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2017

October

October 12, 2017: New regions of the human genome linked to skin color variation in some African populations
Bethesda, Md., Wed., October 12, 2017 - In the first study of its kind, an international team of genomics researchers have identified new regions of the genome that are associated with skin color variation in some African populations. In these regions are genes that repair DNA damage caused by UV light, are associated with albinism and contribute to the production of a novel lysosomal protein. Lysosomes are sub-cellular structures that play roles in optimizing nutrition and fighting infections and now, with these findings, in pigmentation. The study was published today, October 12, 2017, in the journal Science.

October 11, 2017: NIH completes atlas of human DNA differences that influence gene expression
Bethesda, Md., Wed., October 11, 2017 - Researchers from the Genotype-Tissue Expression (GTEx) Consortium, funded by the National Institutes of Health (NIH), have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the scientific community interested in how individual genomic variation leads to biological differences across human tissues and cell types.


September

September 19, 2017: New toolkit helps nurses use genomics in patient care
Bethesda, Md., Tues., September 19, 2017 - Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources, part of a new website launched by the National Human Genome Research Institute. Developed with input from clinical educators and administrators, The Method for Introducing a New Competency in Genomics (MINC) website provides resources for nursing leaders at all levels of genomics competency, ranging from basic knowledge about genomics to its practical impact on healthcare systems and policies.


August

August 30, 2017: Sequencing all 24 human chromosomes uncovers rare disorders
Bethesda, Md., Thur., August 30, 2017 - Non-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. Findings were published online today, August 30, in Science Translational Medicine.

August 10, 2017: NIH to host workshop on advances, future needs in human microbiome research
Bethesda, Md., Thur., August 10, 2017 - Microbes inhabit just about every part of the human body, outnumbering human cells by ten to one. The ten-year, National Institutes of Health (NIH) Common Fund Human Microbiome Project was established to understand how microbial communities impact human health. On August 16-18, 2017, NIH will host a workshop, The Human Microbiome: Emerging Themes at the Horizon of the 21st Century, to share the latest research on the human microbiome, and to evaluate what is needed to advance this field over the next decade.

August 8, 2017: NIH accelerates the use of genomics in clinical care
Bethesda, Md., Tue., August 8 2017 - The National Institutes of Health (NIH) is awarding $18.9 million towards research that aims to accelerates the use of genome sequencing in clinical care. The new awards will generate innovative approaches and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and groups, including diverse and underserved populations, and in healthcare settings that extend beyond academic medical centers.


July

July 6, 2017: NIH and collaborators identify the genomic cause for Carey-Fineman-Ziter syndrome
Bethesda, Md., Mon., July 6 2017 - An international team of researchers has identified the genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare, inherited muscle disorder. Their findings provide insight into the development of an embryo's muscles and the regeneration of muscle cells after injury. The study was published today July 6, 2017 in Nature Communications.


March

March 13, 2017: Study identifies African-specific genomic variant associated with obesity
Bethesda, Md., Mon., March 13, 2017 - An international team of researchers has conducted the first study of its kind to look at genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 percent of West Africans, African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity and provides insight into why obesity clusters in families. The were published March 13, 2017, in the journal Obesity.


February

February 2, 2017: NIH to expand critical catalog for genomics research
Bethesda, Md., Wed., February 1, 2017 - The National Institutes of Health (NIH) plans to expand its Encyclopedia of DNA Elements (ENCODE) Project, a fundamental genomics resource used by many scientists to study human health and disease. Funded NHGRI, a part of the NIH, the ENCODE Project strives to catalog all genes and regulatory elements - the parts of the genome that control whether genes are active or not - in humans and select model organisms. Four years of additional support will build on a long-standing commitment to developing freely available genomics resources for use by the scientific community.

Last Updated: November 28, 2017

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