Academy Public Event to Promote Understanding of Marfan Syndrome

The Academy, the National Marfan Foundation, and Merck host documentary filmmakers and leading geneticists for a screening and panel discussion about a rare genetic disorder.

Published April 14, 2010

Some suspect that Abraham Lincoln had it. Michael Phelps has been tested for it. Playwright Jonathan Larson and Olympic athlete Flo Hyman died from it. Marfan syndrome, whose trademark is very long, thin limbs and digits, is a genetic disorder of the connective tissue that affects about 1 in 5,000 people. While some cases are so severe as to threaten life from birth, milder cases of the disorder can go undiagnosed until adolescence or later. Sometimes adults are not diagnosed until they die suddenly of aortic dissection.

A new documentary film, produced by Tony Award winning choreographer, dancer, and actress Ann Reinking, offers a layperson’s explanation of the medical complications of Marfan syndrome, and portrays the psychosocial aspects of the condition. The film, “In My Hands: A Story of Marfan Syndrome,” co-directed by Brenda Siemer Sheider and Emma Joan Morris and introduced at the Hamptons Film Festival in 2009, chronicles the experiences of adolescents living with the disorder as they struggle with body image issues, surgeries, and other health effects of the disorder. The film, which won the 2009 CINE Golden Eagle Award and the 2010 CINE Special Jury Award, also portrays the beauty of the Marfan body through a dance class that Reinking leads for Marfan kids, including her own teenage son, who is affected by the disorder.

Leading the medical community’s search for a cure for one potentially fatal aspect of Marfan syndrome—aortic dissection—are Johns Hopkins cariologist and genetics researcher Hal Dietz and Boston Children’s Hospital pediatric cardiologist Ronald Lacro. Dr. Dietz discovered the fibrillin-1 gene mutation that causes Marfan syndrome and Dr. Lacro is principal investigator of an NIH-funded, Pediatric Heart Network randomized clinical trial comparing the effects of atenolol and losartan in children and young adults with Marfan syndrome.

Losartan has shown early promise in preclinical studies for reducing the aortic dilation that can lead to aortic dissection. The drug, manufactured by Merck, is the first investigational therapy for Marfan syndrome that was borne of a systematic effort to elucidate the pathogenesis of the disease. Dr. Dietz has called it “a rare example where things lived up to the promise that was expressed upon launching the Human Genome Project: If we can identify the genes responsible for a disease, then we will uncover unanticipated mechanisms behind the disease and be in a better position to design rational therapeutic strategies.”

Following a screening of “In My Hands” at the New York Academy of Sciences, Dr. Richard Murray, Vice President for US Regional Medical Affairs at Merck, will moderate a panel discussion among Ms. Reinking and the film’s directors, along with Drs. Dietz and Lacro, and Ben Carpenter, a Wall Street executive whose life was saved by a physician who recognized his undiagnosed symptoms of Marfan syndrome.

WHAT: Screening of the new documentary film, In My Hands: A Story of Marfan Syndrome, and a panel discussion with the leaders in Marfan research, a Marfan patient, and the film’s directors and producer.
WHO: Richard Murray, VP for US Regional Medical Affairs, Merck Hal Dietz, Victor A. McKusick Professor of Medicine and Genetics; Investigator, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine Ronald Lacro, Assistant Professor of Pediatrics, Harvard Medical School, and an Associate in Cardiology at Children's Hospital BostonAnn Reinking, Producer, In My Hands: A Marfan Syndrome Story Brenda Siemer Scheider, Co-director, In My Hands: A Story of Marfan SyndromeEmma Joan Morris, Co-director Ben Carpenter, Lead Investor/Advisor, CRT Capital Group, Marfan patient
WHEN: Wednesday, April 21, 2010 | 6:45 PM - 8:45 PMReception to follow screening and discussion
WHERE: The New York Academy of Sciences 7 World Trade Center, 250 Greenwich St., 40th floor, New York, NY

This event is presented by the New York Academy of Sciences and the National Marfan Foundation with support from Merck. A reception will follow the event. Admission is free, but registration is required and seating is limited. For more information about the event and to read speaker biographies, see: http://www.nyas.org/inmyhands. Media may register to attend by contacting Adrienne Burke, aburke@nyas.org or 212.298.8655.