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Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… the utility of dogs for cancer genetics by mapping kidney cystadeno-carcinoma in German Shepherds, prior to its … of the bladder 27, 28 , and canine transmissible venereal tumors 29 . Prostate Cancer : We have worked for the last … landscape of BRCA2-associated aggressive prostate tumors, defining a signature of an increased somatic mutation …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… identified, clinicians may be able to treat patients whose tumors have specific gene changes with drugs currently …
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 …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… cases, the atypical results can be explained by benign tumors, autoimmune diseases, or blood abnormalities in the … Many of them had lymphoma and, in some cases, rare tumors. Often, the participants are in the early stages of … who were found to not have cancer, some had benign tumors in the uterus, known as fibroids; abnormal chromosomal …
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 …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… methylation reprogramming in testicular germ cell tumors . Genome Res, 26(11):1490-1504. 2016. Li J, Woods SL, …
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 …
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 …