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Program Highlights
Thank you

A message to UDN participants and their families

As the current UDN transitions to a new sustainable program for undiagnosed diseases, the NIH UDN Program Working Group wants to take this…

Doctors holding signs with question marks in front of their faces.

A Personalized Approach to Clinical Care Leads to Diagnoses

Rare diseases are a significant health care concern with almost 7,000 rare diseases, affecting more than 25 million Americans and their families. It…

The UDN program awardees.

Initial Outcomes from the Undiagnosed Diseases Network Reveal Promising Number of Diagnoses

Members of the Undiagnosed Diseases Network (UDN) published a summary of the progress that was made by the network during the first twenty months of…

Nerve Cells.

Precision Medicine Approach Reveals Targeted Therapy for Neurological Disorder

A new study from Undiagnosed Diseases Network (UDN) researchers shows how careful study of a genetic condition can be critical for determining the…

Thinking brain.

The Cause of a Rare Neurological Disorder Uncovered by the UDN

Researchers from the UDN have used DNA sequencing efforts combined with laboratory experimental efforts to determine the cause of a previously…

The gender symbols of a female and male.

A Single Mutation Acts as a Molecular Switch for Sex Determination

In humans, sex determination is normally regulated by the inheritance of specific chromosomes, with females inheriting two X chromosomes and males…

Reviewing MRI scans.

Overactive Protein at the Cell Surface May Cause Neurological Symptoms

Researchers from the NIH Undiagnosed Diseases Network (UDN) clinical site published a study of a novel mutation found in a 46-year-old woman…

This page last reviewed on September 13, 2023