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Mukherjee, Anil

Formal Title:

Senior Investigator

Phone:

301-496-7213

Email:

mukherja@exchange.nih.gov

Address:

10 Center Dr Room 9D42, MSC 1830
Bethesda Md 20892-1830
For FedEx use:
Bethesda Md 20892

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Biosketch:

Anil B. Mukherjee, M.D., Ph.D., is a Senior Investigator and Head of the Section on Developmental Genetics, PDEGEN, NICHD. This Section conducts both laboratory and clinical investigations in order to understand the molecular mechanism(s) of heritable neurodegenerative and autoimmune-disorders that affect children. Current research focuses primarily on infantile neuronal ceroid lipofuscinosis (INCL), a devastating neurodegenerative storage disease caused by mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. The laboratory research of Dr. Mukherjee and his colleagues uncovered that PPT1-deficiency leads endoplasmic reticulum and oxidative stress, which mediate neuronal death by apoptosis. A few years ago, researchers in this Section screened a number of small molecules that functionally mimic PPT1. On the basis of the results of their laboratory investigations, this Section was given a “bench-to-bedside award” to conduct a clinical trial to determine if a combined regimen of Cystagon™ (cysteamine bitartrate) and Mucomyst® (N-acetylcysteine) is beneficial for patients with INCL. These studies are currently ongoing. Laboratory investigations to identify non-toxic compounds to suppress nonsense mutations in the PPT1 gene, which account for 31% of children with INCL in the US, are currently being pursued. For in vivo testing of these compounds a mouse model carrying the most common PPT1 nonsense mutations is being generated.

Dr. Mukherjee received his Ph.D. from the University of Utah in Salt Lake City and underwent postdoctoral training in Human Genetics at Columbia University College of Physicians and Surgeons in New York. He then served as an Assistant Professor of Pediatrics and Human Genetics at the State University of New York at Buffalo, Buffalo, N.Y. for 4 years following which he became a medical student at the same university and received his M.D. degree. He obtained postgraduate training in Internal Medicine and after that joined the Biochemical and Developmental Genetics Section of the NICHD as a Clinical Associate. Subsequently, he joined the US Public Health Service as a Medical Officer and was tenured to the position he currently holds. He was elected Fellow of the Medical Sciences Section of the American Association for the Advancement of Science for his scientific achievements. He is also a member of the American Society of Biochemistry and Molecular Biology and the American Human Genetics Society. Dr. Mukherjee received numerous honors and awards, including USPHS Commendation Medal and Lifetime Achievement Award from his Medical School Alumni Association.

Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012
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