NHGRI-Related News

New under the sun: recurrent genetic mutations in melanoma

Wed, 9 May 2012 12:00:00 EST

Melanoma — the deadliest and most aggressive form of skin cancer — has long been linked to time spent in the sun. Now a team led by scientists from the Broad Institute and Dana-Farber Cancer Institute has sequenced the whole genomes of 25 metastatic melanoma tumors, confirming the role of chronic sun exposure and revealing new genetic changes important in tumor formation. In an article published online May 9 in Nature, the authors provide the first high-resolution view of the genomic landscape of human melanoma tumors. The work was supported in part by the National Human Genome Research Institute.

Researchers announce GenomeSpace environment to connect genomic tools

Wed, 25 Apr 2012 12:00:00 EST

Researchers from the Broad Institute of MIT and Harvard have announced that GenomeSpace, a software environment that seamlessly connects genomic analysis tools, is now available to the scientific community. During her keynote address at Bio-IT World Conference and Expo on Tuesday, Jill Mesirov, director of computational biology and bioinformatics at the Broad Institute, invited biomedical researchers and tool developers to explore this beta release of the new resource and to use it in their work.

DNA sequencing consortium unveils patterns of mutations in autism

Thu, 5 Apr 2012 12:00:00 EST

A consortium led by researchers from the Broad Institute, Massachusetts General Hospital (MGH), and six other organizations has taken a step toward addressing these questions by searching for mutations in the fraction of the human genome that codes for proteins. The researchers sequenced this region, known as the "exome," in 175 autism patients and their unaffected parents, looking for single-letter DNA changes present only in the children. Their results, along with simultaneously published findings from two other research groups, suggest modest roles for hundreds of genes in the development of autism and pinpoint a few specific genes as genuine risk factors. The work is described in a paper that appears online April 4 in the journal Nature. The research was supported by ARRA funding from the National Human Genome Research Institute and the National Institute of Mental Health.

Tiny fish bares all: New insights on evolution from study of sticklebacks

Thu, 5 Apr 2012 12:00:00 EST

Researchers at the Stanford University School of Medicine and the Broad Institute have analyzed the whole-genome sequence of 21 threespine sticklebacks chosen from geographic locations around the world. The findings, which will appear in the April 5 issue of Nature, better identify which regions of the genome are responsible for the stickleback's many variations. Scientists found that the animals — despite their different haunts — repeatedly developed the same traits through changes in similar regions of their genomes. The research was supported by the National Human Genome Research Institute.

Tiny reader makes fast, cheap DNA sequencing feasible

Tue, 27 Mar 2012 12:00:00 EST

Researchers have devised a nanoscale sensor to electronically read the sequence of a single DNA molecule, a technique that is fast and inexpensive and could make DNA sequencing widely available. The technique could lead to affordable personalized medicine, potentially revealing predispositions for afflictions such as cancer, diabetes or addiction.

What have we got in common with a Gorilla?

Wed, 7 Mar 2012 12:00:00 EST

Researchers announce today that they have completed the genome sequence for the gorilla — the last genus of the living great apes to have its genome decoded. While confirming that our closest relative is the chimpanzee, the team show that much of the human genome more closely resembles the gorilla than it does the chimpanzee genome. This is the first time scientists have been able to compare the genomes of all four living great apes: humans, chimpanzees, gorillas and orang-utans. NHGRI researchers contributed to the study.

Confused by genetic tests? NIH's new online tool may help

Wed, 29 Feb 2012 12:00:00 EST

An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at www.ncbi.nlm.nih.gov/gtr. [ncbi.nlm.nih.gov]

Express Yourself: How Zygotes Sort Out Imprinted Genes

Fri, 17 Feb 2012 12:00:00 EST

Writing in the February 17, 2012 issue of the journal Cell, researchers at the Ludwig Institute for Cancer Research, the University of California, San Diego School of Medicine and the Toronto Western Research Institute peel away some of the enduring mystery of how zygotes or fertilized eggs determine which copies of parental genes will be used or ignored. The research was funded in part by the National Human Genome Research Institute.

UNC-based collaboration, NC resources fuel genetics and disease discoveries

Thu, 16 Feb 2012 12:00:00 EST

A series of scientific papers published this week put North Carolina at the center of a scientific resource that could help fast-track important discoveries about genetics and disease, resulting in new tests and treatments that benefit human health. Scientists have begun to create libraries of genetic material and the UNC-based Collaborative Cross is one such resource. Lead author Pardo-Manuel de Villena lauded the efforts of the collaborative cross consortium, a global group of scientists that includes National Institutes of Health Director Francis S. Collins, M.D., Ph.D., and National Human Genome Research Institute scientist Samir Kelada, Ph.D.

Fruit Fly Genome Catalog Completed

Thu, 9 Feb 2012 12:00:00 EST

Scientists searching for the genomics version of the holy grail — more insight into predicting how an animal's genes affect physical or behavioral traits — now have a reference manual that should speed gene discoveries in everything from pest control to personalized medicine. In a paper published Feb. 8 in Nature, North Carolina State University genetics researchers team with scientists from across the globe to describe the new reference manual - the Drosophila melanogaster Reference Panel, or DGRP. The research was funded in part by the National Human Genome Research Institute.

Gut microbe networks differ from norm in obese people, systems biology approach reveals

Thu, 12 Jan 2012 12:00:00 EST

From the University of Washington: For the first time, researchers have analyzed the multitude of microorganisms residing in the human gut as a complex, integrated biological system, rather than a set of separate species. Their approach has revealed patterns that correspond with excess body weight. The research was funded in part by the National Human Genome Research Institute.

Chemotherapy may influence leukemia relapse

Wed, 11 Jan 2012 12:00:00 EST

From the Washington University in St. Louis: The chemotherapy drugs required to push a common form of adult leukemia into remission may contribute to DNA damage that can lead to a relapse of the disease in some patients, findings of a new study suggest. The research, by a team of physicians and scientists at Washington University School of Medicine in St. Louis, is published Jan. 11 in the advance online edition of Nature. The research was funded in part by the National Human Genome Research Institute.