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Newswise LOS ANGELES (July 24, 2014) Like other major research centers studying genetic causes of uncommon and poorly understood nervous system disorders, Cedars-Sinai maintains a growing collection of DNA and tissue samples donated by patients.
What sets Cedars-Sinais Repository of Neurologic and Neuromuscular Disorders apart is its special emphasis on tissue collection part of its focus on creating future individualized treatments for patients.
One of our major priorities is to advance the concept of personalized medicine. The idea is to take DNA from a patient, look at the cells derived from their tissue, and try to understand why this particular person got this disease. Then we can determine which therapy or therapies would work for each individual by first testing their cells. Many centers look at the genetics; ours is dedicated to looking at the genetics and the patients tissues, combining the two to understand how to treat the disease, said Robert H. Baloh, MD, PhD, director of neuromuscular medicine in the Department of Neurology and director of the ALS Program for research and treatment of amyotrophic lateral sclerosis, or Lou Gehrigs disease.
This individualized treatment approach depends on collaborative efforts among doctors and researchers who treat and study individual diseases and scientists at the Cedars-Sinai Regenerative Medicine Institute, one of a very few hospital-based centers devoted to stem cell research. The teams work together to discover disease-generating molecular and cellular defects, make disease-in-a-dish models and begin to fashion personalized stem cell-based research interventions.
We know that nearly every disease has some genetic component some more than others so we collect DNA for research to identify those genetic elements. But weve also expanded our focus to include the collection of skin and blood samples that can be turned into specialized stem cells. Patients are usually very willing to donate tissue to try and help us understand the causes of their neurologic or neuromuscular disease, said Baloh, a member of the Brain Program at the Regenerative Medicine Institute.
Baloh and colleagues recently showed this approach is feasible, using skin biopsies from patients with ALS. With induced pluripotent stem cells, or iPSCs, they created ALS neurons in a lab dish. Then, inserting molecules made of small stretches of genetic material, they blocked the damaging effects of a defective gene. This provided proof of concept for a new therapeutic strategy an important step in moving research findings into clinical trials.
Baloh, the repositorys principal investigator, has a particular interest in ALS and other neuromuscular disorders, but DNA, tissue and data collection is conducted for Cedars-Sinai neuroscience researchers studying virtually any disease. And its holdings can have widespread influence: Repositories of genetic material enable scientists studying similar diseases at multiple research centers to access patient data in larger quantities than any single site could provide.
We work with many other research institutions across the country to share the samples themselves as well as de-identified information about the patients what disease they have, the severity of their disease, and similar disorder-related details. This improves our ability to find new gene abnormalities, because it cant always be done with just tens or even hundreds of patients. We may need thousands of patients, especially for very rare genetic forms of disease that have very subtle genetic effects. Therefore, we study our own patients in great detail, but we also share our resources more broadly, said Baloh, adding that genetic discoveries often have implications even for patients who dont have genetic forms of disease.
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Tissue Collection Aids Search for Neurologic and Neuromuscular Disease Causes and Cures
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