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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/" …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… type of skin cancer, and the genetic condition Waardenburg syndrome type 4. He also identified lysosomal transmembrane …
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 … The NIH group first encountered a patient with the syndrome approximately 10 years ago. The patient, then 3 … in blood vessel walls result. The researchers call the new syndrome, deficiency of ADA2, or DADA2. The enzyme ADA2 is …
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 … including malformation syndromes, such as Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… This summer, Ms. Iriele focused on patients with Turner syndrome (TS), a chromosomal condition affecting development … student from Cameroon, collected images on Fragile X syndrome from physicians around the world and assessed the … and physical characteristics of Cornelia de Lange syndrome, a developmental disorder that is characterized by …
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, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is characterized by … This syndrome consists of four cardinal symptoms: (1) multiple, … Disease, Rare Disease, Tumors, Adiposis Dolorosa, Anders' Syndrome, Dercum-Vitaut Syndrome …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder …
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.
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."