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Genome Advance of the Month

Editing the book of life with molecular scissors

Life's code is written in A's, T's, C's and G's, the letters representing the four nucleotides in DNA that direct the action of a cell. We understand a lot about our DNA code and the cause of disease. But editing this book of life, and changing 'bad DNA' to 'good DNA' to treat disease, has proven difficult. Read more

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NHGRI reports on first genomic literacy workshop

Preparing for a future using genetic and genomic information as a routine part of medical care was the focus of an NHGRI genomic literacy workshop in the fall of 2011. Now, a meeting report describing the results of that workshop is available online in Genetics in Medicine.
Read more

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Video now available: Using pharmacogenetics in clinical medicine

On March 1st, Dr. Tristan Sissung, Ph.D., discussed the use of pharmacogenetics in clinical medicine and drug development during the sixth and final lecture in the 2012-2013 Genomics in Medicine lecture series. Watch the lecture now
See the full 2012-2013 Genomics in Medicine Lecture Series

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NHGRI Director discusses ACMG recommendations for incidental findings

Doctors and others have debated what to do with the incidental findings that will inevitably be encountered when sequencing the genomes of patients. The American College of Medical Genetics and Genomics (ACMG) has just released the first practice guidelines for reporting such incidental findings. NHGRI Director Eric D. Green, M.D., Ph.D., discusses the issue. Read more
Read the ACMG report
Read the ACMG press release

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Genomic Data Privacy and Risk

George Church, Ph.D., and Isaac Kohane, M.D., Ph.D., will continue the series of lectures celebrating the 10th anniversary of the Human Genome Project (HGP) with Genomic Data Privacy and Risk. Come hear them speak on Thursday, March 21, from 11:00 a.m. to 1:00 p.m. at Lipsett Amphitheater, NIH Clinical Center. Read more

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Now Playing: GenomeTV!

The brand new GenomeTV on genome.gov organizes all of NHGRI's webcasts and videos in one, easy-to-use, searchable database. Now you can locate and view that symposium, talk, workshop, documentary or council meeting - often with accompanying Powerpoint slides - with a few quick clicks. Try it now! Read more

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Video now available: Ophthalmic Genetics and Clinical Treatment Opportunities

On Feb. 8th, Paul A. Sieving, M.D., Ph.D., National Eye Institute director at NIH, presented the fifth lecture in the Genomics in Medicine Lecture Series. Dr. Sieving discussed how gene identification has led to finding the molecular mechanisms and biological pathways of opthalmic disease and exploring targeted therapies. Read more

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Worm genome sequencing influenced Human Genome Project's data sharing principles

Robert Waterston, M.D., Ph.D., and Sir John Sulston, Ph.D., genomic researchers who sequenced the C. elegans genome in the 90s, recently described the project and their involvement in the HGP. The presentation kicked off talks organized by NHGRI to celebrate the HGP's 10th anniversary. Read more

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NHGRI pushes the boundaries of innovation

National Human Genome Research Institute staff highlighted several major institute programs at the recent 67^th meeting of the National Advisory Council for Human Genome Research, offering insights into some of the institute's progress and innovation over the last several years, and providing glimpses into the future. Read more

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Expanding the limits of modern medicine

In recognition of Rare Disease Day, read a story of one patient's medical odyssey. Dunham Aurelius became patient 37 in the NIH Undiagnosed Diseases Program. The NIH Common Fund is currently implementing an initiative to expand the work of diagnosing difficult cases like Aurelius' to a network of clinical sites around the country. Read more

Read more about Rare Disease Day

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Video now available:
Physician Education in Genomics

In January, the National Human Genome Research Institute sponsored its fourth Genomic Medicine Centers meeting - Genomic Medicine Centers Meeting IV: Physician Education in Genomics - in Dallas, Texas. Video of the meeting is now available. Read more

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Genome Advance of the Month

Fitting the National Archives in your pocket

Nick Goldman, Ph.D., and Ewan Birney, Ph.D., researchers at the European Bioinformatics Institute in Hinxton, UK, wandered off on a tangent over a couple of beers, and instead of their usual mission of decoding genomic information, they decided to try the opposite problem: encoding information in DNA. The January Genome Advance of the Month features an article that began as a somewhat facetious idea for where to store big data. Read more

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Using pharmacogenetics in clinical medicine

On March 1st,, Dr. Tristan Sissung, Ph.D., will summarize the basis of pharmacogenetics and its use in clinical medicine and drug development for the next Genomics in Medicine lecture. Dr. Sissung, is a staff scientist with the National Cancer Institute, NIH Clinical Center, and conducts research in molecular genetics and translational pharmacogenetics. Read more

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Genetics and Public Policy Fellowship application period is now open

The National Human Genome Research Institute (NHGRI) and The American Society of Human Genetics (ASHG) are happy to announce that applications are now being accepted for the 2013 ASHG/NHGRI Genetics and Public Policy Fellowship. The program is designed for genetics professionals with an advanced degree who are early in their careers and interested in the development and implementation of genetics, health and research policies at the national level. Read more

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Webinar explores neurobiology research and treatment

Ellen Sidransky, M.D., with NHGRI's Medical Genetics Branch, presented research on translational neurobiology in a webinar hosted by Science magazine. She discussed the genetics of Gaucher disease, a rare lysosomal storage disorder that often causes neurologic symptoms. Dr. Sidransky is one of three NIH presenters who participated in the free webinar held Feb. 13, 2013. See the Webinar

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Waterston and Sulston kick off HGP10 Seminar

Dr. Robert Waterston, M.D., Ph.D., and Sir John Sulston, Ph.D., kick off the first in a series of lectures celebrating the 10th anniversary of the Human Genome Project (HGP) with Conceptualization of the Human Genome Project and Development of Data Release Principles. Come hear them speak on Thursday, Feb. 14, from 9:00-11:00 a.m. at Lipsett Auditorium, NIH Clinical Center. Read more

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National Advisory Council for Human Genome Research meets in open session

Watch live on Monday, February 11, when NHGRI convenes the 67th meeting of the National Advisory Council for Human Genome Research (NACHGR). The Cancer Genome Atlas, Human Heredity and Health in Africa and an update on the Centers of Excellence in Genomic Science program are highlighted.
Read the agenda

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NHGRI researchers provide insights on the genetics of dog skull variation

Breeding has fostered remarkable craniofacial diversity in the domestic dog - from the Collie's elongated snout to the compressed face of the Pug. Study of dog skull variation conducted at NHGRI's Cancer Genetics Branch (CGB) is leading to explorations of both canine, and human skull biology and genetics. Elaine A. Ostrander, Ph.D., chief of NHGRI's Cancer Genetics Branch (CGB), and Jeffrey J. Schoenebeck, Ph.D., CGB research fellow, review the biology and genetics of canine skull formation in an article appearing the February issue of Genetics. Read more

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NHGRI celebrates 10th anniversary of the Human Genome Project

Ten years after the completion of the Human Genome Project (HGP), researchers continue to discover even more about the human genome. The National Human Genome Research Institute will mark the 10-year anniversary of the project's completion with a series of seminars, a symposium and an interactive exhibition at the Smithsonian's National Museum of Natural History. Read more

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The 8th Annual National DNA Day Essay Contest is now open

The American Society of Human Genetics (ASHG), invites you to participate in the 8th Annual DNA Day Essay Contest! The contest is open to students in grades 9-12. The contest aims to challenge students to examine, question, and reflect on the important concepts of genetics. Read more
Find out more on National DNA Day

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Ophthalmic Genetics and Clinical Treatment Opportunities

On Friday, February 8th, Paul A. Sieving, M.D., Ph.D., director of the National Eye Institute, NIH, will present the the fifth lecture in the Genomics in Medicine Lecture Series at Suburban Hospital, Bethesda, Md. Dr. Sieving will discuss how gene identification has led to dissecting the molecular mechanisms and biological pathways of opthalmic disease, and how these studies have provided ways to explore targeted therapies. Read more

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Special issue highlights nurses' role and practical considerations in genomic healthcare

Ensuring that nurses play a central role in the application of genomics to clinical care is at the core of the 2013 Genomics Special Issue of the Journal of Nursing Scholarship. The publication, coordinated by National Institutes of Health researchers Kathleen Calzone, Ph.D., RN, APNG, FAAN and Jean Jenkins, Ph.D., RN, FAAN, explores genomic variation and its clinical implications for common diseases. Read more

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Genome Advance of the Month

The Power of Sequencing Single Cell Genomes

As the fundamental unit of life, each cell contains a complete copy of an organism's genome, which can undergo dynamic DNA mutations as the cell grows and divides. Studying the genomes of single cells is important for tracking global patterns of change across hundreds or thousands of individual cells, and will help to elucidate changes that occur in DNA over time. In this issue of Genome Advance, we focus on a novel technique that allows researchers to accurately sequence a single cell. Read more

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NHGRI/NIGMS reaffirm robust privacy protections in data sharing

The National Human Genome Research Institute and the National Institute of General Medical Sciences, part of the National Institutes of Health, wrote a policy forum in this week's Science to accompany a research paper on the identifiability of genomic research data. The policy paper reaffirms the Institutes' commitment to the privacy of research participants and the benefits of widespread and open research data sharing. The research paper is from the Whitehead Institute for Biomedical Research in Cambridge, Mass. (For free access, register with Science at the link on the site.)
Read the policy paper [sciencemag.org]
Read the Whitehead Institute Study [sciencemag.org]

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Video available now for Kenneth Fischbeck's neuromuscular disease in the genomic era

If you missed the Genomics in Medicine lecture Developing Treatment for Hereditary Neuromuscular Disease by Kenneth Fischbeck, M.D., NIH distinguished investigator, video of that lecture is now available. Dr. Fischbeck discusses how the identification of hereditary neuromuscular disease genes has brought accurate diagnostic testing and opportunities for developing treatment. Watch the lecture

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Funding Opportunity Announcement

Gene Function Studies to Investigate Rare and Undiagnosed Diseases

Since 2008, the Undiagnosed Disease Program (UDP) in NHGRI's Intramural Research Program has identified more than 15 gene variants that may play a role in very rare disorders. The NIH Common Fund UDP has just announced research funding to determine what these genes do and whether they are involved in diseases.
Read the Announcement
Read additional FOA information

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NIH researchers link enzyme deficiency with faulty DNA replication and cancer

NIH researchers have discovered a cancer-causing flaw that can occur when ATAD5, one of many enzymes in the replication process, is deficient. The defect causes DNA replication to stall and the normal precision of replication proteins to become chaotic. The study appeared in the Dec. 31, 2012, advance online issue of the Journal of Cell Biology. Read more

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Video for The Genetics of Parkinson Disease: Insights from a Mendelian Disorder is now available

On Dec. 7, 2012, Ellen Sidransky, M.D., senior investigator in NHGRI's Medical Genetics Branch, presented The Genetics of Parkinson Disease: Insights from a Mendelian Disorder. The full video of this third lecture in the Genomics in Medicine Lecture series is now available. See the Video

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Join us Jan. 4 for a lecture on neuromuscular disease in the genomic era

On Jan. 4, 2013, Kenneth Fischbeck, M.D., NIH distinguished investigator in the Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke will present a lecture on how the identification of hereditary neuromuscular disease genes has brought accurate diagnostic testing and opportunities for developing treatment. Read more

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NHGRI's Intramural Training Office challenges young scientists to imagine their future

Early career scientists in the National Human Genome Research Institute intramural training program (NHGRI) say that their biggest concern is a challenging job market and what lies ahead for them after their time at NHGRI. To address these worries, NHGRI's Intramural Training Office convened faculty and trainees at the Bolger Center in picturesque Potomac, Maryland, for a one-day meeting. Read more

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