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Information about genetics and genomics, rare diseases, patient care and more
Feature
New England Journal of Medicine Series in Genomic Medicine

Genomics, Intellectual Disability, and Autism

A child's face in a puzzle piece. Courtesy of NICHDThe 14th and final article in the series examining the past 10 years of accomplishments in screening, preventing and treating disease — Genomics, Intellectual Disability and Autsim — by Heather C. Mefford, M.D., Ph.D., Mark L. Batshaw, M.D., and Eric P. Hoffman, Ph.D. — reviews the techniques of array comparative genomic hybridization (CGH), single-nucleotide-polymorphism (SNP) genotyping arrays, and massively parallel sequencing, and how they have enabled the rapid discovery of chromosomal and single-gene causes of intellectual disability and autism.
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Read the full series of articles
Pharmacists focus on education in genomics at meeting with NHGRI
Group photo of pharmacist participantsThe field of pharmacogenomics has exploded in recent years. Genomic discoveries relevant to commonly prescribed medications, coupled with the rise in direct-to-consumer marketing of pharmacogenetic testing, has emphasized the need for pharmacist education. NHGRI recently hosted a meeting for several major U.S. pharmacy organizations to discuss the current landscape of pharmacist education in genomics Read more

Highlights

The Genomics in Medicine Lecture Series

Illustration for the Genomic in Medicine Lecture SeriesThe Genomics in Medicine Lecture Series, sponsored by NHGRI, in collaboration with Suburban Hospital and Johns Hopkins, covers everything from breast cancer diagnosis and treatment to therapeutics for genetic conditions to the genomics of cardiovascular disease. The seven lectures are recorded and can be found on GenomeTV, NHGRI's YouTube channel, at www.youtube.com/user/GenomeTV

NHGRI supports proposed incentives for electronic recording of family health histories

Medical professional in front of a computer monitorFamily health history is still one of the most powerful tools for promoting health. Family health history information is also critical for the appropriate interpretation of genetic and genomic test results. The Centers of Medicare and Medicaid Services (CMS) have taken a major step towards ensuring that electronic health records will be able to collect and use family history information. (more)
My Family Health Portrait
My Family Health Portrait is the Web-based tool from NHGRI and the U.S. Surgeon General's Family History Initiative that helps you create your own family health history.

Articles on Genetics and Genomics for Clinicians
Short articles on genetics and genomics for health care professionals.


Last Updated: May 11, 2012