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News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… that the 17 variants that were incorrect in the Sanger testing would have been discarded. Dr. Biesecker said the … these data show that variants identified by NGS genetic testing are accurate and reliable, but like all other medical tests, genetic testing is not perfect. He suggested clinicians use their …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… participating in genetics research or undergoing genetic testing will lead to being discriminated against based on … individuals or their family members to undergo genetic testing or to provide genetic information. As defined in the … programs. The ADA has been used to challenge genetic testing practices by an employer. In 2001, EEOC filed a suit …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… approaches to studying mental health conditions include non-invasively scanning the brain, which allows researchers …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Investigators have implanted fetal tissue in rodents and non-human primates to better understand how to restore or … generation to generation. Clinical trials of drugs: Drug testing includes classes of drugs that control symptoms, slow … decisions about testing. Prospective parents consider prenatal testing when one parent has been diagnosed with …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… are working. What are we not trying to do? We are not testing any new medication or procedure to treat or cure MMA. … resonance spectroscopy (MRS) of the brain. This is non-invasive but some patients may require sedation. To enroll in … and brain MRI, and developmental and neurological testing. A skin biopsy will be only performed if it has not …
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.
… there are many cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various … risks and potential benefits than established prenatal and newborn screening programs. Although the … A Historical Discussion on Eugenics and Genetic Testing/Screening Panelists: Rebecca Mueller (University of …
File
… NAM: Report on Evidence Framework for Genetic Testing Wendy Chung, MD PhD Committee On The Evidence Base … risk of disease, identifying carriers and establishing prenatal and clinical diagnosis or prognosis.” Includes: Prenatal, newborn and carrier screening Testing in high …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner … of puberty. Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and … during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… events in brain development have crossed from the prenatal to the postnatal period. These developmental events …
File
… Making Disability in Prenatal Genetic Testing - Meghna Mukherjee (Oct. 2022) …