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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
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News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Library of Medicine’s National Center for Biotechnology Information.  “Humans and other mammals are born with a set …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… obstetrics and gynecology (OB/GYN) must wrestle with this technology's practical and ethical issues, according to a new … OB/GYNs will be called on to communicate fetal genetic information to parents," said Benjamin Berkman, J.D., M.P.H., … though not available now, will provide much more information than revealed by amniocentesis . That's part of …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… is particularly interested in how genetic/genomic risk information can be used to activate network processes to … of healthcare services and dissemination of genetic risk information. Ultimately, her research aims to develop … strategies to help families cope with disease-risk information, to increase patients' willingness to share such …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… can predict the risk for developing diseases by combining information from family members about their family health … advance physicians’ ability to use family health history information to assess which conditions with a genetic … Most studies on improving family health history information are piecemeal and specific, relying on models …
News Release
NIH issues a final Genomic Data Sharing policy to speed the translation of data into knowledge, improve health and protect patient privacy.
… Its two-tiered data distribution system has made some information and data available to the public without … accelerate research by combining and comparing large and information-rich datasets." A key tenet of the GDS policy is … expectations provided through accompanying Supplemental Information to the NIH Genomic Data Sharing Policy.  The NIH …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… after their healthcare provider gave them more detailed information. The paper, published in Genomics in Medicine , … findings that come out of genome sequencing reflect information that is separate from the primary reason for an … have the opportunity to decide whether to be provided information about genomic variants in these additional genes. …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… center keep pace with a rapidly evolving DNA sequencing technology landscape. He helped adapt and implement …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… 6, 2017, in Nature Communications . "Advances in genomics technology and the power of team science have enabled us to … and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . The … and interventions to improve the nation's health. More information: https://clinicalcenter.nih.gov . About the …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… practiced. After visiting with the patient to collect information about family history and symptoms, House and his … Genomics and Metabolic Genetics Branch. But even with the information gathered upfront, there are a huge number of … It can reduce the need to gather much of the patient's information upfront in an effort to decide which genetic test …