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NIH Record

NINDS Participates in Variety of Disease Workshops

By Marcia Vital

The National Institute of Neurological Disorders and Stroke is forging stronger alliances with the public, voluntary agencies and patient advocacy groups. Over the past few months, NINDS has participated in several conferences and workshops on rare disorders including Friedreich's ataxia (FRDA), spinal muscular atrophy, Sturge-Weber syndrome, and Batten disease.

Last spring, the institute, in cooperation with the Office of Rare Diseases and the Friedreich's Ataxia Research Alliance (FARA), cosponsored the 1999 International Friedreich's Ataxia Conference on the NIH campus.

"It is important to encourage families with rare disorders to work with the NIH," says NINDS neurologist and program director Dr. Giovanna Spinella. "Voluntary agencies and patient organizations bring to the NIH the energy to help mobilize the patient and scientific communities, which provides the foundation for future research efforts."

"I think we are trying to set the train in motion at this meeting," said FRDA researcher Dr. Robert Wilson. "We have the 50 or 60 top investigators whose research is directly related to Friedreich's ataxia. The future lies in continuing the coordination between basic science and clinical application that has been so well achieved at this meeting."

FARA was founded in 1998 by Ronald and Raychel Barteks and a small group of parents, patients and researchers. "When my son was about 10 years old, he started to show signs of stumbling and difficulties with fine motor skills," says Ms. Bartek. "We thought he might have some minor problem with coordination. We never dreamed that it was a life-shortening neurological disorder. It was a devastating diagnosis."

FRDA is a recessive, genetically inherited, neurodegenerative disorder that strikes about one in every 50,000 persons. The incidence is about two and a half times higher among the Acadian population of South Louisiana, the original home of the Bartek family, than in the general population. Loss of coordination, an unsteady walk, slurred speech, and other symptoms usually appear between the ages of 5 and 15. Most patients need a wheelchair full-time by their late teens or early twenties and most die in early adulthood.

Last May, a spinal muscular atrophy (SMA) patient advocacy group, Andrew's Buddies, held a workshop at the Neuroscience Center on Executive Blvd. The workshop addressed research efforts for SMA, an uncommon, genetically inherited, neuromuscular disease characterized by degeneration of the motor neurons of the anterior horn of the spinal cord resulting in loss of skeletal muscle. The workshop brought together scientists from around the world and from diverse fields to talk about their common interest in SMA. Topics of discussion ranged from genetics and gene therapy to mouse models and accurate diagnostic tests.

"This is a chance for scientists who don't often have the opportunity to talk to each other to get together and thrash out ideas," said Joe Slay, cofounder with his wife Martha of Andrew's Buddies. "If by sponsoring this meeting we can foster the exchange of one useful idea or encourage the collaboration of scientists on a project which may one day lead to treatments for patients with SMA, then we've done our job."

In June, Families of SMA, a patient-advocacy group that provides support to patients and families and also funds research on SMA, held its annual meeting in Milwaukee. Several NINDS scientists attended and participated in the 3-day conference, which covered such topics as financial planning, coping mechanisms for handling grief, social activities for patients with SMA, respiratory complications associated with the disease, and the future of research in the field.

"Spinal muscular atrophy is an important problem and research in this area is progressing rapidly," says Dr. Kenneth H. Fischbeck, chief of the Neuro-genetics Branch, NINDS, who participated in both SMA meetings. "Foundations like Andrew's Buddies and Families of SMA play an important role in heightening public awareness, raising money for research, and encouraging NIH support."

Also in June, the Sturge-Weber Foundation held the International Sturge-Weber Syndrome Symposium in Gaithersburg. Sturge-Weber syndrome is a congenital neurological disorder characterized by a port wine stain birthmark on the face, angiomas (excessive blood vessel growth on the surface of the brain), glaucoma (increased pressure within the eye) and seizures. The symposium covered topics related to the scientific and medical aspects of Sturge-Weber syndrome research.

Also last spring, NINDS, along with the Office of Rare Diseases and the Children's Brain Disease Foundation, cosponsored a workshop on Batten disease, a progressive and degenerative neurometabolic disorder characterized by loss of vision, seizures and gradual deterioration of motor and intellectual functioning. Children who inherit the disease die in their late teens to early twenties. The workshop focused on scientific research on Batten disease with the goals of generating new ideas about pathogenesis, increasing the number of young scientists conducting research on the disease, and spurring the development of effective therapies to combat the disease.


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