Prognostic importance of direct assignment of parent-of-origin via long-read genome and epigenome sequencing in retinoblastoma

Dr. Debarshi Mustafi shares his team’s research leveraging Oxford Nanopore sequencing to determine parent-of-origin of the retinoblastoma gene (RB1), which is correlated with disease severity. The team were able to identify parent-of-origin in both familial and sporadic cases, by phasing variants with an imprinted methylation signal. Dr. Mustafi discusses the tremendous potential for this approach to be developed into a clinical test in the future.

Biography

Debarshi 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. Debarshi completed his Ph.D. dissertation work under the tutelage of noted vision scientist, Dr. Krzysztof Palczewski. He completed his ophthalmology residency at University of Southern California/LA County and completed his medical and surgical vitreo-retinal fellowship at University of Washington. He then joined the faculty at UW with his clinical practice at Seattle Children’s hospital. His clinical and research practice focuses on pediatric patients afflicted with blinding diseases such as the ocular cancer retinoblastoma.

Please note: This is independent, investigator-led research using Oxford Nanopore technology. Oxford Nanopore products are for research use only, and not for use in diagnostic procedures.