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Latest Human genome Stories

2013-09-30 10:17:55

As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis. The parents of this first patient sought genetic testing for Prader-Willi syndrome when he was only a year old, but the test, which was still in its infancy, came back negative. For the next 12 years, his parents were left in limbo. He had many features of the disease – including lack of muscle tone, feeding difficulties...

2013-09-27 10:17:00

Findings may open up new treatment options by extending therapies effective in one cancer type to others with a similar genomic profile Cancer encompasses a complex group of diseases traditionally defined by where in the body it originates, as in lung cancer or colon cancer. This framework for studying and treating cancer has made sense for generations, but molecular analysis now shows that cancers of different organs have many shared features, while cancers from the same organ or tissue...

2013-09-26 13:13:17

As gene sequencing technologies rapidly advance and new genomic data becomes available, so does the need for a better understanding and consensus on which gene changes are relevant to diagnosis and treatment. With a $8.4 million, four-year grant announced today from the National Human Genome Research Institute, researchers from Baylor College of Medicine and The Stanford University School of Medicine hope to address this need by creating a central resource. "The Stanford/Baylor effort...

2013-09-26 13:11:00

Sometimes, when the DNA in a cell is copied during cell division, there is a mistake. A large portion of the genetic material could be duplicated or deleted. In each instance, there is often a greatly enhanced potential for serious genetic disease. Such changes are known as copy number variation (CNV) referring to the numbers of copies of a gene. Instead of ‘letters of the DNA alphabet’ being changed or missing, whole sentences, entire paragraphs or even pages/volumes of the encyclopedia...

2013-09-26 13:01:57

Three grants totaling more than $25 million over four years will help three research groups to develop authoritative information on the millions of genomic variants relevant to human disease and the hundreds that are expected to be useful for clinical practice. The awards are from the National Institutes of Health. More and more medical and research centers are sequencing the DNA of whole genomes (the body's entire genetic blueprint) or exomes (the genome's protein-coding region) of...

2013-09-16 11:33:23

European scientists, led by researchers from the University of Geneva (UNIGE)'s Faculty of Medicine in the context of the GEUVADIS project, today present a map that points to the genetic causes of differences between people. The study, published in Nature and Nature Biotechnology, offers the largest-ever dataset linking human genomes to gene activity at the level of RNA. Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest...

2013-09-11 23:19:44

The Port incubator continues to concentrate a global network of innovators within the Philadelphia region. Philadelphia, Pa. (PRWEB) September 11, 2013 BGI Health Americas, a U.S. subsidiary of BGI, one of the world’s leading research and genomics institutions, has opened an office at the University City Science Center’s Port business incubator. Founded in Beijing in 1999 as Beijing Genomics Institute, BGI uses advanced technology platforms to study genetic structure, gene function...

2013-09-03 10:13:25

The mitochondria are the powerhouses of the cell, converting energy into usable forms. When a child is born with a gene defect that results in dysfunctional mitochondria, the results can be devastating, causing physical and cognitive disability and often death. Using genome-wide sequencing along with personalized functional genomics, researchers led by those at Baylor College of Medicine have identified mutations in a gene called FBXL4 revealing it as a novel cause of primary mitochondrial...

2013-08-26 11:55:31

Concealed within the vastness of the human genome, (comprised of some 3 billion base pairs), mutations are commonplace. While the majority of these appear to have neutral effect on human health, many others are associated with diseases and disease susceptibility. Reed Cartwright, a researcher at Arizona State University's Biodesign Institute, along with colleagues at ASU, Washington University and the Wellcome Trust Sanger Institute, Cambridge, UK, report on a new software tool known as...


Word of the Day
negawatt
  • A unit of saved energy.
Coined by Amory Lovins, chairman of the Rocky Mountain Institute as a contraction of negative watt on the model of similar compounds like megawatt.