Search Results
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 … Journal of Medicine . Nearly 125 million people in the U.S. live with some form of a chronic inflammatory disease. … fellow at NHGRI and lead author of the paper. “That’s when we had the idea of doing it the opposite way. Instead …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… model may inform potential therapeutic options for Down syndrome. … researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version … extra copy of over 200 protein-coding genes to that person’s genome, which causes difficulties with learning, speech and …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… The disease, 22q11.2 deletion syndrome , also known as DiGeorge syndrome and … Paul Kruszka, M.D., M.P.H., a medical geneticist in NHGRI's Medical Genetics Branch . "Even experienced clinicians have … Institute for Pediatric Surgical Innovation at Children's National Health System in Washington, D.C., developed the …
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.
… 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 . … ruled out, they sought answers in the genome, a person’s complete set of DNA. Kastner and his team sequenced gene …
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 … only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous … PFAPA syndrome and two other inflammatory diseases: Behçet’s disease, which causes inflammation of blood vessels, and …
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.
… For many years, Tonya and Cody Hanson's parents didn't know what caused their children to have weak … the phlegm that had to be suctioned from each child's lungs every 15 minutes for the first three years of their … what you have to do," said Janice Hanson, Tonya and Cody's mother. "Each child felt that they were loved by my husband …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… research careers. Dr. Criswell earned a bachelor’s degree in genetics and a master’s degree in public health from the University of California, … February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The team's discovery coincides with findings by an Israeli research … encode the CECR1 gene cause a loss of function of the gene's ability to produce of an enzyme called adenosine deaminase …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… University College of Medicine in Washington, D.C., she's at a critical juncture in her career, trying to determine … impact on patients with genetic disorders. Ms. Iriele's summer project was to assist scientists with building out … This summer, Ms. Iriele focused on patients with Turner syndrome (TS), a chromosomal condition affecting development …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… natural history of numerous diseases, including Proteus syndrome, PIK3CA-related overgrowth syndrome, TARP syndrome, oculofaciocardiodental syndrome, Lenz … abnormal human development and physiology. The laboratory's rare disease group uses an integrated clinical-molecular …