YuLin Zhen, Photography Editor

It’s hard enough to fight something microscopic, but what happens when even its identity is mysterious? That’s the question that doctors are trying to answer at the new Yale Diagnostic Center of Excellence — YDCoE — an on-campus center dedicated to accurately diagnosing and treating rare diseases in underserved communities. 

On Sept. 10, 2024, the National Institutes of Health — NIH — granted a team of doctors from the Yale School of Medicine — YSM — a $3.35 million grant to research genetic testing in rare diseases. 

With an ambitious goal of providing diagnosis services to underserved communities and spearheading cutting-edge research in medicine, the YDCoE combines doctors’ research and clinical expertise with community organizations’ outreach services. 

One of YSM’s major partners is Fair Haven Community Health Care — FHCHC — a local organization focused on serving underserved communities and children in New Haven. 

“There’s really a two-way street that we envision,” Ben Oldfield, a doctor at FHCHC, said. “We’ll refer patients seeking care from us with difficult-to-diagnose disorders, while the genetics department will provide diagnosis education for our clinicians.” 

The study of rare diseases touches many disciplines across medicine, leading to the diversity of the project members; there are doctors in genetics, pediatrics, bioinformatics, data science and more. 

Mark Gerstein, a doctor who specializes in bioinformatics and data science, reaffirmed the interdisciplinary nature of the research. While some clinicians gather data from patients, others conduct research and yet others write code and create models to interpret the data. 

With new technologies in gene-editing and artificial intelligence on the rise, doctors at YSM have shown enthusiasm for developing and implementing technology for diagnosing and treating rare diseases. 

Since many rare diseases are genetic, breakthroughs in gene-editing technology pave the way for not only diagnosing but also potentially curing many rare diseases. 

Yong-Hui Jiang, a genetics researcher and the principal investigator of the YDCoE project, pointed to the new sickle-cell cure developed last December as a source of hope for the future. 

“The sickle cell cure was the first ever FDA-approved therapy involving CRISPR-Cas9 genome editing, and I look forward to applying CRISPR technology for new development disorder cures,” Jiang said. 

CRISPR-Cas9 is a genetic engineering technique used to edit genomes. 

Efficiently categorizing rare diseases also involves finding patterns over similar precedents, and often requires processing large amounts of data. 

Thanks to the progression in computing power, machines costing millions of dollars 10 to 15 years ago can now be utilized for way cheaper and run in much less time, Gerstein pointed out. 

Beyond gathering and interpreting data, communication with patients is important. 

As patients can come from a variety of backgrounds, it is important for doctors to make accurate diagnoses and provide genetic counseling to help families understand genetic conditions and make informed decisions. 

“When analyzing a genetic condition, we must think about more than that individual,” Oldfield said. “The diagnosis of one person can have an impact on the whole family.” 

Despite being spread across numerous fields, when asked what drew them to the project, the doctors the News talked to all indicated a “desire to help others” as the main motivation. 

Jiang spent much of his career working with kids with genetic disabilities, and his passion for helping such patients reach their full potential was his main drive to spearhead this project. 

Monkol Lek, a genetics researcher who had limb-girdle muscular dystrophy himself, which is a weakness of the limb-girdle muscles, dedicates his work to making sure that patients with rare diseases have the best chance to perform their best in life. 

Lek said he reminds his medical students that “every single data point on the spreadsheet is a person whose lives we can change for the better.

The Yale Medical School has received over $500 million in awards and grants from the NIH.