Science Highlights
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…
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…
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…
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…
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…
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…
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
