Highlights Archive

Showing all entries (from most to least recent)

ClinGen develops new method for evaluating genomic variation and its role in disease prevention

DNA double helix, genomic and binary data A major question associated with using genomic medicine in practice is: How should doctors treat patients with disease-associated differences in their genetic code? NHGRI's Clinical Genome Resource (ClinGen), co-funded by NCI, has developed a score-based method to evaluate genomic variants that call for increased clinical focus. The guide will help clinicians decide what medical practices best prevent disease in at-risk patients. The study appears April 28th in Genetics in Medicine. Read more

Posted: April 28, 2016  

Video now available
Harry Potter and the Genetics of Wizarding. Speaker: Eric Spana

Dr. Eric Spana presents Harry Potter and the Genetics of Wizarding

For NHGRI's National DNA Day on April 25, Eric P. Spana, Ph.D. from Duke University presented Harry Potter and the Genetics of Wizarding, the inaugural event for the National DNA Day speaker series. The lecture is now available on NHGRI's YouTube channel, GenomeTV. Dr. Spana is an award-winning instructor in biology who helps students place new information in context with ideas they already find familiar, like Harry Potter, Star Wars and The Avenger. Watch the video

Posted: April 28, 2016  

A Quarter Century after the Human Genome Project's Launch presents:
Dr. Marco Marra

Image of Dr. Marco Marra The NHGRI History of Genomics Program continues its six-part seminar series featuring Human Genome Project (HGP) participants who helped launch the HGP. Next up on Thursday, April 28th: Marco Marra, O.B.C., Ph.D., director and distinguished scientist at Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency professor and head of the Department of Medical Genetics, University of British Columbia.
Read about the series | Read about Dr. Marra

Posted: April 26, 2016  

The microRNA miR-22 shows potent anti-tumor role, possible therapeutic potential in acute myeloid leukemia

Translation block, proteins, micro RNAs, deadenylation New research by NHGRI scientists and others has shown that a microRNA known as miR-22 reduces the production of cancer cells in mice with acute myeloid leukemia and leukemia. MicroRNAs are small molecules involved in regulating how much a gene is turned on or off. The findings highlighted the possibility of using miR-22-based therapy to treat patients with these cancers. The study was published April 26 in the journal Nature Communications. Read more

Posted: April 26, 2016  

Harry Potter and the Genetics of Wizarding. Speaker: Eric Spana

Harry Potter and the Genetics of Wizarding

For NHGRI's National DNA Day inaugural speaker series, Eric P. Spana, Ph.D. from Duke University presented Harry Potter and the Genetics of Wizarding. The event took place on the NIH campus in Building 35A (Porter Building), Room 640. It will be available soon on NHGRI's YouTube channel, GenomeTV. Dr. Spana is an award-winning instructor in biology who helps students place new information in context with ideas they already find familiar, like Harry Potter, Star Wars and The Avengers. Read more

Posted: April 24, 2016  

New centers to help understand biology, improve diagnoses of rare, mysterious diseases

UDN logo The National Institutes of Health recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants support studies to better understand the causes and development of rare diseases and improve diagnoses. The funding establishes two new research centers - a Model Organisms Screening Center and a Metabolomics Core - and six awards to explore how specific genes and their variations may cause disease in UDN patients. Read more

Posted: April 20, 2016  

Genomic Medicine IX: Bedside to Bench - Mind the Gaps

G M 9 Genomic Medicine Meeting 9 On April 19-20, NHGRI hosted Genomic Medicine IX: Bedside to Bench - Mind the Gaps at the Silver Spring Sheraton, Silver Spring, Maryland. Speakers focused on moving genomics research from the bedside to the laboratory, and better integrating basic science research with clinically important questions. Follow on Twitter: #GenomicMed9
View agenda

Posted: April 15, 2016  

Researchers identify genomic signature in some aggressive prostate tumors

B R C A 2 deficiency A key challenge health care providers face in treating prostate cancer is distinguishing aggressive, potentially life-threatening tumors from curable, less aggressive tumors. NHGRI researchers and their collaborators have identified a specific genomic signature of some aggressive prostate tumors, which may help pinpoint specific treatment options. Findings from the study were published April 14 online in The American Journal of Human Genetics. Read more

Posted: April 14, 2016  

ENCODE workshop to help researchers use data, resources

ENCODE logo Since 2003, NHGRI's ENCyclopedia Of DNA Elements (ENCODE) project has been building a comprehensive parts list of functional elements in the human and mouse genomes. The upcoming workshop - ENCODE 2016: Research Applications and Users Meeting - slated for June 8-10 at Stanford University, offers scientists training, tutorials, new applications and more. For information, registration:
ENCODE 2016 | Read more about ENCODE

Posted: April 13, 2016  

Brain function growth charts could spark early intervention

Images of a child, illustrations of a brain and a chart made of pencils showing brain growth and age In an editorial published April 13th in JAMA Psychiatry, NHGRI Investigator Philip Shaw, M.D., Ph.D., reviews a study that tried to develop growth charts for childhood brain function. Such "neuropsychiatric" charts, though challenging to create, could help health care providers detect when a child's brain function is beginning to go "off-track," and trigger further assessment and intervention. Read more

Posted: April 13, 2016  

Watch it live today at 3 p.m. Eastern

Genomics in Mexico: Implications for Health Care and the Bioeconomy

Gerardo Jimenez-Sanchez On April 18th, Gerardo Jimenez-Sanchez, M.D., Ph.D., will present the third lecture in the Genomics and Health Disparities Lecture Series: Genomics in Mexico: Implications for Health Care and the Bioeconomy, at Building 50 on the NIH campus and online at NIH VideoCasting. Dr. Jimenez-Sanchez is an adjunct professor at Harvard T.H. Chan School of Public Health and a founding director for the National Institute of Genomic Medicine (INMEGEN) in Mexico.
Read more | Watch it live today at 3 p.m. Eastern

Posted: April 11, 2016  

Video now available

NHGRI partners with patient to test new Proteus syndrome treatment

Image of Dr. Leslie Biesecker (left) and Jerry De Vries Clinical trial participant Jerry DeVries is testing a new treatment for Proteus syndrome, the rare genetic condition he has that causes parts of the body to grow more than they should. This genetic disorder is caused by a mutation of the AKT1 gene and is never inherited. Mr. DeVries is taking the drug in a clinical trial led by Leslie Biesecker, M.D., chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. The drug tries to dial back the level of activation of the gene that is overactive in Proteus syndrome. Watch the video

Posted: April 07, 2016   |  Comments (0)

The Genomics Landscape

Virtual Reality Technology in Social and Behavioral Research

Eric Green For this issue of The Genomics Landscape, I am delighted to feature the cutting-edge behavioral research capabilities of the Immersive Virtual Testing Area (IVETA) found within our institute's Intramural Research Program. This month's issue also highlights an educational infographic illustrating the basics of genetics and genomics, a study about DNA sequencing accuracy and a new collaboration in genomic medicine. Read more

Posted: April 05, 2016  

Study reveals promising results for treating methylmalonic acidemia

MMA Metabolic Analysis Kit A new study of methylmalonic acidemia (MMA) from NHGRI and University of Pennsylvania researchers found that most patients had a lower than expected immune reaction (indicated by the lack of antibodies) to a virus commonly used to deliver therapeutic genes. Gene therapy with the same virus was used to successfully treat mice with MMA. This means that most patients with MMA could be candidates for gene therapy. MMA is a rare and potentially life-threatening genetic disorder in which the body cannot properly turn food into energy. Read the press release | Read the study

Posted: April 01, 2016  

New study challenges gold standard for validating DNA sequencing results

Sequence data and a DNA double helix A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, "next-generation" DNA sequencing (NGS) methods are as accurate - and perhaps more accurate - than Sanger sequencing, a time-tested technique that is typically used to confirm NGS results. The study may affect DNA sequencing of clinical samples and the diagnostic pipeline for genetic tests. Read more

Posted: March 29, 2016  

Video now available

Regulatory and Epigenetic Landscapes of Mammalian Genomes

Laura Elnitski Recently, Laura Elnitski, Ph.D., senior investigator for NHGRI's Translational and Functional Genomics Branch, presented Regulatory and Epigenetic Landscapes of Mammalian Genomes, the 5th lecture for the series Current Topics in Genome Analysis (CTGA). Dr. Elnitski conducts research in epigenetics and the role of abnormal DNA methylation - or gene expression control - in tumor samples to understand how methylation works and discover therapeutic approaches to cancer treatment.
Watch the video
Read about the 2016 CTGA series

Posted: March 28, 2016  

National DNA Day: Improving genomic literacy on a national scale

DNA Day April 25 The National Human Genome Research Institute will mark its fourteenth annual National DNA Day by organizing a nationwide network of educational events for students, teachers and health professionals. 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. Read more

Posted: March 21, 2016  

Genome Advance of the Month

Schizophrenia: Ancient scrolls, Genomic Sequencing and Synaptic Pruning

Schizophrenia February's Genome Advance of the Month describes a leap forward in understanding the heritability and progression of schizophrenia from a study by researchers at Harvard Medical School and the Broad Institute. The study, published in the February 11, 2016 issue of Nature, signals the potential for research using large numbers of whole genome sequences, innovative biological methods and advanced software toolkits for analysis. Read more

Posted: March 18, 2016  

Future Directions for Undiagnosed Diseases Research: UDN and Beyond

UDN logo On Monday, March 21, the National Institutes of Health sponsored the workshop Future Directions for Undiagnosed Diseases Research: The UDN and Beyond, convening a group to review thoughts on the Undiagnosed Diseases Network (UDN) and recommendations on its future. Researchers presented information on a patient's experience and discuss the most important clinical and scientific components of patient evaluations. Video will be available soon. View agenda

Posted: March 18, 2016  

Video now available

Genomes and Big Data: A Personal View

Ewan Birney Continuing the discussion about the launch of the Human Genome Project 25 years ago, Ewan Birney, Ph.D., associate director for the EMBL-European Bioinformatics Institute, presented Genomes and Big Data: A Personal View on February 25 at Lipsett Amphitheater in NIH's Building 10. Dr. Birney played a key role in many large-scale genomics projects, notably the sequencing of the Human Genome in 2000.
YouTube video Watch Dr. Birney's talk
Read about the HGP 25th seminar series

Posted: March 16, 2016  

Signaling in Host-Associated Microbial Communities

A variety of microbes Starting from birth, microbes, such as bacteria, fungi and viruses, form communities in and on every human. Researchers with the National Human Genome Research Institute and the University of California, San Francisco, reviewed studies on how microbes communicate with each other and with their human hosts over the course of a lifetime, including periods of both health and disease.
Read more

Posted: March 10, 2016  

Researchers propose new way to return sequence results to participants

Dr. Leslie Biesecker Sequencing the human genome and exome (the protein coding genes in the genome) are powerful tools that sometimes generate information beyond what the biomedical researchers originally sought. In a new study published in the March 3 American Journal of Human Genetics, researchers, including NHGRI's Les Biesecker, M.D., are now proposing a standard way for returning to research participants sequence results that might be critical for their health. Read the study

Posted: March 08, 2016  

Genomics and Health Disparities

Chronic Kidney Disease - A Window into Understanding Health Disparities

Neil Powe On Monday, March 7 at 3 p.m. Eastern Neil Powe, M.D., M.P.H. presented Chronic Kidney Disease - A Window into Understanding Health Disparities, the second talk in the Genomics and Health Disparities Lecture Series. Dr. Powe is chief of medicine at Priscilla Chan and Mark Zuckerberg San Francisco General Hospital and a professor for the Center for Vulnerable Populations at the University of California, San Francisco. Video of this talk will be available soon.

View lecture series program

Posted: March 04, 2016  

The Genomics Landscape

National DNA Day: Celebrating Genomics Through Awareness

Eric Green Long before we get to Election Day this year, there is another major 'Day' to prepare for - April 25, National DNA Day! The Genomics Landscape describes NHGRI's expanded programming for National DNA Day to engage students, educators and the public to raise awareness about genomics nationally. Additional highlights: genomics education for healthcare practitioners, the impact of NIH research and our ongoing seminar series commemorating the Human Genome Project's launch 25 years ago. Read more

Posted: March 01, 2016  

Advisory committee to address building a medical information commons

Letters of A T C G around the globe While generating large amounts of medical and genomic data may improve health, questions about access and use remain. To address these challenges, an NHGRI-funded project titled, Building the Medical Information Commons: Participant Engagement and Policy, will hold its first advisory committee meeting March 2-3 in Houston. Laura Lyman Rodriguez, Ph.D., director of NHGRI's Division of Policy, Communications and Education, will discuss policy issues related to building a resource to share data. Read more

Posted: March 01, 2016  

Investigating how the genome works, one cell at a time

On and off Switches In a study published in the journal Nature Biotechnology, scientists have set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell. Chromatin influences gene activity in a cell by controlling access to the genes and regulatory proteins that make the genome work. A better understanding of chromatin will yield important insights into the genome's working parts and how those parts are managed. Read more

Posted: February 22, 2016  

Neanderthal DNA has subtle but significant impact on human traits

Modern man (left) and Neanderthal man The first study comparing Neanderthal DNA from the genomes of adults with European ancestry with their medical records has revealed its effect on modern human biology. Reporting in Science, investigators with Vanderbilt University funded by NHGRI's eMERGE program found associations between Neanderthal DNA and many other diseases. Read more

Posted: February 11, 2016  

Fearfulness changes impact of genomic information in overweight women

Virtual doctor seen on a computer monitor New research suggests that fearful patients who received information about the role of genomics in being overweight viewed the information as threatening and were less likely to take steps to improve their health habits than those in a neutral or angry state. The study, by researchers from NHGRI's Social and Behavioral Research Branch, was published in an advanced online issue of the Annals of Behavioral Medicine on February 5, 2016. Read more

Posted: February 08, 2016   |  Comments (0)

NIH researchers identify genomic signature shared by five types of cancer

Read more National Institutes of Health researchers have identified a signature in tumor DNA that occurs in five different types of cancer. They've also found evidence that this methylation signature may be present in many more types of cancer. The specific signature results from a chemical modification of DNA called methylation, which can control the expression of genes like a dimmer on a light switch. The study appears in the February 5 issue of The Journal of Molecular Diagnostics. Read more

Posted: February 05, 2016  

Genome Advance of the Month

The "bunny ear" hypothesis: How defective DNA looping may contribute to cancer

Read more Your DNA forms thousands of "bunny ear" loops, like those of a shoelace. Your DNA creates "genetic neighborhoods" within each bunny ear loop. These neighborhoods bring distant genes and specific gene control switches into close proximity. The December Genome Advance of the Month highlights a landmark study in Nature that describes what happens when two genetic neighborhoods merge in brain tumor cells. Read more

Posted: January 29, 2016