Yale School of Medicine recognized by NIH for excellence in genetics of rare diseases

NEW HAVEN, Conn., Sept. 13, 2024 /PRNewswire/ -- Yale School of Medicine (YSM) has received a $3.35 million grant from the National Institutes of Health (NIH) to join the Undiagnosed Diseases Network as a Diagnostic Center of Excellence. The Yale Diagnostic Center of Excellence (YDCoE) aims to enhance genetic testing and diagnosis for Connecticut patients from underserved populations who are living with unexplained symptoms.

The Undiagnosed Diseases Network connects research and clinical sites across the U.S. to improve understanding and treatment of undiagnosed diseases. The Yale center will also help primary care physicians better recognize and diagnose rare diseases.

Globally, approximately 300 million people suffer from rare diseases, defined in the U.S. as a disease affecting fewer than 200,000 patients. These conditions, often genetic, can significantly impact both life expectancy and quality of life.

With over 7,000 known rare diseases, only about 5% have FDA-approved treatments, leaving many patients reliant on symptom management. A proper diagnosis could lead to more precise and effective treatments, including genetic therapies where suitable.

"The challenge is there are so many diseases we have not even made a diagnosis for," says Yong-Hui Jiang, MD, PhD, professor and chief of medical genetics at YSM and principal investigator of the new center. "In medicine, if you don't know what a patient has, it's very challenging to figure out how you can help them."

The project involves the Departments of Genetics, Pediatrics, Internal Medicine, and Biomedical Informatics & Data Science at YSM as well as many investigators, clinical consultants, and research collaborators from Yale New Haven Health, Fair Haven Community Health Care, and Project Access New Haven. 

YDCoE will use a multi-tiered approach to diagnosing suspected rare diseases. Clinicians will review medical records and schedule telemedicine appointments and in-person evaluations, including genetic testing, if an initial diagnosis is not established. 

Clinicians say artificial intelligence (AI) will play a key role at the new center, aiding in more efficient patient history reviews and in-depth genetic analyses. 

"YDCoE speaks to the power of collaboration among clinicians, geneticists, and bioinformaticians across our academic health system in making discoveries and providing answers – and hope – to patients," said Nancy J. Brown, MD, dean of Yale School of Medicine.

SOURCE Yale School of Medicine