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Pankaj B. Agrawal
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Pankaj B. Agrawal, MD, MMSC

Department: Newborn Medicine
Research Centers: Newborn Medicine Research Center
Hospital Title: Assistant in Medicine
Academic Title: Instructor of Pediatrics
Research Area: Orphan/Rare diseases
Congenital myopathies

Research Overview

The goals of my research are to understand the genetic underpinnings of various congenital myopathies and find treatments against these conditions using mouse and zebrafish animal models. After identifying cofilin-2 (CFL2) as the gene mutated in a family diagnosed with nemaline myopathy, I have created mouse and zebrafish models to understand cofilin-2 function and potential therapies. 

In addition, I am working to identify several additional novel genes that when mutated, cause various myopathies. I am a neonatologist at Children’s Hospital Boston and I take care of several babies in the NICU with suspected genetic diseases that do not have a known genetic/molecular basis despite extensive testing. This has always motivated me to work on these orphan diseases. 

With this in mind, I have created a database, the Gene Discovery Core (GDC) of the Manton Center for Orphan Disease Research to enroll patients with orphan diseases. As Medical Director of the GDC, I am working to identify novel gene mutations causative of diseases such as Ohtahara syndrome, ROHHAD syndrome and various mitochondrial disorders. 

About Pankaj B. Agrawal

I am a neonatologist by training, with research interests in identifying the genetic and molecular basis of congenital myopathies (CMs) and various orphan diseases that present in early life. I was recruited to the Harvard Neonatal-Perinatal Medicine Fellowship Program based at Children’s Hospital Boston (CHB) in 2000 as a fellow interested in translational research, after receiving extensive training in neonatology from India and Australia. 

From 2000-03, in addition to neonatology fellowship from CHB, I received Master in Medical Science (MMSC) from Harvard Medical School (HMS). Upon successful completion of fellowship in 2003, I was recruited to the CHB as a Faculty in Newborn Medicine, and was appointed Instructor in Pediatrics at HMS. 

Since 2002, I have been working to identify the molecular genetics of various CMs. I have identified cofilin-2 gene (CFL2) to be mutated in a family of CM. Further, I have created Cfl2-knockout and Cfl2-human mutation knockin mouse models to understand the protein function. I am also using zebrafish as an animal model to knockdown cofilin-2 and rescue it with various cofilin isoforms. 

I am particularly interested in the genetic and molecular basis behind various orphan diseases, especially those presenting in early life. As Medical Director of the Gene Discovery Core, Manton Center for Orphan Disease Research, CHB, I have created an IRB-approved protocol to collect DNA and discarded tissue samples from patients/families with these diseases. We have enrolled >150 families under this protocol in less than 2 years, and I am currently conducting research to identify their genetic basis. 

I have first-authored 3 original publications in the Annals of Neurology (2004), American Journal of Human Genetics (2007) and Human Molecular Genetics (2012) pertaining to CM research, and I have written several co-author papers/reviews/chapters. I have given several plenary talks and presented posters in national conferences including Society for Pediatric Research, American Society of Human Genetics, Clinical Research, New Directions in Biology and Disease of Skeletal Muscle, and New England Conference on Perinatal Research (regional). 

I have received funding from Hearst Fund, HMS (2006-07), NIAMS/NIH (K08, 2007-12), Manton Center for Orphan Disease Research, CHB (2010-11) and Faculty Career Development Award, CHB (2010-12) to pursue my research on CM and orphan diseases. I am a member of the Society for Pediatric Research, American Society of Human Genetics, American Academy for Advancement of Science and Massachusetts Medical Society. I am a member of the core team of neonatologists at CHB. I attend for 1-2 months/year as neonatologist and 3 nights and 1 weekend a month mostly at CHB and occasionally at St. Elizabeth’s Medical Center. I train and supervise neonatal fellows and nurse practitioners in decision-making, neonatal procedures, and parental communications. 

I am Director of Infection Control in the NICU and a leader, NICU Simulation Program for Crisis Resource Management. I have received several awards including Travel Awards from American Federation for Medical Research and Society for Pediatric Research in 2004. I received the first NEST (Neonatal Excellence in Service and Teaching) award by the NICU team, CHB in 2006. I currently spend 75% of my effort dedicated to research, 20% to clinical, 5% to administrative and teaching.

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