Cure SMA Recognizes Judith Melki on the Anniversary of the Discovery of the SMN Gene

During the 2016 SMA Researcher Meeting, the anniversary of the identification of the SMN genes by Judith Melki MD, PhD (Inserm, Universite Paris) was recognized.

Genetic studies of families with a history of SMA allowed researchers to localize the region containing the gene responsible for SMA to the long arm of chromosome 5 in 1992. However, the exact gene missing or mutated in SMA patients was not identified until 1995 when Dr. Melki’s team identified the SMA gene through a technique called positional cloning. This gene, termed Survival Motor Neuron (SMN) gene, was shown to be present on chromosome 5 in two nearly identical copies. These two copies have subsequently been named SMN1 and SMN2, the SMA “backup gene.”

Knowing the SMA-determining gene paved the way for continued SMA research and the development of animal models to study the disease. These advances have ultimately led to the development of potential therapies currently in clinical trials. To honor her monumental achievement, Dr. Arthur Burghes (Ohio State University) presented Dr. Melki with a plaque on behalf of Cure SMA.

Pictured above: Dr. Melki and Dr. Burghes participating in the Researcher Relay Race at the 2016 Annual SMA Conference.

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