Genetics News and Research

Latest Genetics News and Research

Omixon Target, a next generation sequencing analysis software for targeted sequencing, released by Omixon

Today Omixon – a genomic software company - announced the commercial release of Omixon Target, a next generation sequencing analysis software for targeted sequencing. Omixon built its new software Target with the vision of helping diagnostic labs to adopt next generation sequencing to replace and complement traditional capillary Sanger sequencing.

30 May 2012

Researchers uncover insights into rare genetic disorders

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called cohesinopathies.

30 May 2012

Nature Genetics publishes results from whole genome-wide study of recurrent HBV integration in HCC

The Asian Cancer Research Group (ACRG)—an independent, not-for-profit company established by Eli Lilly and Company, Merck (known as MSD outside the United States and Canada) and Pfizer Inc.—in collaboration with BGI—the world's largest genomics organization—today announced the publication of results from a whole genome-wide study of recurrent hepatitis B virus (HBV) integration in hepatocellular carcinoma (HCC) in Nature Genetics.

30 May 2012

Scientists solve 50-year mystery behind cholera

For 50 years scientists have been unsure how the bacteria that gives humans cholera manages to resist one of our basic innate immune responses. That mystery has now been solved, thanks to research from biologists at The University of Texas at Austin.

30 May 2012

Scientists identify 20 distinct gene mutations in patients with FGD

A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.

30 May 2012

NAC may be an effective therapy for some features of autism

A specific antioxidant supplement may be an effective therapy for some features of autism, according to a pilot trial from the Stanford University School of Medicine and Lucile Packard Children's Hospital that involved 31 children with the disorder.

30 May 2012

Neural protein plays two opposing roles

A protein produced by the central nervous system’s support cells seems to play two opposing roles in protecting nerve cells from damage, an animal study by Johns Hopkins researchers suggests: Decreasing its activity seems to trigger support cells to gear up their protective powers, but increasing its activity appears to be key to actually use those powers to defend cells from harm.

29 May 2012

Major new research facility opens at Imperial College London

A major new research facility at Imperial College London designed to expand and accelerate the translation of scientific discoveries into new ways of preventing, diagnosing and treating diseases was officially opened by George Osborne MP, Chancellor of the Exchequer, today.

28 May 2012

CDKN1C gene mutation contributes to IMAGe syndrome

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics.

28 May 2012

UCLA geneticists identify mutation responsible for IMAGe syndrome

UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.

28 May 2012

Scientists show how hemizygous deletion can contribute to cancer

Chromosomal deletions in DNA often involve just one of two gene copies inherited from either parent. But scientists haven't known how a deletion in one gene from one parent, called a "hemizygous" deletion, can contribute to cancer.

28 May 2012

City of Hope receives CIRM grant to develop T cell-based immunotherapy against glioma

City of Hope was granted a $5,217,004 early translational research award by the California Institute for Regenerative Medicine (CIRM) to support the development of a T cell-based immunotherapy that re-directs a patient's own immune response against glioma stem cells.

28 May 2012

X-chromosome involved in development of bowel cancer

Scientists have shown for the first time that one of the sex chromosomes is involved in the development of a cancer that can afflict both genders, according to a Cancer Research UK-funded study in Nature Genetics.

28 May 2012

Overactive BAALC gene found in people with acute leukemia

A small inherited change in DNA is largely responsible for overactivating a gene linked to poor treatment response in people with acute leukemia.

25 May 2012

Research roundup: Do mandatory screening laws affect disparities?; Mass. health law, 6 years later

Since Massachusetts passed its own expansive health law, the state's uninsured rate has dropped and access to care has dramatically improved. But as this brief notes, two major issues remain. Massachusetts will have to find ways to contain health care costs -- now under discussion in the state legislature -- as well as align itself with the federal health law. In the process, other states "can draw on some of the state's early successes and challenges"

25 May 2012

DiagnoCure’s PCA3 prostate cancer diagnostic test showcased at AUA meeting

DiagnoCure Inc., a Quebec life sciences company that develops and commercializes high-value cancer diagnostic tests, reported that the PROGENSA PCA3 prostate cancer diagnostic test has been featured in a number of presentations and discussions at the American Urological Association (AUA) meeting in Atlanta, GA.

25 May 2012

BBSRC allocates £250M for strategic investment programmes

Minister for Universities and Science, David Willetts, will today announce substantial funding that will ensure the UK's bioscience research base remains globally competitive and at the forefront of meeting the grand challenges faced by society in the coming decades. The announcement will be made by the Minister during a visit to the Babraham Research Campus, near Cambridge, and highlighted again during a major speech at the University of East Anglia in Norwich.

25 May 2012

Fever during pregnancy associated with autism or developmental delay

A team of UC Davis researchers has found that mothers who had fevers during their pregnancies were more than twice as likely to have a child with autism or developmental delay than were mothers of typically developing children, and that taking medication to treat fever countered its effect.

25 May 2012

Researchers uncover series of biological events that implicate stem cells' surroundings

Stem cells are essential building blocks for all organisms, from plants to humans. They can divide and renew themselves throughout life, differentiating into the specialized tissues needed during development, as well as cells necessary to repair adult tissue.

25 May 2012

UCSF receives $20M Sandler Foundation gift for neuroscience research and care

UCSF has received a challenge gift of $20 million from the Sandler Foundation that will provide major support for the university's groundbreaking research and clinical care efforts regarding neurological diseases.

25 May 2012