Highlights Archive

National Human Genome Research Institute

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Highlights Archive

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Research Directions in Genetically-Mediated Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

On March 3-4, 2014, NHGRI will sponsor Research Directions in Genetically-Mediated Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis at Building 31 on the NIH Main Campus. The workshop aims to review current knowledge of the surveillance, pathogenesis and treatment of Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN); examine the role of genomics and pharmacogenomics in the etiology, treatment and eradication of the preventable causes of drug-induced SJS/TEN; and identify priorities for future research. Read the agenda

Posted: March 02, 2015  

Genome Advance of the Month
CRISPR-Cas9 editing of the genome

CRISPR-Cas9 probes the inner workings of the genome in real time

January's Genome Advance of the Month describes two studies, published in Nature and Nature Biotechnology, which examine the ways researchers are using CRISPR-Cas9, a new tool that studies the genome by changing specific genes or groups of genes. Read more

Posted: February 27, 2015  

Rare Disease Day February 28 2015

February 28th is Rare Disease Day

On Friday, Feb. 27, the National Institutes of Health (NIH) will celebrate the 8th annual Rare Disease Day with a day-long celebration and recognition of various rare disease research activities. The event begins at 8:30 a.m. at Masur Auditorium (Clinical Center Building 10). Attendance is free and open to the public.
For more about Rare Disease Day at NIH, go to NIH Rare Disease Day
For more about Rare Disease Day 2015, go to Rare Disease Day

Posted: February 25, 2015   |  Comments (0)

Dr. Melissa Harris and Dr. Steve Parker

NHGRI assists new investigators with Pathway to Independence

The National Institutes of Health supports the rising careers of talented investigators through the Pathway to Independence (PI) award, also called the K99/R00 grant. In 2014, the National Human Genome Research Institute (NHGRI) hosted two PI awardees and supported 18 additional investigators at institutions nationwide. Read more

Posted: February 23, 2015  

A health professional looking at a monitor with genomic data and a patient

Papers from eMERGE highlight large-scale genomics research

Nearly 20 papers published online in 2014 highlight research on the use of DNA biorepositories and electronic medical records (EMRs) to understand the underlying genomics of disease. The papers appeared in Frontiers in Genetics and were co-authored by members of the Electronic Medical Records and Genomics (eMERGE) Network, which is supported by NHGRI. Read more

Posted: February 23, 2015   |  Comments (0)

Scale

Genome regions linked to BMI and fat distribution

Researchers have linked new regions of the human genome to body mass index (BMI) and fat distribution, according to two studies published in Nature. NHGRI researchers and PAGE Consortium scientists supported by NHGRI contributed to studies that may lead to more effective therapeutic targets.
Read more at nature.com:
New genetic loci link adipose and insulin biology to body fat distribution
Genetic studies of body mass index yield new insights for obesity biology

Posted: February 13, 2015   |  Comments (0)

Event flyer with a scales icon

Trans-NIH Workshop to Explore the Ethical, Legal and Social Implications (ELSI) of Citizen Science

On January 13-14, NHGRI's ELSI research program convened a meeting to identify the ELSI challenges raised by "Citizen Science" in the context of biomedical research, and discover ways the National Institutes of Health (NIH) can address these ELSI issues. Citizen Science is an approach to research that involves the public directly in the research process. View agenda and videos


Posted: February 11, 2015   |  Comments (0)

Council members

Advisory Council to meet in open session

The seventy-third National Advisory Council for Human Genome Research will meet in open session Monday, February 9, 2015, at Fishers Lane Conference Center. The Genome Sequencing Program, Centers of Excellence in ELSI Research, and women and minorities in NHGRI-supported research will be discussed. Read the agenda


Posted: February 09, 2015   |  Comments (0)

Read more

Informed consent resource updated

Informed consent is the basic and primary tool used by investigators to communicate with potential study participants and to ensure that research purpose, risks or other implications are understood. NHGRI's online Informed Consent Resource (ICR) has helped thousands of researchers navigate the informed consent process. Now, the ICR has been updated to keep pace with advances in genomics over the past several years. Read more

Posted: February 04, 2015  

The Genomics Landscape
NHGRI Director Eric Green, M.D., Ph.D.

President Obama's Precision Medicine Initiative

February's The Genomics Landscape is later than usual for a good reason! I was in the White House East Room with a number of other NHGRI and NIH colleagues to hear President Obama announce the Precision Medicine Initiative. I'm honored to be part of the extensive planning leading to last week's unveiling, and it will be gratifying to have NHGRI involved in making this important initiative a reality. Read more

Posted: February 04, 2015  

Genome Advance of the Month
Blood cells and genomic data

Researchers detect cancer precursors in blood DNA before disease develops

Genome Advance of the Month highlights a research team, led by Giulio Genovese, Ph.D., of the Broad Institute at MIT and Harvard in Boston, focusing on the precursors for blood cancers like leukemia, lymphoma and myeloma. In 2014, blood cancer accounted for approximately 9.4 percent of the estimated 1,665,540 new cancer cases diagnosed across the country.
Read more

Posted: February 03, 2015  

Computer-generated human body with lungs highlighted

White House announces Precision Medicine Initiative

President Obama just unveiled the Precision Medicine Initiative, an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person. The National Institutes of Health will help generate the scientific evidence needed to move the concept of precision medicine into every day clinical practice. Read more

Posted: January 30, 2015  

Stephen J. Chanock

The 2015 Jeffrey Trent Lecture: The Complexity of Genetic Susceptibility to Cancer

The National Human Genome Research Institute's Division of Intramural Research will present the 11th Jeffrey M. Trent Lecture in Cancer Research at 1 p.m. on Wednesday, February 11, 2015, at the Masur Auditorium, Building 10 (Clinical Center), on the National Institutes of Health (NIH) Bethesda campus. Stephen J. Chanock, M.D., director of the National Cancer Institute's Division of Cancer Epidemiology and Genetics, part of NIH, will deliver the lecture on the genetic susceptibility to cancer. Read more

Posted: January 26, 2015  

Genome Unlocking Life's Code

Genome exhibition travels to The Tech Museum of Innovation in San Jose, California

Following a four-month engagement at the Reuben H. Fleet Science Center in San Diego, the high-impact, interactive exhibition, Genome: Unlocking Life's Code, is making its second stop in California. The exhibition will open at The Tech Museum of Innovation, in San Jose, on Jan. 22, 2015, where the public will be able to visit it through April 27, 2015. Read more

Posted: January 16, 2015  

Carla Easter

Carla Easter to lead NHGRI Education and Community Involvement Branch

Carla Easter, Ph.D., a biologist and science educator, has been named chief of the National Human Genome Research Institute (NHGRI) Education and Community Involvement Branch (ECIB). The branch is a part of NHGRI's Division of Policy, Communication and Education (DPCE). She will lead the division's program of genomics education and outreach activities that engage a variety of communities, from pre-college students, to teachers to members of the general public. Read more

Posted: January 14, 2015  

Event information

Trans-NIH Workshop to Explore the Ethical, Legal and Social Implications (ELSI) of Citizen Science

On January 13-14, NHGRI's ELSI research program convened a meeting to identify the ELSI challenges raised by "Citizen Science" in the context of biomedical research, and discover ways the National Institutes of Health (NIH) can address these ELSI issues.
Read the Agenda
Read more about ELSI


Posted: January 09, 2015   |  Comments (0)

The Genomics Landscape

The Next Phase: NHGRI's Genome Sequencing Program

Large-scale genome sequencing has been a central component of NHGRI's Extramural Research Program since the NHGRI's inception, starting with the Human Genome Project. In this month's The Genomics Landscape, I describe the next phase of NHGRI's Genome Sequencing Program and highlight additional items that I hope will be of interest to you.
Read more

Posted: January 06, 2015  

Scientists looking at dog bones and thinking about dogs

NHGRI/Smithsonian collaboration to sequence North America's oldest dog relics

When Smithsonian archeologist Dr. Daniel Stanford attended a talk on canine (dog) genomics by NHGRI's Dr. Elaine Ostrander, he realized the potential of his collection of ancient dog bones to canine genome research. With new sequencing tools and techniques now available - and the complete sequence of the dog genome - both hope to unlock the secrets of this ancient dog DNA, perhaps the oldest in North America. Read more

Posted: January 05, 2015  

Kareena with her mom

California girl's NIH visit includes happy excursions around the nation's capital

In mid-December, Kareena Hijjawi and her mother flew to the National Institutes of Health for a series of important clinical consultations with the NIH Undiagnosed Diseases Program (UDP). But before the week was out, Kareena would be flocked by a group of dancing ballerinas, dazzled by the opulence of this year's the White House holiday tour, and even get a chance to pet the Obama family dogs, Sunny and Bo. Read more

Posted: December 22, 2014  

Genome Advance of the Month
A centenarian

Researchers examine supercentenarians' genomes for longevity key

In 2012, an American's average lifespan was nearly 79 years. By comparison, supercentenerians live to 110 years old or more - a life span far exceeding the rest of the population. A recent study led by Dr. Hinco J. Gierman at Stanford University sought genetic explanations for supercentenarians' longer life-span. Genome Advance of the Month highlights this research. Read more

Posted: December 22, 2014  

Illustration of a bear family in winter

This holiday season, resolve to learn about your family health history

Family gatherings at the holidays are the perfect time to learn more about your family's health history. A few thoughtful questions can go a long way to revealing how you can work to prevent future disease and improve your health. Read more

Posted: December 15, 2014  

The Genomics Landscape

NHGRI and Social Media

In this month's Genomics Landscape, Dr. Green describes NHGRI's use of social media to spread messages about the institute and genomics. He also highlights an event for military families at the Genome: Unlocking Life's Code exhibition in San Diego; recent publications from the Mouse ENCODE Project; and the new chief of NHGRI's Genomic Healthcare Branch.
Read more

Posted: December 02, 2014   |  Comments (0)

Robert Wildin

Robert Wildin, M.D., joins NHGRI as chief of the Genomic Healthcare Branch

On November 10, Robert Wildin, M.D., a clinical geneticist with nearly three decades of experience in private and hospital-based medical practice, joined NHGRI as chief of the Genomic Healthcare Branch (GHB). As GHB chief, Dr. Wildin will provide leadership in promoting the integration of genomic discoveries into clinical and public health practice. Read more

Posted: December 01, 2014   |  Comments (0)

Genome Advance of the Month
Circadian rhythms

Humans adapted to day-length by tuning their circadian "clocks"

New research has revealed that during migration, humans' biological clocks evolved to adapt to different environmental conditions. The October Genome Advance of the Month discusses a study by researchers in Italy who describe the genetic adaptation of the human circadian clock that was driven by day-length in various latitudes. Read more

Posted: November 29, 2014  

Thanksgiving illustration with a family of turkeys

This Thanksgiving, celebrate National Family Health History Day

Since 2004, the U.S. Surgeon General has declared Thanksgiving as National Family Health History Day. Rear Admiral Boris D. Lushniak, M.D., M.P.H., the acting U.S. Surgeon General, is upholding this proud tradition by encouraging Americans to talk about their family health histories at this year's holiday gatherings, and make a record of their inherited health conditions. Read more

Posted: November 24, 2014  

Microbiome sites

The skin microbiome: More than skin deep

Skin microbiota plays an intricate role in the human immune system, directing many immune functions and defending against invading bacterial pathogens. In a review article in the Nov. 21, 2014, issue of Science, Julie Segre, Ph.D., head of the Microbial Genomics Section at NHGRI, and Yasmine Belkaid, Ph.D., head of the Mucosal Immunology Section at NIAID, review the advantages and downsides, of this intimate partnership. Read more

Posted: November 20, 2014  

DNA helix and a mouse

Mouse genome studies find both similarities and striking differences with human genome

An international group of researchers has found powerful clues to why certain processes and systems in the mouse are so different from those in people and have developed a resource to help scientists better understand how similarities and differences between mice and humans are written in their genomes. The findings ­are reported by the mouse ENCODE Consortium online Nov. 19, 2014 in four papers in Nature and in several other publications. Read more

Posted: November 19, 2014  

Military Family Day at Fleet Science Center will feature Genome: Unlocking Life's Code

On Nov. 9, the Reuben H. Fleet Science Center in San Diego will partner with NHGRI and the San Diego Military Family Collaborative to host Military Family Day. Free admission for military families will include the Smithsonian-NHGRI exhibition, Genome: Unlocking Life's Code and the opportunity to experience many fun genome-related activities geared especially toward kids and young adults. Read more

Posted: November 05, 2014  

The Genomics Landscape

Changing the Face of Diagnostics in Clinical Microbiology

This issue of The Genomics Landscape describes the evolution of genome sequencing and its impact on public health surveillance and infectious disease diagnostics. Also highlighted: The first BD2K awards, National Family History Day, a new NHGRI executive officer and how to comment on our recent genome sequencing workshop. Read more

Posted: November 04, 2014  

Participants from the GM7 Meeting=

Genomic Clinical Decision Support - Developing Solutions for Clinical and Research Implementation

In early October, NHGRI sponsored its seventh Genomic Medicine Centers meeting - Genomic Clinical Decision Support - Developing Solutions for Clinical and Research Implementation. Blackford Middleton, M.D., M.P.H., M.Sc., Vanderbilt University, and Marc Williams, M.D., Geisinger Health System, co-chaired the meeting. Full video is now available. Read more

Posted: November 03, 2014   |  Comments (0)

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