Search Results
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… GCTP Program of Study …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions … from one generation to another. Genomics describes the study of all of a person's genes (the genome). … that describes the study of all of a person's genes (the genome), including interactions of those genes with each …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… Dr. Paul Meltzer at the University of Michigan for the study of sarcomas and solid tumors and then joined the National Human Genome Research Institute (NHGRI) in 1993. At the NHGRI, Dr. … technology provider, the microarray core is involved in a wide range of projects looking at the characterizing of …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
… Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene. … Genomics, Genes, Gene Expression, Human Genome Project … on studying all the DNA of an organism — that is, its genome. Such work includes identifying and characterizing all …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of the uterus to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has … conditions similar to multiple sclerosis. Evidence for an association with cognitive dysfunction is growing. Heart …
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… panel sequencing) or looking at all 20,000 genes (exome or genome sequencing). Because this type of testing produces a … single nucleotide polymorphism (SNP), genome-wide association studies (GWAS) and deep sequencing for somatic … FAQs for participants in the Autoinflammatory Diseases Study. …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… prenatally or after birth. Genetic testing is also used to study the genomes of tumors in cancer cases. …
Staff
Dr. Ours is an Associate Research Physician at the Center for Precision Health Research, NHGRI.
… Utah. He then joined Dr. Leslie Biesecker’s laboratory to study rare segmental overgrowth disorders. While at NIH he … miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … teratoma in an adolescent with Proteus syndrome: A novel association . Clin Case Rep . 2021;9(5):e04143. Ours CA , …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… affected individuals. His research group established the association among a variety of novel NF1 phenotypes, … the NIH principal investigator for a new natural history study on the DICER1 -related pleuropulmonary blastoma (PPB) … rhabdomyosarcoma and medulloblastoma. The purpose of the study is to better understand the phenotype and prevalent …