Search Results
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… Genetic Imprinting … Genetic Imprinting, DNA Sequence, Genes, Family Health …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… This rotation will introduce the fellow to the state NBS testing and techniques, as well as many nutritional … Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to … reproductive technologies and pre-implantation genetic testing. The training program is open to those who have …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… received abnormal or non-reportable non-invasive prenatal testing (NIPT) results. had a follow-up test (an ultrasound … Amy Turriff, M.S. Genetic Counselor Email: turriffa@mail.nih.gov Phone: (301) …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… How to solve this dilemma? Evaluating all potential genetic features of inherited diseases by sequencing the genetic code is a powerful solution to confront the … patient's information upfront in an effort to decide which genetic test or panel to order. "Having a patient's genome …
Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
… Meeting a JHU/NIH Genetic Counseling Training Program graduate will help you … Coursework for the Genetic Counseling Training Program (GCTP) is offered on the … This week's topic is about how to measure the outcomes of genetic counseling and how to use these measures to evaluate …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Facial recognition software helps diagnose rare genetic disease …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… the chromosomes was detected, and that they should see a genetic counselor immediately. The couple found it hard to … meant for their future baby. But when they met with the genetic counselor, she said the genetic abnormality wasn’t likely to be from the fetus but …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, … Researchers study enhanced genetic animal model of Down syndrome …