The latest initiative will offer support to patients suffering from “difficult-to-diagnose” diseases. Credit: Ground Picture/Shutterstock.

Mount Sinai Health System has received a grant from the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH), to set up the first Undiagnosed Diseases Network (UDN) site in the New York metropolitan area.  

This initiative, which is backed by a $3.26m grant over four years, will offer support to patients suffering from “difficult-to-diagnose” diseases. 

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Starting as early as 2025, the centre will accept cases from patients and provide them with intensive genomic study options. 

The funding is set to expand the efforts of the Undiagnosed Diseases Programme, which was previously supported through private donations to The Mindich Child Health and Development Institute at Mount Sinai.  

Mount Sinai noted that the initiative is being co-led by Bruce Gelb along with Manisha Balwani. 

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Gelb is Gogel Family chair and The Mindich Child Health and Development Institute director, and Icahn School of Medicine at Mount Sinai Pediatrics, and Genetics and Genomic Sciences Professor. 

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Balwani is Medical Genetics and Genomics chief at Mount Sinai Health System and Professor of Genetics and Genomic Sciences, and Medicine at Icahn Mount Sinai.  

The co-principal investigators aim to make the UDN’s resources accessible not only to patients in the New York area but also to underrepresented communities in medical research.  

Balwani said: “With our new Center, we aim to shed light on diseases that are not well recognised due to low incidence, document new diseases that will hopefully lead to cures, and uncover rare variations of more common diseases.  

“This grant will enable us to provide the highest level of care, ensuring that patients receive the most advanced diagnostic services available. The goal is to alleviate the burden of these undiagnosed diseases and also bring great satisfaction to patients and providers alike while laying the groundwork for future solutions.”  

To enhance diversity in research, Gelb and Balwani have collaborated with the Institute for Family Health.  

Over the past decade, the UDN has played a crucial role in facilitating diagnoses for more than 650 individuals across the country.  

Founded by the NIH Common Fund in fiscal year 2013, the UDN transitioned to NINDS management in 2023. 

The network now encompasses a group of clinicians and researchers nationwide who employ both basic and clinical research to discover the underlying mechanisms of these mysterious conditions.