Highlights Archive

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Highlights Archive

Showing all entries (from most to least recent)

Genome Unlocking Life's Code

Register Now: Genomics and Global Health:
What does the future hold?

A closing symposium for the Smithsonian exhibition Genome: Unlocking Life's Code, will be held on September 30th, beginning at 1 p.m. Created in partnership with NHGRI, the National Museum of Natural History, and the Foundation for the National Institutes of Health, the exhibition, and the closing symposium, Genomics and Global Health: What does the future hold?, focus on how genomics can prevent, diagnose, treat and cure diseases for individuals, their families and global populations. The event is free but registration is required. Read more

Posted: September 15, 2014  

Social network illustrated with six people connected via helix

NHGRI study uses social media to recruit

Researchers from NHGRI's Social and Behavioral Research Branch are using the power of social media and mobile phones to study what people around the world think about the intersections between genomics, genetics and society. Called the Social Genomics Project, it is comprised of seven surveys that ask questions about health risks, the flow of health information among family and friends, the use of genomic information to make important life and health decisions, as well as ancestry and race. Read more

Posted: September 15, 2014  

Microbial biofilm of mixed species from human body. From A. Earl (Broad Institute/MIT, 2012)

Researchers look more closely at the HMP's role in health and disease

As the Human Microbiome Project (HMP) comes into clearer focus, three NIH-funded research teams are gathering data at the most basic molecular levels about the biological processes that make up the host-microbiome system. The data, published in the September 10 issue of Cell Host & Microbe, highlight studies on pregnancy and preterm birth, inflammatory bowel disease and diabetes. Read more

Posted: September 10, 2014  

NIH Clinical Center

CCGO awards exome sequencing data to NIH intramural investigators

Ten intramural investigators will receive exome sequencing data for their research projects at the NIH Clnical Center as part of the Clinical Center Genomics Opportunity (CCGO). The CCGO, sponsored in part by NHGRI, is a two-year initiative encouraging NIH institutes to jumpstart genomic medicine by increasing the use of genomic data in clinical research. Read more

Posted: September 10, 2014  

Letters of A, T, C, G

NHGRI workshop offers potential paths to discovery and the clinic

On July 28-29, the National Human Genome Research Institute (NHGRI) held a workshop on the future of its flagship Genome Sequencing Program (GSP) - Future Opportunities for Genome Sequencing and Beyond: A Planning Workshop for the National Human Genome Research Institute. Workshop organizer and GSP program director, Adam Felsenfeld, Ph.D., acknowledged the many challenges ahead for NHGRI and the field of genomics - especially in the areas of clinical genomics and genetic variation associated with common diseases. Read more

Posted: September 08, 2014  

Council group photo

Advisory council to meet in open session

The seventy-second National Advisory Council for Human Genome Research will meet in open session Monday, September 8, 2014, at Fishers Lane Terrace-Level Conference Center. The Genome Sequencing Program, ELSI Research Program and ENCODE Project will be discussed. Read the agenda
Follow on Twitter at #NHGRICouncil

Posted: September 04, 2014  

The Genomics Landscape: A Message from the Director
Eric Green

The Natural Evolution of Genomic Data Sharing

Rapid and broad data sharing has been a hallmark of genomics since the early days of the Human Genome Project (HGP). Today, it is well-appreciated in genomics that the work of individual investigators and large collaborative efforts alike benefits from access to data resources. The new NIH Genomic Data Sharing Policy - released on August 27 - promotes sharing a broader array of large-scale human and non-human genomic data generated for appropriate research purposes when those data are generated through NIH-supported or NIH-conducted research. Read more

Posted: September 03, 2014  

Katherine Blizinsky and Elizabeth Tuck

NHGRI welcomes new education and policy fellows

Elizabeth Tuck, M.A., and Katherine Blizinsky, Ph.D., will begin their fellowships - sponsored by NHGRI and the American Society of Human Genetics - in September 2014. Ms. Tuck starts her fellowship in the new Genetics and Education Fellowship program, while Dr. Blizinsky starts hers in the Genetics and Public Policy Fellowship program. Read more

Posted: September 02, 2014  

Genome Advance of the Month
Mitochondrial DNA

Researchers examine disease-causing mutations in mitochondrial genomes

The study of genetic disease has often centered on the human nuclear genome. In contrast, the other genome that resides within us, the mitochondrial genome, has received less attention. July's Genome Advance of the Month features a study in the July 22 issue of Proceedings of the National Academy of Sciences, which examined disease-causing mutations in the mitochondrial genomes of otherwise healthy people. Read more

Posted: August 29, 2014  

Globe with genomic data circling around

NIH issues finalized policy on genomic data sharing

The National Institutes of Health has issued a final NIH Genomic Data Sharing (GDS) policy. GDS will promote data sharing as a way to speed the translation of data into knowledge, products and procedures that improve health while protecting the privacy of research participants.
Read the NIH Genomic Data Sharing Policy
Read the News Release

Posted: August 27, 2014  

Video now available
Elaine Mardis

Dr. Elaine Mardis on next-generation sequencing technologies

Recently, Elaine Mardis, Ph.D., Director of Technology Development for The Genome Institute at Washington University in St. Louis, presented Next-Generation Sequencing Technologies, the 14th and final lecture for the 2014 Current Topics in Genome Analysis (CTGA) series. Dr. Mardis is a preeminent leader in the field of next-generation sequencing. YouTube video View the video
Read about the 2014 CTGA series

Posted: August 18, 2014  

Video now available
Julie Segre

The Genomics of Microbes and Microbiomes

In June, Julie Segre, Ph.D., Chief, Translational and Functional Genomics Branch, presented the Current Topics in Genome Analysis lecture: Genomics of Microbes and Microbiomes. Watch the lecture here:
YouTube video View the video
Read about the full series

Posted: August 11, 2014  

The Genomics Landscape: A Message from the Director

Undiagnosed Diseases Network: Solving Medical Mysteries

The Undiagnosed Diseases Program (UDP), launched in 2008 as a partnership among NHGRI, the NIH Clinical Center and the Office of Rare Diseases Research, seeks to provide answers to patients with mysterious conditions that have eluded diagnosis. This multidisciplinary clinical and research team has diagnosed ~100 patients, discovered two previously unknown diseases and identified 50 genes not previously associated with any other human disease. Read more

Posted: August 05, 2014  

Genome Advance of the Month
Blood vein with DNA helices

Improving the detection of heart transplant rejection with DNA sequencing

With the hope of reducing the risks associated with heart transplants, scientists have been working diligently to develop a new, less invasive method to test for rejection. June's Genome Advance of the Month features research published in the June 18 issue of Science Translational Medicine that demonstrates how sequencing and quantification of cfdDNA can determine whether or not a heart transplant will be rejected. Read more

Posted: August 01, 2014  

FDA logo

FDA proposes oversight of laboratory-developed tests

The U.S. Food and Drug Administration (FDA) has announced steps to ensure that certain tests used by health care professionals to diagnose and treat patients provide accurate, consistent and reliable results. These steps come at a critical time for genomic, or precision, medicine. As more and more genetic tests are developed and marketed, the public must be confident in the accuracy and clinical validity of these tests.
Read the FDA release
Read a statement from NIH Director Francis Collins

Posted: July 31, 2014  

DNA double helix

Native peoples groups and NHGRI convene symposium on genomic research

On June 23, the National Congress of American Indians (NCAI), the National Human Genome Research Institute (NHGRI) and the National Museum of the American Indian (NMAI) convened a one-day symposium to explore perspectives surrounding Native peoples and genomic research. A Spectrum of Perspectives: Native Peoples and Genetic Research was held in association with the Smithsonian's Genome: Unlocking Life's Code. Read more

Posted: July 30, 2014  

Letters of A, T, C, G

NHGRI holds workshop on the future of the genome sequencing program

On July 28-29, genome researchers, clinicians, computational biologists and others met to consider the possible size, scope and future opportunities for the National Human Genome Research Institute's (NHGRI) Genome Sequencing Program (GSP). Future Opportunities for Genome Sequencing and Beyond: A Planning Workshop for the National Human Genome Research Institute was webcast live on July 28 and 29.
View the video presentations
Read about the workshop
Follow on Twitter at #GSPfuture

Posted: July 21, 2014  

Microbial biofilm of mixed species from human body. From A. Earl (Broad Institute/MIT, 2012)

Report for Human Microbiome Science: Vision for the Future is now available

Nearly 250 experts were convened last July for the Human Microbiome Science: Vision for the Future conference in Bethesda, Md., where scientists discussed current advances, challenges and opportunities for human microbiome research at the National Institutes of Health. A report of the meeting is now available in the journal Microbiome.
Read the summary
2013 meeting agenda, videos and slides

Posted: July 16, 2014  

Video now available
Kathleen Merikangas

Recent Advances in the Epidemiology and Genetics of Bipolar Disorder

On June 20, Kathleen Merikangas, Ph.D., chief of the Genetic Epidemiology Branch at the National Institute of Mental Health (NIMH), presented Recent Advances in the Epidemiology and Genetics of Bipolar Disorder. This final lecture in the Genomics in Medicine lecture series summarized the environmental and genetic risk factors for mood disorders, and presented advances in applying the tools of molecular genetics to bipolar disorder. Watch the lecture here: YouTube video View the video

Posted: July 14, 2014  

The Genomics Landscape: A Message from the Director
Eric Green

Mark Guyer, NHGRI founding member and Deputy Director, hangs up his federal hat

A big change has occurred at NHGRI this summer. Founding staff member, Dr. Mark Guyer, formally retired from federal service on June 30. For most of his time at NHGRI, Mark was a key leader of the Extramural Research Program and most recently, NHGRI Deputy Director. I'd like to take this opportunity to share some thoughts about Mark from the people he has worked with over the course of his impressive career. Read more

Posted: July 08, 2014  

Mark Guyer

NHGRI's Mark Guyer retires, played leading role in the Human Genome Project

After more than two and a half decades at NIH, Mark Guyer, Ph.D., former NHGRI Deputy Director, is retiring from federal service and looking back on a career that saw him play a critical role in the HGP and countless other genomics programs at what later became the National Center for Human Genome Research (NCHGR) and, ultimately, the National Human Genome Research Institute (NHGRI). Read more

Posted: July 03, 2014  

Henrietta Lacks

We Speak Your Name:
Brooklyn community celebrates Henrietta Lacks

The world owes much to Henrietta Lacks, the African-American woman whose cells were removed during a biopsy in 1951 and used for research without her knowledge or approval. Mrs. Lacks died at the age of 31, a few months after her diagnosis of cervical cancer. She would never know that more than six decades later, her cells would continue to grow and provide a foundation for advancements in biomedical research. Read more

Posted: July 02, 2014  

Undiagnosed Diseases Network

NIH names new clinical sites in Undiagnosed Diseases Network

Bethesda, Md., Tues., July 1, 2014 - The National Institutes of Health has awarded grants to six medical centers around the country to select from the most difficult-to-solve medical cases and together develop effective approaches to diagnose them. Read more

Posted: July 01, 2014  

Genome Advance of the Month
Ancient and modern man

Researchers probe inner workings of ancient human genomes, compare them to humans

Recent advances in the study of ancient genomes now allow scientists to study parts of the epigenetic code in our ancient forbears and compare it to patterns in present-day humans. May's Genome Advance of the Month describes a study in Science that reconstructed parts of the epigenetic code in both Neanderthals and Denisovans. They discovered changes that may have led to our modern forms, adding another page to the story of human evolution. Read more

Posted: June 30, 2014  

Video now available
Paul Meltzer

Current Topics: Large-Scale Expression Analysis

In May, Paul Meltzer, M.D., Ph.D., Chief of the Cancer Genetics Branch at the Center for Cancer Research, NCI, presented the Current Topics in Genome Analysis lecture: Large-Scale Expression Analysis. You can see that lecture now at:
YouTube video Watch the lecture
Read about the series

Posted: June 23, 2014  

Macrophages

NIH researchers use a new cell model of a rare disease to develop therapeutic compounds

NIH researchers, reporting in the June 11, 2014, issue of Science Translational Medicine, say they've cleared a major obstacle to testing potential drug therapies for a genetic condition called Gaucher disease. After creating a successful cell model, they've now tested a drug compound that has successfully corrected Gaucher's malfunctioning cells.
Read more

Posted: June 18, 2014  

Kathleen Merikangas

Recent Advances in the Epidemiology and Genetics of Bipolar Disorder

On June 20, Kathleen Merikangas, Ph.D., chief of the Genetic Epidemiology Branch at the National Institute of Mental Health (NIMH), will present Recent Advances in the Epidemiology and Genetics of Bipolar Disorder. This final lecture in the Genomics in Medicine lecture series will summarize the environmental and genetic risk factors for mood disorders, and present advances in applying the tools of molecular genetics to bipolar disorder. Read more

Posted: June 17, 2014   |  Comments (0)

Human mannequin with letters of A T C G

What exactly is the human genome?

A decade ago, scientists announced they had completed the Human Genome Project. But what exactly is a genome and how is it important to your health? NIH Director Francis Collins, M.D., Ph.D. and NHGRI Director Eric Green, M.D., Ph.D., explore the science of genomics at this Smithsonian Q?rius presentation, a part of the exhibition Genome: Unlocking Life's Code.
YouTube video Watch the video
Find out more about the exhibition and events

Posted: June 15, 2014  

Videos now available
The Cancer Genome Atlas

The Cancer Genome Atlas 3rd Annual Scientific Symposium

On May 12-13, 2014, The Cancer Genome Atlas (TCGA) held its third annual scientific symposium at Natcher Conference Center, Bethesda, Md. TCGA investigators worldwide shared novel biological discoveries, analytical methods and translational approaches using TCGA data. View agenda and videos

Posted: June 09, 2014  

People in the street and letters of A, T, C and G

Reflecting on more than two decades of the ELSI "experiment"

The Ethical, Legal and Social Implications Program, established in 1990 at NHGRI as an "experiment", is now the largest bioethics extramural research program at NIH, and funds more studies in ethical, legal and social issues related to genomics and genetics than any other program nationwide. Writing in the Annual Review of Genomics and Human Genetics, program leaders reflect on two decades of ELSI. Read more

Posted: June 06, 2014  

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