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News Release

New centers to help understand biology, improve diagnoses, of rare mysterious diseases

NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.

… grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … $2.5 million to study what specific genes do in rare, difficult-to-diagnose diseases. In this third round of …

News Release

NIH researchers use a new cell model of a rare disease to develop therapeutic compounds

A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.

… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers … Content … NIH researchers use a new cell model of a rare disease to develop therapeutic compounds … A team from … a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. … Gaucher …

News Release

Facial recognition software helps diagnose rare genetic disease

NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.

… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin … analysis for a possible diagnosis of DiGeorge syndrome, a rare disease. Credit: Paul Kruszka, et al. The researchers … of physical traits of people with many different inherited diseases around the world, including Asia, the Indian …

News Release

Anti-inflammatory drug halts strokes in children with rare disease

NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).

… decreases the risk of stroke in children with a rare genetic disease called DADA2 (deficiency of adenosine … with DADA2 and other autoimmune and autoinflammatory diseases. Researchers published their findings in the April … in strokes. Image Credit: Darryl Leja, NHGRI. DADA2 is a rare disease that presents in childhood, even in children …

News Release

Decades after rare disease diagnosis, family and physician hail genomic breakthrough

In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.

… and his colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). … of helping everyone else affected by CFZS and similar diseases in the future," said Mr. Hanson. "We've come a long … … Related Content … Decades after rare disease diagnosis, family and physician hail genomic …

For Patients and Families

How to Find Reliable Health Information

List of resources to help you find accurate and reliable information on genetic and rare diseases.

… Finding accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult … National Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot …

Clinical Research

The Undiagnosed Diseases Program

The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.

… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) (now the National Center for Advancing Translational Sciences Division of Rare Diseases Research Innovation) and the NIH Clinical …

News Release

NIH researchers discover otulipenia, a new inflammatory disease

NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.

… Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - … (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … the United Kingdom. The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes …

News Release

NIH scientists discover a rare neurological disease involving cellular recycling

Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.

… Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … cellular processes like autophagy,” said Malicdan. A rare disease that involves changes in one gene can help tease … disorders, such as Alzheimer’s disease. Knowledge of this rare neurological disorder could lead to new avenues of …

Profile

For skeletal genomicist Carlos Ferreira, answers are in the bones

Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.

… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. … a good fit for me, and I was hoping to help patients with rare disorders. … Soo: What was it like growing up in … … skeletal genomics, profile, physician scientist, rare diseases, metabolic medicine branch … Carlos Ferreira, M.D., …