Search Results

91 - 100 of 1465
Jobs at NHGRI
NHGRI is seeking applications for the Director of Genetics Education (DGE) position for the Medical Genetics Training Programs, which plays a critical role in leading and overseeing all aspects of our ACGME-accredited programs.
… and consultations to enhance their understanding of genetic factors in various disease processes and empower them to confidently manage patients with potential genetic involvement.  For a PhD Beyond expert diagnosis and … services to other medical teams on the results of genetic tests. The DGE will engage with labs within NHGRI as …
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 … the changes in molecular function that underlie various genetic metabolic disorders, with the hope of developing … syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified in about 400 people …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… of families affected by Attention Deficit Hyperactivity Disorder (ADHD), National Institutes of Health (NIH) … may inherit from their parents and are linked to the disorder. … One of the most common childhood neuropsychiatric … and associated with ADHD symptoms. We can now ask how genetic variation influences these connections that are so …
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
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… to the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined … journal Prenatal Diagnosis . "Because there are too few genetic counselors, OB/GYNs will be called on to communicate fetal genetic information to parents," said Benjamin Berkman, J.D., …
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, …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases. ​
… Finding accurate and reliable information on genetic and rare diseases among the millions of online … articles that interest you. Internet Credibility Help from Genetic Alliance The Access To Credible Genetics (ATCG) … their site or obtain a printed report for a specific disorder by ordering it through NORD's Web site, by calling, …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… History Study of Patients with GNE Myopathy collects genetic and medical information from people with GNE … trials. … GNE Myopathy is a rare ( autosomal recessive ) genetic disorder that causes progressive skeletal muscle atrophy and …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… his mother Rebecca, has attention-deficit/hyperactivity disorder (ADHD). Rebecca's life must be highly organized for … to help these kids." The NIH defines ADHD as "a brain disorder marked by an ongoing pattern of inattention and/or … the heritability of attention-deficit hyperactivity disorder or ADHD. ​ … Attention deficit hyperactivity …
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 … PiMZ' or 'type PiMS'), that person is a carrier of the disorder. While such a person may not have normal levels of … - National Library of Medicine Alpha-1 Association Genetic Counseling Service Alpha-1 Advocacy Alliance Alpha …