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 … that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific …
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.
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).
… describes the study of all of a person's genes (the genome). … one generation to another. Genetics involves scientific studies of genes and their effects. Genes (units of heredity) … 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.
… 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 … ] Elkahloun AG, Hafko R, Saavedra JM. An integrative genome-wide transcriptome reveals that candesartan is …
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 … 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.
… erythematosus (SLE) and other similar conditions. Later studies found a protein called the lupus anticoagulant in a … and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of recurrent thrombi is associated with APS as well. Most studies suggest that individuals who have a recurrent episode …
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 …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a …
Staff
Dr. Ours is an Associate Research Physician at the Center for Precision Health Research, NHGRI.
… Dr. Ours research interests involve natural history studies of segmental overgrowth disorders which focus on … 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.
… Dr. Stewart studies phenotypes and genetic determinants of familial … affected individuals. His research group established the association among a variety of novel NF1 phenotypes, … 1: genetic, functional and clinical evidence of a novel association. Cancer Research , 69 (18): 7393-7401. 2009. [ …