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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. … National Institutes of Health researchers … extra copy of over 200 protein-coding genes to that person’s genome, which causes difficulties with learning, speech and … improve cognition. Importantly, the previous mouse model’s genome contains 45 extra genes that are irrelevant to human …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and Latin Americans. … 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.
… Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, three families have been … ruled out, they sought answers in the genome, a person’s complete set of DNA. Kastner and his team sequenced gene … for the RIPK1 protein, which is involved in the body’s response to inflammation and programmed cell death. To make …
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 … PFAPA syndrome and two other inflammatory diseases: Behçet’s disease, which causes inflammation of blood vessels, and … and Turkish ancestries with the general U.S. population. They performed more detailed analyses of six …
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.
… Jeannine Mjoseth … 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 … Doctors initially misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My …
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 …
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, … abnormal human development and physiology. The laboratory's rare disease group uses an integrated clinical-molecular … the disorders' clinical manifestations, Dr. Biesecker's group takes advantage of the clinical resources available …
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… … Monosomy, Chromosome, Diploid, Genetic Diseasem, Turner Syndrome, Cri Du Chat Syndrome … Monosomy refers to the condition in which only one … monosomy, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. … Monosomy refers to the …
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 …