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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/" …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
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.