Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
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, … A, Nussbaum RL, O'Daniel JM, Ormond K, Rehm H, Watson MS, Williams MS, Biesecker LG. ACMG Recommendations for Reporting …
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.
… 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 …
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.
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 … condition. In addition, it tends to be progressive. … This syndrome consists of four cardinal symptoms: (1) multiple, …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."