Search Results
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… for centuries, but has only gained scientific recognition and support in the past 30 years. … in the person's sweat, urine, reproductive fluids, and breath, giving off a strong fishy odor. Some people with … suspect that female sex hormones, such as progesterone and/or estrogen, aggravate symptoms. There are several …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
… bases of DNA: adenine (A), cytosine (C), guanine (G) and thymine (T) — in various ways to spell out three-letter …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… disease or trait. A carrier has inherited a normal and a variant allele for a disease- or trait-associated gene, …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… or DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE). Factor V … the most common inherited form of thrombophilia. Between 3 and 8 percent of the Caucasian (white) U.S. and European … developing abnormal blood clots. Information courtesy of: Genetics Home Reference …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… minimal-risk options for prenatal genetic screening and diagnosis for various conditions (variations) such as … to better plan for the specific care needs of their child and to promote the wider goals of public health. Their … sequencing has significantly more complexities, risks and potential benefits than established prenatal and newborn …
Event
NHGRI hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for Applications (RFA-HG-20-048 and RFA-HG-20-049).
… may ask additional questions during the Webinar, and NIH staff will respond to those questions. Following the Webinar, a summary of questions and answers will be added to the current frequently asked … are encouraged to view the frequently asked questions and summary of questions and answers after the Webinar. …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… Genomics Research Consortium will include five centers and a data coordination site. … of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic … About NHGRI and NIH … of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Program trains students to conduct social, behavior and policy research in the field of genetic counseling and provides clinical rotations for students to learn … about genetic conditions, their impact on individuals and their families, and the role of the professional genetic …
Careers and Training
Frequently Asked Questions about the Genetic Counseling Training Program.
… pausing admissions to undergo strategic planning and development. NHGRI wants to hear from you on the current needs and challenges associated with genetic counseling while we … the program have a strong background in biology or genetics? No. Many successful applicants have backgrounds in …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Inborn errors of … "CPS1 deficiency". A list of broad categories of IEM and some examples are listed below. IEM Examples Urea cycle … pyruvate dehydrogenase deficiency What causes the IEM and how are the different forms inherited? The IEM are caused …