Search Results
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Recessive Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis Bardet-Biedl … Clinical and Molecular Investigations into Ciliopathies Kidney Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Kidney Disease, Polycystic Evaluation of Autosomal Recessive …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… (Herceptin). This therapy works only for women whose tumors have a particular genetic profile that leads to … (Tarceva), work much better in lung cancer patients whose tumors have a certain genetic change. On the other hand, … very well in the 40 percent of colon cancer patients whose tumors have a particular genetic change. Pharmacogenomics may …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… syndromes, pancreatic dysfunction, diabetes, chronic kidney disease, osteoporosis, obesity and retinal … no therapeutic alternative to elective liver or liver-kidney organ transplantation exists for patients with … renal manifestations seen in MMA, specifically progressive kidney failure associated with impairment of proximal tubular …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… the National Institute of Diabetes and Digestive and Kidney Diseases and the Office of the Director at the … . National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) is of part of the NIH, conducts and … diseases; digestive diseases, nutrition, and obesity; and kidney, urologic, and hematologic diseases. For more …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… builds up in various tissues of the body, primarily the kidney. Potentially, it is the most serious complication of FMF, causing kidney failure. In some cases the amyloidosis can develop … of the protein albumin in the urine can be a symptom of kidney disease, along with microscopic hematuria (very small …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… seen in colon cancer, lung cancer, thyroid cancer, brain tumors and some blood cancers. Other patients had mutations …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… codes for a protein that normally suppresses the growth of tumors by arresting cell division. Humans born with mutations … with more than half of human cancers and often lead to tumors in a particular set of tissues. However, when the p53 gene is knocked out in mice, the animals develop tumors in a different array of tissues.Despite these …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… blood pressure), laboratory tests (e.g. lipid levels, kidney function), social determinants profiles (e.g. … of the cohort based on their genotype (e.g. APOL1 chronic kidney disease risk alleles) for a call-back visit for more … health profile (such as: blood pressure, cholesterol, kidney function, diabetes testing) Free CTA to detect …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… low calcium levels (50 percent), differences in the kidney (35 percent), characteristic facial appearance …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… BRAF -targeted therapy strategies," they added. Canine tumors carrying the mutation also offer a new environment for … high frequency of the mutation, examination of the dog tumors might enable us to determine why this particular …