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Study analyzes genome and exome sequence data from hunter-gatherer participants of South Africa

In a study published online today in Nature, a team of researchers from Penn State University and the University New South Wales present the complete genome sequences of an indigenous hunter-gatherer from the Kalahari Desert and a Bantu from southern Africa, along with three additional whole exome sequences of Kalahari hunter-gatherers.

19 Feb 2010

Common variations in genes associated with microcephaly may explain differences in brain size

A group of Norwegian and American researchers have shown that common variations in genes associated with microcephaly - a neuro-developmental disorder in which brain size is dramatically reduced - may explain differences in brain size in healthy individuals as well as in patients with neurological and psychiatric disorders.

22 Dec 2009

Scientists to develop a treatment for rare genetic disorder, FOP

An international team of scientists, led by researchers at the University of Pennsylvania School of Medicine, is taking the first step in developing a treatment for a rare genetic disorder called fibrodysplasia ossificans progressiva (FOP), in which the body's skeletal muscles and soft connective tissue turns to bone, immobilizing patients over a lifetime with a second skeleton.

13 Nov 2009

ISB and Complete Genomics embark on the largest complete human genome disease association study

The Institute for Systems Biology (ISB) and Complete Genomics Inc. announced today that they are embarking on a large-scale human genome sequencing study of Huntington’s disease (HD). ISB has engaged Complete Genomics to sequence 100 genomes, the majority of which will be used to investigate this disease, with samples from affected individuals, family members, and matched controls to study modifiers of disease presentation and progression.

2 Nov 2009

Discovery of new gene mutations linked to leukemia

Decoding the complete DNA of cancer patients is giving scientists at Washington University School of Medicine in St. Louis a clearer picture of the complexity of the disease and allowing them to see intriguing and unexpected genetic relationships among patients.

5 Aug 2009

DNA template could explain evolutionary shifts

Rearrangements of all sizes in genomes, genes and exons can result from a glitch in DNA copying that occurs when the process stalls at a critical point and then shifts to a different genetic template, duplicating and even triplicating genes or just shuffling or deleting part of the code within them, said researchers from Baylor College of Medicine in a recent report in the journal Nature Genetics.

22 Jun 2009

Synthetic green-glowing genes show how 'silent' mutations influence protein production

Biologists at the University of Pennsylvania have revealed a hidden code that determines the expression level of a gene, providing a way to distinguish efficient genes from inefficient ones.

12 Apr 2009

A new approach for detecting functional genomic regions

A team that includes researchers from the National Institutes of Health (NIH) has found a new way of detecting functional regions in the human genome. The novel approach involves looking at the three-dimensional shape of the genome's DNA and not just reading the sequence of the four-letter alphabet of its DNA bases.

12 Mar 2009

Discovery of new gene associated with Lou Gehrig's disease

A collaborative research effort spanning nearly a decade between researchers at Massachusetts General Hospital (MGH), MIT, the Broad Institute, King's College London (KCL) and other institutions has identified a novel gene for inherited amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease).

5 Mar 2009

New gene associated with Lou Gehrig's disease

A collaborative research effort spanning nearly a decade between researchers at Massachusetts General Hospital (MGH) and King's College London (KCL) has identified a novel gene for inherited amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease).

26 Feb 2009

From the works of Shakespeare to the genomes of viruses

What does uncovering the true authorship of plays attributed to Shakespeare have to do with identifying our genetic ancestors or classifying new life forms?

11 Feb 2009

Scientists discover new class of small RNAs

Researchers at Cold Spring Harbor Laboratory (CSHL) announced today the discovery of a new class of small RNAs. At the same time, they reported that their discovery suggests the presence of a strikingly novel biochemical pathway for RNA processing in which these and possibly other small RNAs are produced.

27 Jan 2009

First genetic map of obesity

The first genetic map of obesity has been constructed using DNA microarray technology.

21 Jan 2009

Biologist finds plant polymerases IV and V are really variants of polymerase II

It's a little like finding out that Superman is actually Clark Kent. A team of biologists at Washington University in St. Louis has discovered that two vital cellular components, nuclear RNA Polymerases IV and V (Pol IV and V), found only in plants, are actually specialized forms of RNA Polymerase II, an essential enzyme of all eukaryotic organisms, including humans.

6 Jan 2009

New gene-silencing pathway found in plants

Biologists at Washington University in St. Louis have made major headway in explaining a mechanism by which plant cells silence potentially harmful genes.

17 Nov 2008

A glimpse of ancient RNA

Some bacterial cells can swim, morph into new forms and even become dangerously virulent - all without initial involvement of DNA. Yale University researchers describe Friday in the journal Science how bacteria accomplish this amazing feat - and in doing so provide a glimpse of what the earliest forms of life on Earth may have looked like.

19 Jul 2008

Three sequencing companies join 1000 Genomes Project

Leaders of the 1000 Genomes Project announced today that three firms that have pioneered development of new sequencing technologies have joined the international effort to build the most detailed map to date of human genetic variation as a tool for medical research. The new participants are: 454 Life Sciences, a Roche company, Branford, Conn.; Applied Biosystems, an Applera Corp. business, Foster City, Calif.; and Illumina Inc., San Diego.

11 Jun 2008

How embryonic stem cells develop into tissue-specific cells demonstrated by researchers

While it has long been known that embryonic stem cells have the ability to develop into any kind of tissue-specific cells, the exact mechanism as to how this occurs has heretofore not been demonstrated.

12 May 2008

FGFR2 gene increases susceptibility to breast cancer

Much work has been done to identify genetic variations that predispose women to breast cancer. Previous work showed that variants in the gene called fibroblast growth factor receptor 2 (FGFR2) were associated with increased risk of the disease, but how these variants translated into increased risk was unknown.

6 May 2008

What we eat and drink affects our risk of cancer

A healthy diet and lifestyle protect against a wide range of diseases, and new research presented at the American Association for Cancer Research 2008 Annual Meeting, April 12-16, shows that cancer is no exception.

13 Apr 2008