700 Children's® – A Blog by Pediatric Experts

Looking for Answers: Rare Diseases and Gene Therapy Research

Oct 06, 2014

For parents and families of children with undiagnosed conditions, the road to diagnosis can be a long and frustrating experience. The Office of Rare Diseases Research at the National Institutes of Health reports that there are approximately 7,000 rare diseases known today, and sometimes a diagnosis of a rare disease can take months or even years.

Although the exact cause of many rare diseases are still unknown, most have a genetic component. This means that the problem can be traced to mutations or changes in a single gene or multiple genes. Genes are passed from parents to children, and make proteins that tell the cells of the body what to do and when to do it. Mutations in genes are often passed from one generation to the next, which is why rare diseases can run in families.

This is something that the James family knows all too well. Their 11-year old daughter, Maya, was given a rare disease diagnosis of autosomal recessive spinocerebella ataxia 7 (SCAR 7), the eighth reported case in the world. Maya’s condition is caused by mutations in the same gene that causes Batten Disease, although her exact diagnosis and symptoms are slightly different.

At the Batten Disease Clinic at Nationwide Children’s, a multidisciplinary team of pediatric neurologists, nurse practitioners, registered nurses, social workers and genetic counselors evaluate and care for patients like Maya. Nationwide Children’s is also one of only a handful of organizations in the country that has been designated a Center of Excellence by the Batten Disease Support and Research Association, the largest research and support organization in North America for families that have children with Batten Disease.

At the same time, researchers in the Center for Gene Therapy at Nationwide Children’s are working to improve initial diagnosis and treatment for rare diseases without cures, like Spinal Muscular Atrophy and Mucopolysaccharidosis Type III (also known as Sanfilippo Syndrome). During 2014, researchers began a natural history study of Sanfilippo type A and type B that will help in the preparations for gene therapy-based clinical trials, expected to begin in 2015.

The success of these clinical studies and trials depends a lot on finding more kids with specific diagnoses of rare diseases. And parents of a child with a rare disease diagnosis also benefit from finding other kids with the same diagnosis and having a community of support.

If you are a parent or family member whose child is affected by a rare disease, the National Organization for Rare Disorders has resources and tools that may be helpful. Additional information on clinical programs for neurological disorders and gene therapy clinical studies can be found on the Nationwide Children’s website.

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Tiasha Letostak, PhD
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700 Children’s® features the most current pediatric health care information and research from our pediatric experts – physicians and specialists who have seen it all. Many of them are parents and bring a special understanding to what our patients and families experience. If you have a child – or care for a child – 700 Children’s was created especially for you.