July 31, 2002
MEDIA CONTACT: Wendy Mullins
PHONE: 410-516-4648
E-MAIL: wmullins@jhmi.edu

Children, Families with Marfan Syndrome to Attend Genetics Clinic at Johns Hopkins as Part of International Conference in Baltimore  

Johns Hopkins and the National Marfan Foundation will host an international conference, July 31-Aug. 4, in Baltimore, designed especially for children and adults with Marfan syndrome and other related connective tissue disorders.

The conference will include an all-day genetic and medical clinic at Johns Hopkins, Thursday, Aug. 1, and a morning session on current Marfan syndrome research and medical treatments, at the Marriott Waterfront Hotel in Baltimore, Friday, Aug. 2.

Marfan syndrome is a genetic disorder of the connective tissues. It affects organ systems, including the skeleton, lungs, eyes, heart, and blood vessels. Notably, it causes enlargement of the aorta, which can tear or rupture, leading to sudden death. It is best known for causing disproportionate growth that usually, but not always, results in tall stature.

"We are pleased to join hands with The National Marfan Foundation in providing state-of-the-art care and the latest medical science to the participants, and to convey the excitement that genetic medicine brings to solving medical mysteries," says Aravinda Chakravarti, Ph.D., director of Hopkins’ McKusick-Nathans Institute for Genetic Medicine.

Johns Hopkins manages a comprehensive genetics program to screen for and diagnose Marfan syndrome, to help patients and families cope with the onset and management of the condition, to treat its medical consequences, and to conduct related research. The multidisciplinary care for individuals and families with Marfan syndrome is coordinated through the Genetics Clinics in the Institute for Genetic Medicine at the Johns Hopkins Medical Institutions.

A blood test can now detect the defective gene, as early as in utero, in individuals with a family history of Marfan syndrome. Early diagnosis in children can lead to more effective management of the condition.

Although the gene for Marfan syndrome was discovered in 1991, identifying the cause for the cascading sequence of physical events it sets off in affected children and adults is still under investigation.

"There was this belief that identifying the gene would lead to a revolution in treatment strategies," says pediatrician Hal Dietz, M.D., professor, Institute for Genetic Medicine, and associate investigator, Howard Hughes Medical Institute. "We’ve learned since that multiple events are required for the development of Marfan syndrome. It doesn’t just result from an abnormality in the gene, but as a response to an abnormal gene. This knowledge has allowed us to develop many new therapeutic strategies that can be tested in mice and applied to humans."

Dietz will launch the Aug. 2 series of medical presentations on Marfan syndrome, with an update on related research ongoing at Hopkins. Conducted by leading Marfan experts, presentations on the newest genetic counseling approaches and surgical and management techniques will follow. Among the presenters are Dietz’s colleagues pediatric cardiologist Phil Spevak, M.D.; ophthalmologist Irene Maumenee, M.D., and pediatric orthopedic surgeon Paul Sponsellar, M.D.

Dietz will lead, as well, an Aug. 3 workshop discussion with teenagers on how to deal with the physical and emotional demands of the condition. Similar workshops will be held for younger children and for adults. All will take place at the Baltimore Marriott Waterfront Hotel.

The National Marfan Foundation was founded by Johns Hopkins geneticist Victor McKusick, M.D., honored in the naming of the McKusick-Nathans Institute of Genetic Medicine. McKusick pioneered Hopkins’ comprehensive approach to diagnosing and caring for individuals and families with Marfan syndrome, and developed ongoing related research. The foundation will honor McKusick with its Lifetime Achievement Award on Friday, Aug. 1, during the conference’s opening reception, 5:30 p.m. to 7:30 p.m.

Conference highlights include:

Aug. 1 A two-day genetic counseling, diagnostic and treatment clinic, 7:30 a.m. to 5:30 p.m., Johns Hopkins (pre-scheduled).

Awards ceremony, 6:30 p.m. to 7:30 p.m., Baltimore Marriott Waterfront Hotel. Victor McKusick, M.D., professor of medical genetics, the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Institutions, and founder of the National Marfan Foundation, is to receive its Lifetime Achievement Award.

Aug. 2 Marfan syndrome research and treatment presentations by Hopkins clinicians and researchers, and other leading experts, 8:45 a.m. to 12:45 p.m., Baltimore Marriott Waterfront Hotel.

Aug. 3 Support and coping workshops for children, teens and adults, with Hopkins clinicians, 9:15 a.m. to 12:30 p.m., Baltimore Marriott Waterfront Hotel.

Reporters wishing to cover this event can contact Wendy Mullins, Office of Communications and Public Affairs, Johns Hopkins Children’s Center, at 410-516-4648, or wmullins@jhmi.edu.

For a complete schedule of the conference’s events and speakers, visit the National Marfan Foundation’s Web site at http://www.marfan.org.

Families seeking future genetic evaluations or consultations on Marfan syndrome should contact clinic coordinators Amanda Bergner or Gretchen Oswald at 410-955-3071.



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