Search Results
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… may be expressed, and both versions contribute to the genetic trait. The M gene is the most common allele of the … - National Library of Medicine Alpha-1 Association Genetic Counseling Service Alpha-1 Advocacy Alliance Alpha … Alpha-1 Antitrypsin, AAT, Alpha-1 Gene, Lung Disease, Genetic Disease …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… However, despite the relatively high prevalence of these genetic mutations in Ashkenazi Jews, only seven percent of … whether an individual in such a high-risk family has a genetic mutation in the BRCA1 or BRCA2 genes. When someone … individuals may develop breast cancer whether or not a genetic mutation is present. …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… backgrounds, about 1 in 200 has FMF. The availability of genetic testing has helped identify numerous cases among … in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in establishing a correct … Familial Mediterranean Fever, FMF, Inherited Disease, Genetic Disease, Inflammation, Ankle Rash, Autosomal …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… One of the most common childhood neuropsychiatric disorders, ADHD is highly heritable - meaning that genes play … and associated with ADHD symptoms. We can now ask how genetic variation influences these connections that are so … Deficit Hyperactivity Disorder, ADHD, inherited brain disorders, Phillip Shaw Ph.D., Social and Behavioral Research …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, … Ongoing efforts include research aimed at understanding genetic contributions to a number of human diseases, …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … the changes in molecular function that underlie various genetic metabolic disorders, with the hope of developing … , 69:1022-1032. 2001. [ PubMed ] Huizing M., Gahl W.A. Disorders of vesicles of lysosomal lineage: the …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … genetics have been difficult to understand. Numerous genetic and environmental factors can contribute to a person …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… on the development of new therapies for patients with genetic disorders. … conditions, including organic acidemias, mitochondrial disorders and skeletal dysplasias. All investigators direct … create mouse models to test novel small molecules to treat genetic skeletal diseases. They use contemporary genetic and …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the …