Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… Acquired Immunodeficiency Syndrome (AIDS) … AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. … RNA (Ribonucleic Acid), Retrovirus Virus … AIDS … cancers. There is no cure for AIDS, though drugs can slow down and stabilize the disease's progress. … AIDS is a …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… families." The first disorders added to the atlas are Down syndrome and 22q11.2 deletion syndrome. Down syndrome is the most common chromosomal condition, …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 … E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 … use clues in the human genome to discover new inflammatory syndrome … NIH researchers have discovered a new inflammatory …
Talking Glossary
El sÃndrome de Down (también llamado TrisomÃa 21) es una afección genética causada por un error en el proceso que replica y luego divide los pares de cromosomas durante la división celular, error que lleva a heredar una copia extra total o parcial del cromosoma 21 de uno de los progenitores.
… SÃndrome de Down (TrisomÃa 21) … El sÃndrome de Down (también llamado TrisomÃa 21) es una afección genética … del cromosoma 21 de uno de los progenitores. … Down syndrome (also called Trisomy 21) is a genetic condition …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, three families have been … the cause of the illness, a new disease called CRIA syndrome. The results were published in the journal Nature . … cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome.    Although the researchers made the connection …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Hemophilia is a bleeding disorder that slows down the blood clotting process. … People who have hemophilia … Hemophilia … Hemophilia is a bleeding disorder that slows down the blood clotting process. … Hemophilia, Bleeding … Mutation … Hemophilia is a bleeding disorder that slows down the blood clotting process. … Genetic Disorders …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… in inflammation-related genes are associated with PFAPA syndrome … Researchers at the National Human Genome Research … only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
​
… long-term commitment to developing prenatal treatments for Down syndrome. They hypothesize that giving safe and efficacious … our knowledge using RNA sequencing. Prenatal Therapy for Down Syndrome Down syndrome is the focus of prenatal …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Doctors initially misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My … the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five years later, researchers have … laborators-identify-the-genomic-cause-for-careyfinemanziter-syndrome/" …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… Research Program, Bill Gahl, M.D., Ph.D., stepped down from this important leadership position at the end of … both a physician and a scientist. Although he has stepped down as Clinical Director, he will remain at NHGRI to focus … disorders of sialic acid metabolism, Hermansky-Pudlak syndrome, and alkaptonuria. One of Bill's signature …