Search Results
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … JJ, Pike K, & Spentzou G. Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… medical history is consistent with an autoinflammatory syndrome, or if there are other studies that may be more … Fever (FMF) TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) … VEXAS (Vacuoles, E1 ligase, X-linked Autoinflammatory Syndrome) Haploinsufficiency of A20 (HA20) Sideroblastic …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… is involved in the biological steps that help break down food, fats, cholesterol and amino acids. MMUT helps break down food into a chemical byproduct called propionate, which … chose to assess how well the MMUT protein helped break down propionate in both patients who did and not did not …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… researchers identify an altered gene that causes Pendred Syndrome, a inherited form of deafness. 1998 March 1998: Vice … of human chromosome 21, already known to be involved with Down syndrome, Alzheimer's disease, Usher syndrome and Lou … discover a new autoinflammatory disease called CRIA syndrome . November 12, 2019: NHGRI appoints Dr. Benjamin …
Educational Resources
A lysosome is a membrane-bound cell organelle that contains digestive enzymes. Lysosomes are involved with various cell processes.
… are involved with various cell processes. They break down excess or worn-out cell parts. They may be used to …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… A person's genetic makeup affects how their body breaks down certain medicines. Genetic testing can examine certain … enzymes in a person to find out how their body breaks down and removes medicines from the body. Because these liver … less active in some people, they are less able to break down and get rid of some medicines. This can lead to serious …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… side (ipsilateral hand). Sometimes referred to as "Poland syndrome," it is an uncommon condition present at birth … Additional Resources for Poland Anomaly Medscape: Poland Syndrome MedicineNet: Poland Syndrome Medline Plus: Poland Syndrome Genetics Home …
File
… Exploring the Microbiome and Its Connection to Metabolic Syndrome …
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 …