My Family Health Portrait (MFHP) has a new home
Starting September 6, 2018, My Family Health Portrait (MFHP) is moving to the Centers for Disease Control and Prevention's Public Health Genomics Knowledge Base (PHGKB) website. For more than a decade, the tool has been hosted by NHGRI, allowing users to create a family health history to identify inheritance patterns across family members and manage personal disease risk. The My Family Health Portrait tool was developed by NHGRI, the CDC, and other partners. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 31, 2018 Category: Genetics & Stem Cells Source Type: news
Researchers develop mouse model for study of human immunodeficiency disease
NHGRI and NIAID researchers developed a new mouse model of a human immunodeficiency disease caused by mutations to the gene PI3-kinase delta. Treating these mutant mice with broad antibiotics prevented both the hyper-reactivity of their lymphocytes (white blood cells that are part of the immune system) and the generation of a wide range of autoantibodies. The findings, published inNature Immunology, have broad implications for a people with immunodeficiencies and autoimmune conditions. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 21, 2018 Category: Genetics & Stem Cells Source Type: news
New NHGRI grant program to support innovative genomic scientists
In the August issue ofThe Genomics Landscape, NHGRI Director Eric Green announces the recent launch of a new program - the NHGRI Genomic Innovator Award - that aims to assist "team science" researchers in establishing their independent careers. Also up: the 15th anniversary of The Genetics Home Reference, a National Library of Medicine (NLM) consumer health resource, and a big move for NHGRI's extramural research program. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 9, 2018 Category: Genetics & Stem Cells Source Type: news
NHGRI's Stacy Desine first postbac to win 2018 TmT competition
Every year, graduate students and postdocs at the National Human Genome Research Institute (NHGRI) and other institutes at the National Institutes of Health compete in a high-energy science communications contest called the Three-Minute Talk (TmT). For the first time in competition history, all the participating institutes agreed to allow postbacs to compete in the TmT finals. NHGRI's Stacy Desine earned first place after the finals on June 29, 2018, becoming the first postbac to win the TmT competition. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 17, 2018 Category: Genetics & Stem Cells Source Type: news
NHGRI's Stacy Desine first post bac to win 2018 TmT competition
Every year, graduate students and postdocs at the National Human Genome Research Institute (NHGRI) and other institutes at the National Institutes of Health compete in a high-energy science communications contest called the Three-Minute Talk (TmT). For the first time in competition history, all the participating institutes agreed to allow postbacs to compete in the TmT finals. NHGRI's Stacy Desine earned first place after the finals on June 29, 2018, becoming the first postbac to win the TmT competition. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 17, 2018 Category: Genetics & Stem Cells Source Type: news
The NIH Undiagnosed Disease Program Celebrates its 10th Anniversary!
In the July issue ofThe Genomics Landscape, NHGRI Director Dr. Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program. Other topics include the release of NIH's new strategic plan for data science, Dr. Green's keynote talk at the eighth annual Nuka System of Care Conference, and the National Academies of Sciences, Engineering, and Medicine (NASEM) Roundtable on Genomics and Precision Health Twitter chat on understanding disparities in access to genetic and genomic services. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 5, 2018 Category: Genetics & Stem Cells Source Type: news
NIH researchers identify genes associated with super-athletic sport hunting dogs
In the world of canine genomics, sport hunting dogs are super athletes and terriers are plucky supermodels. NHGRI researchers reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with roles in endurance, heart function, blood flow and pain perception. What terriers lacked in sporty genes, they made up for in genes associated with physical attributes such as their trademark facial hair. The findings were published online in the July 3, 2018,Proceedings of the National Academy of Sciences (PNAS). (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 5, 2018 Category: Genetics & Stem Cells Source Type: news
NHGRI contributes to study that implicates 63 new gene variants in prostate cancer risk
Elaine A. Ostrander, Ph.D., a researcher with the National Human Genome Research Institute, contributed to a new study that has implicated 63 additional genetic variants in prostate cancer risk. Dr. Ostrander and her colleagues based their findings, published inNature Genetics, on DNA samples from more than 140,000 men. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - June 12, 2018 Category: Genetics & Stem Cells Source Type: news
The Cancer Genome Atlas: Charting the Course for Cancer Research
In the June issue ofThe Genomics Landscape, NHGRI Director Dr. Eric Green highlights the success of The Cancer Genome Atlas, as the program draws to an end. Other topics include the launch of theAll of Us Research Program, the retirement of National Institute on Deafness and Other Communication Disorders Director Dr. James Battey to NHGRI Scientific Director Dr. Dan Kastner's selection as a finalist for the 2018 Samuel J. Heyman Service to America Medals. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - June 7, 2018 Category: Genetics & Stem Cells Source Type: news
New video reflects on successes of The Cancer Genome Atlas
After more than 10 years, The Cancer Genome Atlas (TCGA) has come to a close. A multi-institution collaboration initiated and supported by NHGRI and the National Cancer Institute (NCI), TCGA has been hugely successful in its mission to catalog the genomic changes underlying multiple cancer types. This video celebrates TCGA's accomplishments with reflections from some of its contributors, including NIH Director Francis S. Collins, M.D. Ph.D., and NHGRI's Division of Genome Sciences Director Carolyn Hutter, Ph.D. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 31, 2018 Category: Genetics & Stem Cells Source Type: news
One patient's diagnostic odyssey ends at the NIH Clinical Center
A year ago, 14-year-old Rohith Lokesh spent most of his days barely walking and in a wheelchair. After cutting-edge treatment at the NIH Clinical Center this patient is winning dance contests back in his hometown. This patient's story highlights what the NIH Clinical Center can do that's hard to do somewhere else. From using mechanistic studies and genome sequencing to inform your patient care - that's unique to NIH. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 30, 2018 Category: Genetics & Stem Cells Source Type: news
Criminal genealogy searching is a valuable tool but raises important ethical concerns
NIH researchers addressed the ethics of using genealogy data to solve crimes in a timely commentary relevant to the recent arrest of the suspected Golden State Killer. In the May 29 issue of theAnnals of Internal Medicine, Ben Berkman, J.D., and his colleague highlight the need: to alert users that their data may be used in criminal investigations (informed consent), for safeguards around potential uses of genomic data (privacy) and to limit criminal genealogy to crimes where other investigative methods have failed (justice). (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 28, 2018 Category: Genetics & Stem Cells Source Type: news
The NIH Undiagnosed Diseases Program celebrates 10 years of solving medical mysteries
The Undiagnosed Diseases Program (UDP), an initiative launched by NHGRI, the National Institutes of Health (NIH) Clinical Center and the NIH Office of Rare Disease Research, is celebrating 10 years of tackling the most challenging medical cases. The program kicked off in May 2008 with the mission of offering patients with perplexing conditions the hope of a diagnosis and the therapeutic treatments. Its unique strategy applies advanced genomic medicine technologies and multi-disciplinary medical expertise to unsolved health conditions. Happy 10th Birthday, UDP! (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 23, 2018 Category: Genetics & Stem Cells Source Type: news
83rd NHGRI Advisory Council met May 21st Live-- >
The National Advisory Council for Human Genome Research met in open session on Monday, May 21st. Dr. Green presented his Director's Report, a summary of the various activities across the Institute and the field of genomics. National Institute of General Medical Sciences (NIGMS) director Jon R. Lorsch, Ph.D., presented NIH's Strategic Plan for Data Science. NHGRI staff reported on updates to the Genome Sequencing Program and the Undiagnosed Diseases Program.Video will be available shortly. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 18, 2018 Category: Genetics & Stem Cells Source Type: news
83rd Advisory Council to Meet May 21st Live
The National Advisory Council for Human Genome Research will meet in open session on Monday, May 21st. Dr. Green will present his Director's Report, a summary of the various activities across the Institute and the field of genomics. National Institute of General Medical Sciences (NIGMS) director Jon R. Lorsch, Ph.D., will present NIH's Strategic Plan for Data Science. NHGRI staff will report on updates to the Genome Sequencing Program and the Undiagnosed Diseases Program.Live webcast will resume at 1:15 p.m. Eastern. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 18, 2018 Category: Genetics & Stem Cells Source Type: news
