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Researchers discover over 500 genes that may contribute to pancreatic cancer

A global team led by scientists from The Methodist Hospital Research Institute has identified more than 500 genes that may cause or contribute to the development of pancreatic cancer.

13 Mar 2012

New, freely available Web-based program helps predict effect of mutations on mRNA splicing

In a brief paper in the journal Bioinformatics, Brown University researchers describe a new, freely available Web-based program called Spliceman for predicting whether genetic mutations are likely to disrupt the splicing of messenger RNA, potentially leading to disease.

6 Mar 2012

UA researchers identify the likely culprit of epilepsy

Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction. It was the time of the Human Genome Project, and it had taken armies of sequencing robots working around the clock for almost a decade to unravel the complete sequence of the human genetic code - referred to as the genome - by churning out the DNA alphabet letter by letter.

24 Feb 2012

First evidence links cancer to mutations in genes involved in DNA organization

St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project provides first evidence linking cancer to mutations in genes involved in DNA organization

30 Jan 2012

New path for individually tailored cancer therapy

The Institute of Translational Oncology (TRON) together with BioNTech AG today announced the publication of a joint paper in the international journal Cancer Research that describes a new path for individually tailored cancer therapy.

18 Jan 2012

NimbleGen Sequence Capture 385K array identifies gene mutations linked with hereditary hearing loss

Hereditary hearing loss is the most common sensory disorder in humans. A German research team led by Ingo Kurth from the Institute of Human Genetics at the University Hospital Jena, Germany, used a number of different methods, including Roche's NimbleGen Custom Sequence Capture 385K array to identify the gene mutated in the disease locus of the X-chromosome of a Spanish family with hereditary hearing loss.

13 Jan 2012

Math model reveals that spatial tissue structure delays tumor formation

Cancer growth normally follows a lengthy period of development. Over the course of time, genetic mutations often accumulate in cells, leading first to pre-cancerous conditions and ultimately to tumour growth. Using a mathematical model, scientists at the Max Planck Institute for Dynamics and Self-Organization in G-ttingen, University of Pennsylvania and University of California San Francisco, have now shown that spatial tissue structure, such as that found in the colon, slows down the accumulation of genetic mutations, thereby delaying the onset of cancer.

20 Dec 2011

Scientists identify gene mutation behind Waldenstrom's macroglobulinemia

Scientists at Dana-Farber Cancer Institute have identified a gene mutation that underlies the vast majority of cases of Waldenstrom's macroglobulinemia, a rare form of lymphoma that has eluded all previous efforts to find a genetic cause.

13 Dec 2011

Mutation on surface of human red blood cells provides protection against vivax malaria

A mutation on the surface of human red blood cells provides protection against malaria caused by the parasite Plasmodium vivax, research led by Case Western Reserve University School of Medicine shows.

2 Dec 2011

Researchers demonstrate that iPS stem cells may be used for gene therapy

This research, published on Oct. 12 on the Nature review website, provides evidence of a major concept could pave the way for the future use of these stem cells to treat humans, through perspective gene therapies.

14 Oct 2011

UCSF protein researcher wins NIH's Early Independence Award

James Fraser, PhD, a protein researcher who studies structural biology at the California Institute for Quantitative Biosciences (QB3) at the University of California, San Francisco (UCSF), is one of 10 recipients of a prestigious award for young scientists given for the first time by the National Institutes of Health.

1 Oct 2011

Tobacco companies deliberately kept findings of cancer-causing radioactive particles from the public

Tobacco companies knew that cigarette smoke contained radioactive alpha particles for more than four decades and developed "deep and intimate" knowledge of these particles' cancer-causing potential, but they deliberately kept their findings from the public, according to a new study by UCLA researchers.

29 Sep 2011

Study suggests link between gene variant and Proteus syndrome

Orthopaedic surgeons from Children's National Medical Center are part of a team of researchers that has identified the genetic mutation causing Proteus syndrome, a rare disorder in which tissue and bone grow massively out of proportion.

11 Aug 2011

Humans' desire to kill rats has only made them stronger

Over millennia, mice have thrived despite humanity's efforts to keep them at bay. A Rice University scientist argues some mice have found two ways to achieve a single goal -- resistance to common poison.

22 Jul 2011

Salk researchers successfully edit diseased gene in patient-specific induced pluripotent stem cells

In principle, genetic engineering is simple, but in practice, replacing a faulty gene with a healthy copy is anything but. Using mutated versions of the lamin A gene as an example to demonstrate the versatility of their virus-based approach, researchers at the Salk Institute for Biological Studies successfully edited a diseased gene in patient-specific induced pluripotent stem cells as well as adult stem cells.

21 May 2011

Mitochondrial defect inherited from mother is linked to high blood pressure in one Chinese family

A specific genetic defect in one Chinese family shows that high blood pressure was inherited from the female parent, researchers report in Circulation Research: Journal of the American Heart Association.

1 Apr 2011

Scientists find reprogramming-associated mutations in hiPSCs

Ordinary human cells reprogrammed as induced pluripotent stem cells may ultimately revolutionize personalized medicine by creating new and diverse therapies unique to individual patients.

3 Mar 2011

Progeria-derived iPS cells may treat aging-related disease in children

The current pace of population aging is without parallel in human history but surprisingly little is known about the human aging process, because lifespans of eight decades or more make it difficult to study. Now, researchers at the Salk Institute for Biological Studies have replicated premature aging in the lab, allowing them to study aging-related disease in a dish.

24 Feb 2011

Scientists use full genome sequencing to identify precise steps in molecular evolution of S. pneumoniae

Despite penicillin and the dozens of antibiotics that followed it, streptococcus bacteria have remained a major threat to health throughout the world. The reason: the superb evolutionary skills of this pathogen to rapidly alter its genetic makeup.

29 Jan 2011

'Pacemaker' Hcn4 gene responsible for generation of repetitive activity in SAN tissue and heart rate regulation

The study of Dario DiFrancesco and his equipe identifies the "pacemaker" Hcn4 gene as the gene functionally responsible for the generation of repetitive activity in sinoatrial node tissue and for the regulation of heart rate. Hcn4 codes for HCN4 channels, the molecular components of "funny" ion channels of pacemaker cells of the sinoatrial node (SAN) tissue.

14 Jan 2011