Highlights Archive

Showing all entries (from most to least recent)

NHGRI convenes workshop on the future of genome sequencing program

On July 28-29, genome researchers, clinicians, computational biologists and others will meet 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 will be webcast live starting at 8:30 a.m. Eastern on July 28. Read more
Watch the webcast on GenomeTV Live
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  

Physician icon

Genomic educational resources for physicians added to G2C2 website

Since 2010, the Genetics/Genomics Competency Center (G2C2) has assembled educational materials for genetic counselors, nurses, pharmacists and physicians assistants. Now, through the efforts of the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC), the G2C2 resource has been expanded to include a new collection of resources for physicians. Read more

Posted: June 03, 2014  

The Genomics Landscape: A Message from the Director

The NHGRI Historical Archiving Initiative

Starting with the Human Genome Project, NHGRI has been tied to or has led high-profile genomics projects, producing massive volumes of documents, notes, e-mails, slides, photographs, videos and other materials. Now, NHGRI is capturing existing and future materials as a resource for historians. Read more

Posted: June 03, 2014  

Group photo

Students get crash course on careers in genomics from NHGRI researchers

On May 2, 2014, NHGRI researchers shared their career paths with 60 Brooklyn-area high school students at Medgar Evers College in Brooklyn, N.Y. Six high schools attended the day-long event Celebrating Genomics Careers for the Twenty-first Century.
Read more

Posted: June 02, 2014  

Genome Advance of the Month
X and Y Chromosomes

The Y chromosome: beyond gender determination

The Y chromosome is critical: it contains the genes necessary to override the biological default - female development - and create the male reproductive system. But research has shown that it is undergoing rapid evolutionary deterioration. April's Genome Advance of the Month explores the evolutionary path of the Y chromosome. Read more

Posted: May 29, 2014  

Video now available
Howard McLeod

Howard McLeod, PharmD, presents Pharmacogenomics: 2014

Dr. Howard McLeod, medical director at the DeBartolo Family Personalized Medicine Institute at the University of South Florida Moffitt Cancer Center, presented the latest in pharmacogenomics at the May 7th Current Topics in Genome Analysis (CTGA) lecture. View the lecture video here.
YouTube video Watch the lecture
Read about the series

Posted: May 28, 2014  

Current Topics lecture CANCELLED
Elaine Mardis

Elaine Mardis and next-generation sequencing technologies

Due to weather and airport delays, the Current Topics in Genome Analysis lecture on Wednesday, May 28th with Elaine Mardis, Ph.D., has been cancelled. Dr. Mardis, the Director of Technology Development for The Genome Institute at Washington University in St. Louis, will be rescheduled to a later date. Read more

Posted: May 27, 2014  

Video now available
Council meeting

Watch Now: May Council Open Session

Videos of the open session meeting of the seventy-first National Advisory Council for Human Genome Research, are now available. Council met May 19 and discussed the eMERGE Phase III program, the Centers for Mendelian Genomics and the Clinical Sequencing Exploratory Research Program.
YouTube video View the video presentations
Read the Agenda

Posted: May 23, 2014  

Clinical Genetic Testing in Psychiatry

On May 2, Francis J. McMahon, M.D., Chief, Human Genetics Branch & Genetic Basis of Mood & Anxiety Disorders Section, National Institute of Mental Health, NIH, presented Uses and Misuses of Clinical Genetic Testing in Psychiatry, an overview of the current state of knowledge regarding genetic testing in clinical psychiatry. Full video of his talk is now available.
YouTube video Watch the lecture video

Posted: May 21, 2014  

Council group photo

Advisory council meets in open session

The seventy-first National Advisory Council for Human Genome Research met on Monday, May 19, 2014, at Fishers Lane Terrace-Level Conference Center. The eMERGE Phase III program, the Centers for Mendelian Genomics and the Clinical Sequencing Exploratory Research Program were discussed.
Read the agenda

Posted: May 19, 2014  

Bruce Korf

Current Topics: Genomic Medicine

On Wednesday, May 21st, join Bruce Korf, M.D., for the next Current Topics in Genome Analysis lecture: Genomic Medicine. Dr. Korf is a professor in genetics at the University of Alabama at Birmingham who specializes in neurodevelopment and developmental disabilities. Attend at the Lipsett Amphitheater, NIH Clinical Center. Read more

Posted: May 19, 2014  

DIR Organizational Chart

NHGRI's Division of Intramural Research implements new structure

NHGRI Scientific Director Daniel Kastner, M.D., Ph.D., has implemented the reorganization of NHGRI's 45 intramural investigators and associated research programs into a new arrangement of nine branches. The Division of Intramural Research reorganization was announced today at the 71st meeting of the National Advisory Council for Human Genome Research.
Read more

Posted: May 19, 2014  

Current Topics: Large-Scale Expression Analysis

Paul Meltzer, M.D., Ph.D.
Join Paul Meltzer, M.D., Ph.D., Chief of the Cancer Genetics Branch at the Center for Cancer Research, NCI, on Wednesday, May 14th for the next Current Topics in Genome Analysis lecture: Large-Scale Expression Analysis. Attend at the Lipsett Amphitheater, NIH Clinical Center. Read more

Posted: May 13, 2014  

USA Science and Engineering Festival logo

Science lovers flock to the USA Science & Engineering Festival

The USA Science & Engineering Festival attracts thousands of families, school groups and science geeks to learn about science, technology, engineering and math (STEM). The third festival, held April 26-27, 2014, attracted a crowd of 325,000 at the Walter E. Washington Convention Center in Washington, D.C., 2,000 of which visited the NHGRI booth. Read more

Posted: May 12, 2014  

The Genomics Landscape: A Message from the Director

NHGRI's Research Training and Career Development:
Genome Science to Genomic Medicine

The fast-paced nature of genomics provides seemingly endless opportunities to pursue exciting research. This presents challenges when it comes to ensuring a strong pool of future researchers. Providing genomics training is thus an important component of NHGRI's mission. Read more

Posted: May 06, 2014  

Video now available
Kurt Fischbeck

Genetic testing for neurological diseases

On April 4th, Kurt Fischbeck, M.D., NIH Distinguished Investigator at NINDS, and an adjunct investigator for NHGRI, presented Genetic testing for neurological diseases at the Genomics in Medicine lecture series. Learn how genetic testing for disorders like muscular dystrophy and Huntington's disease can provide accurate diagnoses without invasive procedures.
YouTube video Watch the lecture video

Posted: May 05, 2014  

Francis J. McMahon

Clinical Genetic Testing in Psychiatry

On May 2, Francis J. McMahon, M.D., Chief, Human Genetics Branch & Genetic Basis of Mood & Anxiety Disorders Section, National Institute of Mental Health Intramural Research Program, NIH, will present Uses and Misuses of Clinical Genetic Testing in Psychiatry, an overview of the current state of knowledge regarding genetic testing in clinical psychiatry. He will also review recommendations of a recent taskforce report on the subject.
Read more

Posted: April 30, 2014