Search Results
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… studies of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … the efficacy of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … Ferguson R, Scurr …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … of Human Genetic Variation Growth Disorder Study of Proteus Syndrome and Related Congenital Disorders Healthy … Clinical Research Pilot Study Mental Disability Study of Proteus Syndrome and Related Congenital Disorders …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… to two different populations of Hermansky-Pudlak Syndrome patients in Puerto Rico. NHGRI researchers are … for a variety of periodic fevers, for Gray Platelet Syndrome and four types of Hermansky-Pudlak Syndrome, for Proteus syndrome, Arterial Calcification due to Deficiency of …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Cancer Drug Reduces Pain, Improves Symptoms in People with Proteus Syndrome More Progress Toward Gene Editing for Kids with …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key … Ferreira: We found that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical … heart. One that he knows particularly well is Saul-Wilson syndrome, a condition so rare that only four patients …
News Release
Cari Young and Julie Nadel join NHGRI as public policy and education fellows.
… Genetics Branch, where she studied the genetic origins of Proteus syndrome. "Being at NIH was a dream," she said. "I was …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services Research) … J. Adams: Novel SOX10 variant causing Waardenburg syndrome without cutaneous pigmentary changes. (Clinical … *2803F. Marjorie Lindhurst: Ubiquitous expression of the Proteus mutation Akt1 c. 49G>A, p. Glu17Lys causes …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… Elephant Man," is thought to have had a disease called Proteus syndrome, which causes overgrowth of skin or other tissues. … showed that mutations occurred in the gene AKT1  in this syndrome. Each person with the syndrome does not look the …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… challenge  December 2013  Genome Advance of the Month - Proteus: Discovering the tiniest disease-causing flaws - and …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Sloan, Ph.D., M.S.  The Phenotype and Etiology of Proteus Syndrome  Julie C. Sapp, Sc.M.  Genetics and Clinical Characteristics of Bardet Biedl Syndrome Julie C. Sapp, Sc.M.  ClinSeq: A Large-Scale …