Debarshi Mustafi, MD, PhD

Undergraduate Education: BS, University of Chicago, 2007
Medical School: MD, Case Western Reserve University, 2015
Graduate Education: Ph.D., Case Western Reserve University, 2013
Internship: Internal Medicine, University Hospitals of Cleveland, 2016
Residency: Ophthalmology, University of Southern California, 2019
Fellowship: Vitreoretinal Surgery, University of Washington, 2021

Board Certification: American Board of Ophthalmology, 2020

Memberships: American Academy of Ophthalmology (AAO) Washington Academy of Eye Physicians and Surgeons (WAEPS) Association for Research in Vision and Ophthalmology (ARVO)

Subspecialty memberships: American Society of Retinal Specialists

Dr. Mustafi grew up in Chicago and earned his bachelor’s degree with Honors in Chemistry from the University of Chicago. He then matriculated to Case Western Reserve University as part of the NIH Medical Scientist Training Program to earn his M.D. and Ph.D. degrees. Dr. Mustafi completed his Ph.D. dissertation work under the tutelage of noted vision scientist Dr. Krzysztof Palczewski. He was recognized for his dissertation research on the genetic features of the retina in health and disease with a doctoral excellence award.

Upon completion of his internship, he completed his ophthalmology residency at the University of Southern California/LA County. He was awarded the prestigious Heed Fellowship upon finishing residency and completed his medical and surgical vitreoretinal fellowship at the University of Washington.  He then joined the faculty at UW with his clinical practice at Seattle Children’s Hospital and his research laboratory at the Karalis Johnson Retina Center.

Dr. Mustafi has published papers and presented work at national meetings on the topic of retinal degenerative conditions and their genotypic diagnosis. In addition to his clinical practice caring for pediatric patients afflicted with retinal disease, he has an active laboratory dedicated to studying the genotypic features of retinal degenerative conditions and methods to study patient-derived cells to better understand the features causing these vision-threatening diseases. Dr. Mustafi is actively involved in clinical trials and provides patients with information regarding trials that would be beneficial for their condition.In his spare time, Dr. Mustafi enjoys running, golf, traveling, spending time with his wife and kids, and rooting for his beloved Chicago sports teams.

Seattle Children’s Hospital Ophthalmology Clinic
4800 Sand Point Way Seattle, WA 98105
Clinic Phone: 206-987-2177 Clinic Fax: 206-987-2722
Mailing Address: Karalis Johnson Retina Center Box 358058 750 Republican St., F433 Seattle, WA 98109
Academic office phone:  206-616-9305

“My goal is to provide patient centered care to children and their families afflicted with retinal disease. Knowledge of the specific disease-causing genetic variants in patients plays an increasingly important role in the diagnosis and management of disease in an era of emerging options for genetic diseases."

2023 Foundation Fighting Blindness Career Development Award
2023 Alcon Young Investigator Award
2022 Gerber Foundation Research Grant
2019 Heed Ophthalmic Foundation Fellow
2015 Noether Memorial Award for Excellence in Therapeutics, Case Western Reserve University (CWRU)
2015 Martin Wahl Memorial Award for Excellence in Clinical and Research Training, CWRU
2014 ARVO Retina Research Foundation Travel Grant Recipient
2014 Doctoral Research Award, CWRU School of Medicine
2013 Chair’s Scholarship, Gordon Conference in Quantitative Genetics and Genomics 2012 Excellence in Research Award, CWRU Department of Pharmacology
2011 Microscopy Society of America Presidential Student Award
2011 Graduate Student of the Year Award, CWRU Department of Pharmacology
2011 Excellence in Research Award, CWRU Department of Pharmacology
2010 Department of Pharmacology Greenfield Travel Award

Dr. Mustafi is a board-certified ophthalmologist specializing in pediatric vitreo-retinal diseases. He has a special interest in inherited retinal diseases.

The Mustafi lab is investigating the genetic basis of inherited retinal degenerations (IRDs) and potential for therapeutic intervention to prevent the progression of blindness. In the pediatric population, IRDs are a major cause of visual impairment and can be one of the first presenting features of a syndromic condition. Early genetic diagnosis of such conditions may mitigate morbidity and allow appropriate genetic counseling. Identification of disease-causing variants is essential and can lead to more timely and accurate diagnosis in children to properly assess their inclusion in emerging therapies. However, in approximately 20% of patients with well-defined clinical features of an autosomal recessive IRD, only one mutation is identified with initial exome sequencing. In such cases, genome sequencing of the disease gene at increased depth can reveal the second pathogenic variant in non-coding regions of the gene

The Mustafi laboratory is applying established short-read and emerging long-read sequencing technology to better understand pathogenic variants that lead to IRDs. Using blood samples from affected IRD patients and their families, his lab is able to carry out genome sequencing to identify novel pathogenic variants of disease and reconstruct disease haplotypes, which has implications for the interpretation of disease risks. The isolated blood samples can also be used to generate patient-specific stem cells to better study the pathogenicity of disease variants. Overall, the goal of the lab is to uncover the mechanistic details of IRDs to allow the development of targeted therapeutics to benefit patients treated by Dr. Mustafi. 

https://www.mustafilab.org