Meet Rajat Puri | Lead scientist at the JAX Rare Disease Translational Center

Описание: Rajat Puri is a study director for the JAX Rare Disease Translational Center. He studies conditions such as Down syndrome, Glycine decarboxylase deficiency (GLDC), Cyclin dependent kinase like-5 deficiency (CDKL5), channelopathies that include KCNT1 andKCNH1, POLG-mitochondrial disorder and Peroxisomal deficiency disorder (PEX1).

In this short video, Puri shares more about his work with families and foundations to advance research into rare diseases.