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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.
… 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 … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family … screening involves testing to see if a person “carries” a genetic variation (allele) associated with a specific disease …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … Genetic counseling refers to guidance relating to genetic disorders that a specialized healthcare professional …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves analyzing free … look for genomic variants associated with a hereditary or genetic disorder. … look for genomic variants associated with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses. …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … This list of genetic, orphan and rare diseases is provided for … A genetic disorder is a disease caused in whole or in part by a … change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… August 21, 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing … you on the current needs and challenges associated with genetic counseling while we plan to launch a new effort to … have collaborated to develop and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… blood draw is replacing a giant needle 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 …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease … 2 diabetes; however, it remains unknown exactly how these genetic changes, known as variants, are distributed among …