Bringing CNS Members Together to Make Children’s Lives Better


Diana X. BHarucha-Goebel, MD, PhD

Profile written by John Mytinger, MD

Diana X. BHarucha-Goebel, MD, PhD

Dr. Diana Bharucha-Goebel is the 2016 Philip R. Dodge Young Investigator Awardee. This remarkable clinician scientist has shown a unique combination of passionate patient care and dedication to scientific progress. Dr. Bharucha-Goebel graduated with a B.S. in Biology from Muhlenberg College in 2003. As an undergraduate, she was a Humanities Scholar. She attended medical school at Drexel University College of Medicine, where she received the Arnold P. Gold Foundation Fellowship Award for Humanitarian Research (for a project working with patients with ALS), the Maurice C. Clifford Award for Leadership, and subsequently received her M.D. in 2007. She completed her Child Neurology Residency at the Children’s Hospital of Philadelphia in 2012 and received the Barkman Award for her commitment to patient care. With a blooming interest in neuromuscular disorders, she entered a neuromuscular fellowship at the Children’s Hospital of Philadelphia and completed this training in 2013.

From 2013 to 2016, Dr. Bharucha-Goebel served as a clinical research fellow at the National Institutes of Health and Children’s National Health System. As a clinical research fellow, she received extramural funding for her ongoing work in the form of a T32 Grant. This was a critical period of academic development for Dr. Bharucha-Goebel as she honed her clinical and scientific skills in the field of neuromuscular disorders. She has already published several manuscripts that have provided phenotypic data on several neuromuscular diseases. In a 2013 publication in Neurology titled “Severe congenital RYR1-associated myopathy: expanding clinicopathologic and genetic spectrum,” Dr. Bharucha-Goebel was the first author in a manuscript that detailed the severe end of the spectrum of patients with ryanodine receptor 1 (RYR1) gene–related myopathy. In this manuscript, mentored by Dr. Carsten Bönnemann, the authors detailed and expanded the clinical, histologic, and genetic heterogeneity associated with this group of patients. In an ongoing mentorship with Dr. Bönnemann, Dr. Bharucha-Goebel was the first author of a 2015 publication in Neurology titled, “Intrafamilial variability in GMPPB-associated dystroglycanopathy: broadening of the phenotype”. In this work, the authors describe the phenotypic variability in three siblings with this recently described gene mutation.

Dr. Bharucha-Goebel’s work in phenotype data analysis positioned her to create and lead a natural history study to develop disease specific outcome measures in giant axonal neuropathy. Indeed, she has developed a special interest in giant axonal neuropathy under the continued mentorship of Dr. Bönnemann. Dr. Bharucha-Goebel’s work on this topic is already bearing fruit as she has noted that in a cross sectional analysis of this data, motor and electrophysiologic outcome measures correlate strongly with disease severity. This natural history study analysis is ongoing and will provide additional insight into the phenotypic presentation of giant axonal neuropathy. Dr. Bharucha-Goebel has presented her work on giant axonal neuropathy at the 2015 Muscular Dystrophy Association Scientific Conference and the 2016 Annual Meeting of the American Society of Gene and Cell Therapy.

Giant axonal neuropathy is also the focus of her Dodge Young Investigator Award. Her mentors include Dr. Bönnemann and Dr. Kanneboyina Nagaraju. Dr. Nagaraju has expanded Dr. Bharucha-Goebel’s knowledge of intrathecal gene transfer as well as experience in data analysis including ELISpot and anti-AAV9 neutralizing antibody titers. The goal of this project is to create the first in-human AAV9 mediated intrathecal gene transfer study in giant axonal neuropathy to establish safety of this novel approach. Dr. Bharuch-Goebel’s goal is to elucidate the disease pathophysiology and therapeutic approaches for all patients with giant axonal neuropathy, regardless of mutation type. Ultimately, the knowledge garnered from this research may impact our understanding of other neurodegenerative and neuromuscular diseases as well.

Dr. Bharucha-Goebel has proven a worthy recipient of the Philip R. Dodge Young Investigator award. She is now an Assistant Professor at Children’s National Health System and the George Washington University School of Medicine and Health Sciences. Her future is bright and she will undoubtedly make valuable contributions to patient care and the field of neuromuscular medicine.