals.
In addition to his professorial roles at the University of Michigan, Williams is also director of the South Africa Initiatives Office of the Center for Afro-American and African Studies, and the codirector of the Survey Research Center at the Research Center on Religion, Race, and Health. He is also a member of the core scientific panel of the MacArthur Foundation Research Network on Socioeconomic Status and Health. He is currently a board member for AcademyHealth, a health research and policy organization, a member of the Institute of Medicine of the National Academy of Sciences, and a member of the advisory board of the Health Policy Institute at the Joint Center for Political and Economic Studies. A student award was named in his honor at his undergraduate alma mater, The Caribbean Union College, Trinidad. In 2004 he was ranked as one of the top ten 10 most cited researchers in the social sciences in the past decade by ISI Essential Science Indicators.
Troy Duster, PhD
New York University
email | web site | publications
Troy Duster is a professor of sociology at the Institute for the History of the Production of Knowledge and the department of sociology at New York University. He has written extensively on how science has informed our ideas of race as well as how race must be considered within science. His work insists that, even if race may not be apparent at the genomic level, it certainly exists as a social construct. Duster has studied the role of race in many elements of society beyond molecular biology, including the campus, the penal system, and the labor market.
Duster has published extensively in the sociological literature, and has contributed to such biological publications as The International Haplotype Mapping Project in Nature. His book Backdoor to Eugenics (1990) was reprinted in 2003. His most recent book is Whitewashing Race: The Myth of a Color-Blind Society, which he coauthored.
Duster has served as a member or on the boards of numerous bodies and has earned many awards. Currently, he works is on the board of directors of the National Coalition of Universities in the Public Interest, and the Humanities Research Institute at the University of California, Berkeley. In 2004 he was elected to a term as president of the American Sociological Association. Before moving to NYU in 1999, Duster was a professor in the sociology department at UC Berkeley for twenty 20 years; for much of that time he was also the director for the universitys Institute for the Study of Social Change. He completed an undergraduate degree in journalism in 1957 and he earned his PhD in sociology at Northwestern University.
Lisa Bowleg, PhD
University of Rhode Island
email
Lisa Bowleg is a social psychologist and associate professor in the department of psychology at the University of Rhode Island. Her research and publications focus on: (1) multiple minority stress, resilience, and coming out issues among Black, gay, lesbian bisexual and transgendered people (LGBT); and (2) the influence of social structural factors (e.g., racism, poverty, incarceration) and gender role and sexuality factors on sexual risk in Black/African American communities.
Bowleg's honors and awards include a 2004 Wayne F. Placek Investigator Development Award for her LGBT research; the 2002 Diversity Award for Faculty Excellence in Leadership and Service, University of Rhode Island Multicultural Center; the 2000 Dr. Margaret Stetz Woman of Distinction Award from the Women's Center, Georgetown University; the 1999 Louise Kidder Early Career Award from the Society for the Psychological Study of Social Issues, American Psychological Association; and a 1999-2001 Visiting Professorship at the Center for AIDS Prevention Studies, University of California, San Francisco. She is a member of the American Psychological Association, the Association for Women in Psychology, board chairperson for the Center for Lesbian and Gay Studies, and an elected member of the American Psychological Association's Committee on Psychology and AIDS.
Harold P. Freeman, MD
Ralph Lauren Center for Cancer Care and Prevention
Memorial Sloan-Kettering Cancer Center
web site | publications
Harold Freeman is founder and medical director of the Ralph Lauren Center for Cancer Care and Prevention in Harlem, New York. He is currently a senior advisor to the director of the National Cancer Institute (NCI). He holds the academic rank of professor of clinical surgery at Columbia University College of Physicians and Surgeons. Freeman is one of the foremost international authorities on interrelationships among poverty, culture social injustice and cancer and is the leading voice on cancer disparities.
For twenty-five years, Freeman was the director of surgery at Harlem Hospital Center. For a five year period ending in September 2005, he held the position of an associate director of the NCI and founding director of the NCI Center to Reduce Cancer Health Disparities. Freeman served as national president of the American Cancer Society (ACS) from 1988-1989. He was the chief architect of the American Cancer Society's initiative on cancer in the poor.
Freeman served as Chairman of the United States President's Cancer Panel (PCP) for eleven years, and was appointed for four consecutive three-year terms to the panel. He was elected to the Institute of Medicine of the National Academy of Sciences in 1997. Beginning in 1990, Dr. Freeman pioneered the "Patient Navigation Program." This program which he developed in Harlem has proved to be a successful model to reduce disparities in access to diagnosis and treatment of cancer particularly among poor and uninsured people. Based primarily on the Patient Navigation model created by Dr. Freeman in Harlem, "The Patient Navigator, Outreach and Chronic Disease Prevention Act" was enacted by The Congress and signed by The President in June 2005.
Freeman earned his MD at Howard University, where he also completed residency training in surgery. Subsequently he was a senior resident in cancer surgery at Memorial Sloan-Kettering Cancer Center. Among selected awards he has received are the following: The Mary Lasker Award for Public Service; Medal of Honor National American Cancer Society; Special Recognition Award of the American Society of Clinical Oncology; Champion of Prevention Award of the National Centers for Disease Control and Prevention; The Lifetime Achievement Award of Time Inc. Health; and The Betty Ford Award of The Susan Komen Breast Cancer Foundation.
Cecil B. Pickett, PhD
Schering-Plough Corporation and Schering-Plough Research Institute
web site
Cecil Pickett is senior vice president of Schering-Plough Corporation and president of the Schering-Plough Research Institute, the pharmaceutical research arm of Schering-Plough Corporation. He was appointed to his present position in March 2002. He joined Schering-Plough Research Institute in 1993, as executive vice president, discovery research, responsible for the planning, management and oversight of Schering-Plough's new drug discovery programs across all therapeutic areas, and for coordinating those programs with other research and commercial components in the Company.
Pickett came to Schering-Plough Research Institute from Merck Research Laboratories, where he served as senior vice president for basic research. During his 15-year employ at Merck & Co., Dr. Pickett held various positions of increasing responsibility, including research fellow, biochemical regulation; associate director, department of molecular pharmacology and biochemistry; director, department of molecular pharmacology and biochemistry; executive director of research at the Merck Frosst Center for Therapeutic Research, Montreal; and vice president of the Center. Pickett received his PhD in cell biology from the University of California, Los Angeles.
Dr. Pickett has been published extensively in leading research journals and has been a frequent speaker at scientific symposia and conferences. His awards and honors include the UCLA Alumni Association Award for Scholarly Achievement and Academic Distinction (1976); Macy Scholar, Marine Biological Laboratories, Woods Hole, Mass. (1978); first Robert A. Scala Award and Lectureship in Toxicology of Rutgers University and the University of Medicine and Dentistry of New Jersey (1993); Distinguished Lecturer, Jonsson Comprehensive Cancer Center, UCLA (1995); and the CIIT Centers for Health Research Founders' Award (2001).
Dr. Pickett has served as a member of the U.S. Food and Drug Administration (FDA) Science Board, the Advisory Committee to the Director of the National Institutes of Health and The National Cancer Policy Board of the Institute of Medicine. He currently serves as a member of the National Academies Committee on Science, Engineering and Public Policy and a member of the Institute of Medicine Forum on Drug Discovery, Development and Translation. He was elected to the Institute of Medicine of the National Academy of Sciences in 1993 and also is a member of The American Society for Cell Biology, American Society of Biochemistry & Molecular Biology, American Association for Cancer Research, and American Association for the Advancement of Science.
Additional conference participants
Jill Bargonetti, PhD
Hunter College, City University of New York
email | web site | publications
Molecular biologist Jill Bargonetti is an associate professor at The Hunter College Center for the Study of Gene Structure and Function in the Department of Biological Sciences, and chaired the symposium planning committee for this conference. In her research, she has focused on the p53 protein and the p53 gene, which assists in the suppression of tumor cells. Her research group investigates how an inherited single nucleotide polymorphism (SNP) in the mdm2 gene causes a predisposition to cancer by inactivating the p53 protein while it is associated with DNA in cancer cells.
Prior to arriving on the Hunter College campus in 1994, Bargonetti was a postdoctoral fellow at Columbia University. She was a visiting professor at The Rockefeller University in 2002. Bargonetti holds a PhD in molecular biology from New York University. Awarded the prestigious Presidential Early Career Award for Scientists and Engineers by President Bill Clinton in 1997, Bargonetti has received numerous research grants from the National Science Foundation and the National Institutes of Health as well as grants from the American Cancer Society and the Department of Defense Breast Cancer Research program. She was a member of the National Cancer Policy Board from 2002 until 2005 (a board of the Institution of Medicine and National Research Council of the National Academies).
In 2001, Bargonetti received a New York City Mayor's Award for Excellence in Science and Technology and an Outstanding Woman Scientist Award from the Association for Women in Science. She also received the 1998 New York Voice Award, given to those who have made a significant improvement to the quality of life in New York City, and the 1997 Kathy Keeton Mountain Top Award from the New York branch of the NAACP. In December 2004, Working Mother magazine profiled her as one of the nation's "Stellar Moms" and in May 2005 both NYU and SUNY Purchase gave her distinguished Alumna awards.
Robert P. Dottin, PhD
Hunter College, City University of New York
email | web site | publications
Robert Dottin is professor of biology at Hunter College of the City University of New York, and director of the Center for the Study of Gene Structure and Function. The Gene Center is a consortium that brings together biologists, chemists, biopsychologists, biophysicists, and bioanthropologists working within the CUNY system. Research at the Center spans a broad range including the determination of structure of proteins and nucleic acids by X-ray diffraction and molecular modeling, the characterization of protein-protein interactions involved in signal transduction, and the investigation of mechanisms that regulate neuron functioning and regeneration.
Dottin is also director of Just Garcia Hill, an online community of minority scientists that works to increase the number of minorities entering science careers and to celebrate the many contributions made by minority scientists. Dottin earned his PhD at the University of Toronto and completed his postdoctoral fellowship at the Massachusetts Institute of Technology.
Erwin Fleissner, PhD
Hunter College, City University of New York
publications
Erwin Fleissner is professor emeritus of biology and former dean of sciences and mathematics (1987-1998) at Hunter College, City University of New York. Before coming to Hunter he was a member of the Sloan-Kettering Institute for Cancer Research, where he discovered the protein composition of retroviruses and did research on the roles of cell-derived genes in cancers caused by such viruses in animals.
Sidney A. McNairy, Jr., PhD, DSc
National Center for Research Resources, National Institutes of Health
email | web site | publications
Sidney McNairy is associate director in the National Center for Research Resources (NCRR), a branch of the National Institutes of Health that supports and develops state-of-the-art biomedical research resources that are critical to the nation's biomedical scientists. He is also director of the Division of Research Infrastructure (DRI), where provides oversight management for the Research Centers in Minority Institutions (RCMI) Program, the Institutional Development Award Program, an Animal Facilities Improvement Program, and the Research Facilities Improvement Program.
McNairy was a professor of biochemistry for 10 years at Southern University in Baton Rouge, Louisiana. During his tenure at Southern University, he also served as the Director of the Health Research Center, and was a visiting scientist at Charles Pfizer, Eli Lily, General Electric, Standard Oil of California, and the Centers for Disease Control and Prevention. He began his federal career in 1975 with the National Institutes of Health (NIH), Department of Health and Human Services (DHHS). He was responsible for a number of innovative programs that help strengthen biomedical research infrastructure at both emerging and research-intensive biomedical institutions throughout the nation. He has also been a leader in developing programs that address health-disparities and health-related science education for K-12 students and the general public.
McNairy has received numerous awards and honors, including an honorary doctorate degree and designation as an Old Master by his alma mater Purdue University, as well as honorary doctorate degrees from Texas Southern University, Jackson State University and Morehouse School of Medicine. He currently serves on the Board of Trustees and is a member of the Golden Parade of alumni at LeMoyne-Owen College. He received the NIH's Director's Award, is a member of federal government's Senior Executive Service, and was selected by Harvard University's John F. Kennedy School of Government to participate in the Program for Senior Managers in Government. In 2002, he was the first recipient of the Frederick C. Greenwood Award, given in recognition of his meritorious service to the RCMI grantee community.
Harvey L. Ozer, MD
New Jersey Medical School—University Hospital Cancer Center
email | web site | publications
Harvey Ozer obtained his MD degree and initial research training at Stanford Medical School. He has had a long and productive career in basic and translational research focusing on the molecular basis of cancer and aging. He has coupled excellence in science with a strong commitment to mentorship at the college, graduate, and postgraduate levels. He has served on multiple review panels and advisory boards for the NIH, HHMI, and academic institutions.
In 1977 after holding positions at NIH and other research institutions, he joined the faculty at Hunter College as professor of biological sciences; he was named the first Thomas Hunter Professor of Science and Mathematics in 1983. He also served as program coordinator for the Center for Gene Structure and Function. He continues to be involved in the RCMI as a member of the External Advisory Board at CCNY.
In 1988, he assumed the position as chairman of the department of microbiology and molecular genetics at New Jersey Medical School (NJMS) of the University of Medicine and Dentistry of New Jersey. In 2004, he became director of the new NJMS—University Hospital Cancer Center in Newark and associate dean of the oncology program at the medical school. Among his honors, he was appointed by the Governor of New Jersey to the New Jersey State Commission on Cancer Research.
Jennifer J. Raab, JD
Hunter College, City University of New York
email | web site
Jennifer Raab, president of Hunter College, is a lifelong New Yorker whose career has included high-profile positions in government, public service, civic affairs and the law. Since taking the helm as the College's 13th president, she has built upon its strong foundation, refining its mission, overseeing its academic programs and spearheading its growth and development as one of the world's leading urban centers of higher education.
Prior to her appointment at Hunter in June 2001, Raab served for seven years as chairman of the New York City Landmarks Preservation Commission, the New York City agency that protects and preserves the City's historic structures and architectural heritage. Named to the post by Mayor Rudolph Giuliani in 1994, she won praise from many quarters for her ability to achieve consensus among the diverse constituencies affected by the Commission's regulatory activities.
John Ruffin, PhD
National Center on Minority Health and Health Disparities
email | web site | publications
John Ruffin is the director of the National Institute of Health's National Center on Minority Health and Health Disparities. He is a well-respected leader and visionary in the field of health disparities who has devoted his professional life to improving the health status of minority populations in the United States and to developing and supporting educational programs for minority researchers and health care practitioners. He has served as the Associate Director for Minority Programs in the Office of Minority Programs; and as Associate Director for Research on Minority Health in the Office of Research on Minority Health. As the NIH federal official for minority health disparities research, he has planned and brought to fruition the largest biomedical research program in the nation to promote minority health and other health disparities research and training. He has also spearheaded the development of the first comprehensive Health Disparities Strategic Plan at NIH.
His lifelong commitment to academic excellence, improving minority health and promoting training and health disparities research, has earned him distinguished national awards. Ruffin has received an honorary doctor of science degree from Spelman College, Tuskegee University, and the University of Massachusetts, Boston. He has been recognized by the National Medical Association, the Society for the Advancement of Chicanos and Native Americans in Science, the Association of American Indian Physicians, the Hispanic Association of Colleges and Universities, the Society of Black Academic Surgeons, and the National Science Foundation. The John Ruffin Scholarship Program is an honor symbolic of his legacy for academic excellence bestowed by the Duke University Talent Identification Program. He has also received the Samuel L. Kountz Award for his significant contribution to increasing minority access to organ and tissue transplantation, the NIH Director's Award, the National Hispanic Leadership Award, the Beta Beta Beta Biological Honor Society Award, the Department of Health and Human Services' Special Recognition Award, and the U.S. Presidential Merit Award.
Alan Dove
Alan Dove earned his PhD in microbiology from Columbia University and is now a science writer and reporter for Nature Medicine, Nature Biotechnology, and Journal of Cell Biology. He also teaches at the NYU School of Journalism.
Special thanks to Jake Edelstein for his contributions to this eBriefing.
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