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News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… The Undiagnosed Diseases Network (UDN), a clinical research initiative of the … diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they … been described or are unrecognized forms of more common diseases. …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Phenylketonuria is an inherited disorder of metabolism that causes an increase in … Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in … PKU is inherited in families in an autosomal recessive pattern. … Is PKU inherited? … Phenylketonuria is an inherited disorder of metabolism that causes an increase in …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Gaucher disease is an inherited condition caused by alterations in the GBA gene. It …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… of therapies. Sickle cell disease is the most common inherited blood disorder in the United States, affecting … which would produce changes in the DNA that cannot be inherited. In addition to knowing the risks and the benefits, …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common …
Fact Sheet
Sickle cell disease resources for patients