Marya Sabir, BS

Medical Genetics Branch, NHGRI, NIH

Pioneering research in FSASD research and winner of 2023 Translational Award

In the realm of medical science, the journey from fundamental research to practical, clinical applications is often long and arduous. Recognizing and encouraging this vital transition, the Dr. Richard and Vera Siegel Translational Award has been a beacon of inspiration for researchers dedicated to bridging the gap between the laboratory and the patient's bedside. The 2023 recipient of this prestigious award is a testament to the relentless pursuit of scientific innovation in the service of human health: Dr. Marya Sabir.  Dr Sabir is a FSASD Consortium member.

Awarded first in 2016 and generously endowed by Dr. Richard Siegel, co-founder of the NIH M.D./Ph.D. Partnership Program, and his wife, Vera, this annual accolade underscores significant advances in medical science that translate fundamental discoveries into clinical applications. Dr. Mary Dasso, the incoming Scientific Co-Director of the NIH OxCam Scholars Program, presented this year's award to Marya Sabir, a remarkable Ph.D. scholar from the Class of 2019.

Under the mentorship of Dr. William Gahl at the National Human Genome Research Institute and Professor Frances Platt at the University of Oxford, Sabir has been instrumental in the fight against a rare, neurodegenerative disease known as free sialic acid storage disease (FSASD). FSASD, characterized by the accumulation of sialic acid in lysosomes, leads to severe neurological impairments. Sabir's leadership in the investigation of this disease has been nothing short of groundbreaking.

One of her notable contributions is the development of a novel FSASD-specific cell assay. This assay is pivotal for high-throughput drug screening, applicable to both mouse and cell models, and human-derived tissues. It is a critical step in identifying potential therapeutic agents for FSASD. Furthermore, Sabir's detailed characterization of the neurobehavioral and biochemical aspects of the FSASD knock-in mouse model has laid the groundwork for testing potential treatments, including a promising small-molecule drug and gene therapy options.

Beyond her direct work on FSASD, Sabir's research also has broader implications. Variants in genes associated with FSASD are risk factors for Parkinson’s Disease, suggesting that insights gained from FSASD research could ripple out to impact a more common neurological condition.

Upon receiving the award, Sabir expressed her gratitude and dedication. She acknowledged the pivotal role of her mentors and the inspiration drawn from her interactions with the patient community, particularly through the Salla Treatment and Research Foundation. Sabir's vision is clear and ambitious: to bring multiple symptomatic and disease-modifying candidates into clinical trials for FSASD within the next five years.

Currently completing her DPhil studies at Oxford and working on her dissertation, Sabir's journey is far from over. She plans to pursue medical training, focusing on improving bench-to-bedside care for patients with rare neurological diseases. Her commitment and achievements are not only a beacon of hope for those affected by FSASD but also a shining example of the power of translational research in modern medicine. Through her dedication and innovative approach, Marya Sabir is forging a path to new frontiers in the treatment of rare neurological disorders, embodying the spirit of the Dr. Richard and Vera Siegel Translational Award.

Marya Sabir standing next to a women on a stage and receiving an award.