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Genome: Unlocking Life's Code Exhibit

In the Houston area? Visit our traveling exhibit!

Genome: Unlocking Life's Code, our museum exhibit created with the Smithsonian National Museum of Natural History, and designed for a cross-country tour, is heading south to Houston! It will visit The Health Museum from June 12-September 11, 2017. The exhibit began its journey in Washington, D.C. and was constructed to be disassembled and transported to museums and science centers across the United States. Traveling on a five-year, multi-city tour, this fascinating exhibit challenges visitors to explore the wonderful world of genome science through high-tech, hands-on learning.

Posted: June 12, 2017
Mitochondria

NHGRI study highlights role of mitochondria in immune response

A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response. Basing their research on clinical data from patients with mitochondrial disease, the researchers created a mouse model of mitochondrial disease in T-cells. The mutations resulted in an increased risk of infection and reduced protective immunity after vaccination. The study appeared June 6, 2017, in the journal Cell Metabolism.

Posted: June 07, 2017
Dr. Eric Green

A Proposed Genomic Literacy, Education, and Engagement (GLEE) Initiative

In this month's The Genomics Landscape, NHGRI Director Eric Green details a strategic visioning meeting in March to launch the GLEE Initiative - a national campaign to enhance genomic literacy while keeping pace with the advances in genomics. Also included: The Genomics and Health Disparities Lecture Series welcomes its sixth speaker, Dr. Mark Cullen, from the Stanford Center for Population Health Sciences and Dr. Cynthia Tifft receives the National Organization for Rare Disorders 2017 Rare Impact Award.

Posted: June 06, 2017
NHGRI is on Flickr

Genomics Imagery on Flickr!

Looking for genomics or health related images? NHGRI has launched a new image gallery on Flickr, featuring our favorite scientific illustrations, infographics, and photos of our staff. Our new Flickr gallery lets you use our imagery as a resource for work presentations, school projects, news reports or just simply to enjoy. Unless otherwise noted, our images on Flickr are free to use. Just credit our organization and the artist or photographer. Images will be updated weekly. Check back often - and enjoy!

Posted: May 18, 2017
Deana Around Him with her family

Community focus is central to American Indians/Alaska Natives ethics training at NIH

Since 2014, NIH has offered Institutional Review Board (IRB) training to American Indians and Alaska Natives. Dr. Deana Around Him, a citizen of the Cherokee Nation and training participant, learned how NIH ensures the welfare of people who participate in biomedical studies and helped improve the IRB training.

Posted: May 16, 2017
Laura Koehly

Dr. Laura Koehly to lead the Social and Behavioral Research Branch at NHGRI

Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch (SBRB), which conducts research that will potentially transform healthcare through the integration of genomic medicine into the clinic. Her overarching goal for the branch is to build bridges across disciplines, including fields within the social and behavioral sciences and the biological and genomic sciences. SBRB research also includes a focus on disorders that have a major public health impact.

Posted: May 16, 2017
Physicians meeting in a hospital setting

G2C2 expands genomic resources for health professionals

Healthcare professionals now have access to a variety of educational and clinical genomics resources thanks to a new partnership between the National Human Genome Research Institute, part of the National Institutes of Health, and several professional medical societies. The Genetics/Genomics Competency Center (G2C2) website has made available this free, online collection of more than 500 materials for use in the classroom and the clinic.

Posted: May 12, 2017
Big Data

The Beacon Project works toward privacy protections

The human genetics community needs protocols that enable secure sharing of genomic data from participants in genetic research. A paper published in the Journal of the American Medical Informatics Association compares three practical strategies to reduce the risk of re-identification - the process where anonymized personal genomic data can be matched with the true owner. The newest method uses advances in privacy technology based on cryptography, the mathematics of information.

Posted: May 10, 2017
Endometrial Cancer

NHGRI researchers home in on mutation profiles of clear cell endometrial cancer

NHGRI researchers and their collaborators have identified mutations in the TAF1 gene in clear cell endometrial cancer (CCEC) tumors, shedding light on the underlying genomic changes that are likely to be important in driving development of this rare but clinically aggressive form of endometrial cancer. The study was published May 9, 2017, in the journal Cancer.

Posted: May 09, 2017
Artwork for the 2017 Genomics and Society: Expanding the ELSI Universe (ELSI Congress)

The Expanding Influence of Genomics on Society

Genomics and Society: Expanding the ELSI Universe, a three-day conference funded by NHGRI on the issues that spring from the ethical, legal and social implications of genomic research, will be held on June 5 - 7, 2017 by The Jackson Laboratory for Genomic Medicine and UConn Health. Presentations and workshops on topics ranging from the implications of genetic testing in the criminal justice system to the uses and potential misuses of CRISPR will be covered.

Posted: May 05, 2017
Cancer

The Cancer Genome Atlas publishes results for bile duct, uterine and breast cancer

The Cancer Genome Atlas (TCGA), co-funded by the National Cancer Institute and NHGRI, has greatly improved our understanding of the molecular signatures underlying different cancers. Three recent publications from the TCGA network demonstrate how using TCGA's dataset can provide greater insight into preventing, diagnosing and treating specific cancer types. The papers focus on breast, bile duct and uterine cancers and characterize cancer research at a deeper molecular level.

Posted: May 04, 2017
NACHGR

80th NHGRI advisory council met May 8th

The National Advisory Council for Human Genome Research met in open session on Monday, May 8th. Dr. Green gave his Director's Report, Josh Gordon, director of the National Institute of Mental Health presented an Update from the National Institute of Mental Health and Patti Brennan, director of the National Library of Medicine, presented DataScience@NIH: Current State, Future Directions. Included were NHGRI staff reports on NHGRI's history program and the Computational Genomics and Data Science workshop. Video will be made available shortly.

Posted: May 03, 2017
Dr. Eric Green

NHGRI's Genomic Medicine Working Group - Illuminating Medicine's Future

In this month's The Genomics Landscape, NHGRI Director Eric Green discusses the progress being made through the Genomic Medicine Working Group, now holding their 10th genomic medicine meeting. These meetings review past and ongoing research efforts and decide future research priorities to facilitate genomic medicine implementation. Other items include practitioner education in genomics, the short course for health professionals and all the latest news from NHGRI research and funding.

Posted: May 02, 2017
Dr. Dayna Dreger

Smithsonian's HOT Topic features NHGRI's Dayna Dreger for National DNA Day

On Friday, April 28th, Dr. Dayna Dreger, a senior postdoctoral fellow in NHGRI's Division of Intramural Research, will lead an informal discussion about how human migration and culture are reflected by dog breed development. An event that continues our celebrations for National DNA Day, it's free and open to the public starting at 4:00 p.m. at One Species Theater, Hall of Human Origins, National Museum of Natural History.

Posted: April 27, 2017
Dr. Louisa Stark at GLEE meeting

NHGRI hosts vision meeting to advance genomic literacy

Genomic advances are rapidly leading to exciting opportunities to use genomic information in medical care and aspects of everyday life. But there is a widening gap between the pace of genomic advances and genomic literacy. To address the gap, NHGRI recently hosted a meeting of people from diverse fields to consider ways to enhance genomic literacy in three target audiences: K-16 students, the general public and healthcare providers. The goal was to discuss the possible launch of the proposed Genomic Literacy, Education, and Engagement (GLEE) initiative.

Posted: April 27, 2017
NIH Director Francis Collins, left, and astronaut Katie Rubins

DNA Day hosts Twitter Chat and Facebook Live with Collins and Rubins

Join NHGRI's National DNA Day (@DNAday) and @NIH for a National DNA Day Twitter Chat using #DNADayChat, today from 1:00 p.m.-2:00 p.m. Eastern, and watch a live-streamed discussion on Facebook Live from 3:25 to 4:00 p.m. NASA Astronaut Kathleen Rubins (@NASA_Astronauts #AstroKate), NIH Director Dr. Francis Collins (@NIHDirector), and NHGRI Director Dr. Eric Green (@Genome_gov) will participate, take questions and share their experiences in DNA research and DNA sequencing in outer space.

Posted: April 25, 2017
Students participating in DNA Day activities

Happy DNA Day! Celebrate with NHGRI resources

The National Human Genome Research Institute celebrates its 15th annual National DNA Day by organizing a nationwide network of educational events for students, teachers, health professionals and the general public. Celebrated on April 25th every year, National DNA Day aims to educate people about important scientific advances in genomics and how those advances may impact their lives. National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953.

Posted: April 25, 2017
Health professionals review online  genomics resources during the 2016 short course for nurses, physician assistants and faculty

Health professionals "Short Course" seeks applicants

The NHGRI Short Course in Genomics: Nurse, Physician Assistant and Faculty Track, will hold its annual course given by leaders in genomics education and practice from August 8-11, 2017 on the NIH campus in Bethesda, Maryland. The course is targeted to health professionals and the faculty who educate them. In addition to lectures and panel discussions, the course includes interactive sessions with course participants and presenters. Apply now! Submission deadline: May 10, 2017, 5 p.m. Eastern

Posted: April 20, 2017
Child with ADHD

Researchers begin to understand ADHD genes with help from affected families

Attention-deficit/hyperactivity disorder (ADHD) is highly heritable, but researchers don't know very much about it. Read about the experience of someone participating in a National Institutes of Health clinical trial that is focused on finding the contributing genes. After National Human Genome Research Institute researchers identify the genes, they can begin to look for new medications, new behavioral interventions or new combinations of both.

Posted: April 18, 2017
Eric Green, M.D., Ph.D.

Sustaining life science data resources: An international perspective

In April's Genomics Landscape, Dr. Green discusses NHGRI's support of the widespread sharing of genomic data and supporting the robust resources that facilitate the organization, management and access to that data. Two recent papers in Nature emphasize the importance of these resources for ready access to data. Also included: The exhibit Genome: Unlocking Life's Code moves on to Peoria's Riverfront Museum and tracing genomics history through stories.

Posted: April 04, 2017
Dr. William Gahl at Pruzansky lecture

Dr. William Gahl inspires collaboration, sharing at Pruzansky lecture

Dr. William Gahl, clinical director at the National Human Genome Research Institute (NHGRI), gave the honorary Samuel Pruzansky Memorial Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference. Although he's given dozens of lectures around the world about helping patients with undiagnosed diseases since establishing the Undiagnosed Diseases Program in 2008, this particular talk was truly inspirational. Posted: April 04, 2017

RNA Transcription

Comment now: dbGaP Data Submission and Access Process

NHGRI believes that broadly sharing research data will result in maximum public benefit, and we're committed to providing researchers with access to genomic data. The NIH Genomic Data Sharing Policy establishes a system to promote data sharing, while protecting research participants involved in genomics studies. We need your help to improve one of NIH's central data sharing tools for human genomic data: the database of Genotypes and Phenotypes, or dbGaP. Comment period closes April 7, 2017

Posted: April 03, 2017
Genome: Unlocking Life's Code Exhibit

Next up: Genome: Unlocking Life's Code plays Peoria!

Our traveling museum exhibit, Genome: Unlocking Life's Code, created in collaboration with the Smithsonian National Museum of Natural History, is making its way north to the Peoria Riverfront Museum in Peoria, Illinois. The exhibit started its journey in Washington, D.C. and was constructed to be disassembled and transported to museums and science centers across the United States. Traveling on a five-year, multicity tour, the exhibit brings the wonder of genomic science to our backyards! Come see the hands-on exhibit from April 1-May 29, 2017. Posted: March 31, 2017

Erdheim-Chester Disease

Genes associated with Erdheim-Chester disease also linked to cancer

Newly identified genes associated with Erdheim-Chester disease (ECD), an ultra-rare disease, are also linked to cancer, according to a new study by NHGRI researchers. Thus, ECD should be considered a type of cancer and treated by oncologists. A new clinical trial - enrolling ECD patients now - will test the use of the drugs dabrafenib and trametinib. Findings were published in Blood Advances.

Posted: March 30, 2017
Former education and policy fellows - Teresa Ramirez and Christa Wagner

Apply now for ASHG/NHGRI policy and education fellowships

The American Society of Human Genetics and the National Human Genome Research Institute are accepting applications for the 2017-2018 Genetics and Public Policy Fellowship and the Genetics and Education Fellowship for genetics professionals who want to pursue careers in science policy or education. The application period is open for both fellowships until April 21, 2017.

Posted: March 30, 2017
Genomics History

NHGRI oral history collection features influential genomics researchers

A collection of oral histories released today by the National Human Genome Research Institute (NHGRI) features candid conversations with pioneering scientists involved in the Human Genome Project and a rare discussion with all three institute directors. In each oral history, influential scientists offer extensive insight into science and medicine, as well as biographical details and commentary on the inner workings of NHGRI.

Posted: March 29, 2017
Angela Anderson, a 22-year-old woman who died from the fatal genetic disorder, Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN.

NIH probes the genome to understand severe drug reaction

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN, is the severest of adverse drug reactions that affects the skin. NHGRI's Division of Genomic Medicine supports research to develop approaches for the use of genome sequencing and other tools to improve diagnosis, treatment and prevention of diseases, such as SJS/TEN, that might have saved a young woman's life.

Posted: March 27, 2017
Facial recognition software to diagnose DiGeorge Syndrome

Facial recognition software helps diagnose rare genetic disease

Researchers with NHGRI and their collaborators have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. The study was published March 23, 2017, in the American Journal of Medical Genetics.

Posted: March 23, 2017
Patient with the doctor

Study identifies African-specific genomic variant associated with obesity

An international team of researchers has conducted the first study of its kind to look at the 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 findings were published March 13, 2017, in the journal Obesity.

Posted: March 13, 2017
Dr. William Gahl and Dr. Cynthia Tifft answer questions for the March 3, 2017, Reddit AMA

The UDN joins forces with Reddit for an "AMA"

On March 3, 2017, in honor of Rare Disease Day, experts from the Undiagnosed Diseases Network (UDN) turned to Reddit to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). These rare disease clinical and research experts have joined forces to solve the world's most challenging medical mysteries. Supported by the NIH Common Fund, UDN uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families affected by mysterious conditions. Here's a recap of the event.

Posted: March 08, 2017