Mutation News and Research

RSS

Researchers identify unusual genomic architecture linked with very severe forms of disease

When cells divide normally, DNA gets copied perfectly and distributed among the daughter cells with an even hand. Occasionally though, DNA breaks during division and is rearranged, resulting in duplications or deletions of important parts of the blueprint.

3 Oct 2011

Scientists discover 16 million SNPs that associate with increased risk of ovarian cancer

Scientists at deCODE Genetics and academic collaborators from Iceland, The Netherlands, Spain and Finland today report the discovery of variants in the human genome that associate with increased risk of invasive ovarian cancer, one of the deadliest forms of cancer in women.

3 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

Researchers discover new inherited disorder that causes mental retardation, liver dysfunction

Researchers at the Swedish medical university Karolinska Institutet have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused by mutations in the ADK gene, which codes for the enzyme adenosine kinase.

1 Oct 2011

ALK gene discovered by St. Jude scientists associated with FDA approved adult cancer drug

A drug recently approved by the U.S. Food and Drug Administration for treatment of an adult cancer targets a malfunctioning gene discovered more than a decade earlier at St. Jude Children's Research Hospital. The story highlights how scientific findings from St. Jude can be translated into therapies and tests that in addition to helping children, also help adults.

30 Sep 2011

GWAS uncovers new genes associated with type 1 diabetes

The largest-ever analysis of genetic data related to type 1 diabetes has uncovered new genes associated with the common metabolic disease, which affects 200 million people worldwide. The findings add to knowledge of gene networks involved in the origin of this complex disorder, in which patients depend on frequent insulin injections to control their blood sugar levels.

30 Sep 2011

VDC and P.A.D. Coalition present annual research awards at VDF's eighth annual meeting

The Venous Disease Coalition (VDC) and Peripheral Arterial Disease Coalition presented their annual research awards at the Vascular Disease Foundation's eighth annual meeting in Washington.

30 Sep 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

Plausible way to circumvent drug resistance in breast cancer cells

Breast cancer cells that mutate to resist drug treatment survive by establishing tiny pumps on their surface that reject the drugs as they penetrate the cell membrane - making the cancer insensitive to chemotherapy drugs even after repeated use.

29 Sep 2011

Scientists discover effective target to kill late-stage metastatic prostate cancer cells

Purdue University scientists believe they have found an effective target for killing late-stage, metastatic prostate cancer cells.

29 Sep 2011

New method for quickly identifying individual viruses

A new method for quickly identifying individual viruses and recognising how they bind to host cells may become a vital tool in the early control of winter vomiting disease and other virus-based diseases. In the west, this means saving money and reducing stress on health-care systems. In developing countries, this means saving lives.

28 Sep 2011

UCI professor wins Presidential Early Career Award for Scientists & Engineers

Rommie Amaro, UC Irvine assistant professor of pharmaceutical sciences and computer science, has been selected by President Obama for the Presidential Early Career Award for Scientists & Engineers.

28 Sep 2011

Asians struggling with alcoholism may benefit from naltrexone

New UCLA psychology research indicates that Asians who are struggling with alcoholism may benefit especially from naltrexone, one of three medications approved by the U.S. Food and Drug Administration for the treatment of alcoholism.

28 Sep 2011

Close link between SF3B1 mutation and specific feature of myelodysplastic syndromes

Geneticists have discovered that a gene involved in the modification of ribonucleic acid (RNA) is mutated in a significant proportion of people with a collection of blood cancers called myelodysplastic syndromes.

27 Sep 2011

Afraxis to participate in NIH's Therapeutics for Rare and Neglected Disease Program

Afraxis, a San Diego-based biotechnology company developing drugs to treat rare genetic diseases through the modulation of p21-activated kinase (PAK), announced today that it has been selected to participate in the National Institutes of Health's (NIH) Therapeutics for Rare and Neglected Disease (TRND) Program.

27 Sep 2011

Lead compound activates infection-fighting REDD1 protein and kills flu strain

A compound tested by UT Southwestern Medical Center investigators destroys several viruses, including the deadly Spanish flu that killed an estimated 30 million people in the worldwide pandemic of 1918.

27 Sep 2011

Researchers identify frequent SF3B1 gene mutation in myelodysplasia

A genomic study of chronic blood cancer - a precursor to leukaemia - has discovered gene mutations that could enable diagnosis using only a blood test, avoiding the need for an invasive and painful bone marrow biopsy.

27 Sep 2011

Alnylam commences ALN-PCS Phase I trial in severe hypercholesterolemia

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has initiated dosing in its Phase I clinical trial with ALN-PCS, an RNAi therapeutic targeting proprotein convertase subtilisin/kexin type 9, or PCSK9, for the treatment of severe hypercholesterolemia.

27 Sep 2011

Long-term results from ARIAD's ponatinib Phase 1 study on CML and Ph+ ALL

ARIAD Pharmaceuticals, Inc. today announced long-term results of the Phase 1 study of its investigational pan-BCR-ABL inhibitor, ponatinib, in heavily pretreated patients with resistant and refractory chronic myeloid leukemia (CML) and Philadelphia-positive acute lymphoblastic leukemia.

26 Sep 2011

Duplication of RPS6KA3 gene produces limited family intellectual disability

The financial contributions made some years ago by individuals and public administration bodies in the telemarathon solidarity events on the Basque Public Broadcasting Corporation (EiTB) and subsequently channelled through the Basque Foundation for Health Innovation and Research (BIOEF), has resulted in undertaking successful innovative research at the Cruces Hospital near Bilbao in the Basque province of Bizkaia, describing a new syndrome of limited family intellectual disability.

26 Sep 2011

Mutation News and Research

Researchers identify unusual genomic architecture linked with very severe forms of disease

Scientists discover 16 million SNPs that associate with increased risk of ovarian cancer

UCSF protein researcher wins NIH's Early Independence Award

Researchers discover new inherited disorder that causes mental retardation, liver dysfunction

ALK gene discovered by St. Jude scientists associated with FDA approved adult cancer drug

GWAS uncovers new genes associated with type 1 diabetes

VDC and P.A.D. Coalition present annual research awards at VDF's eighth annual meeting

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

Plausible way to circumvent drug resistance in breast cancer cells

Scientists discover effective target to kill late-stage metastatic prostate cancer cells

New method for quickly identifying individual viruses

UCI professor wins Presidential Early Career Award for Scientists & Engineers

Asians struggling with alcoholism may benefit from naltrexone

Close link between SF3B1 mutation and specific feature of myelodysplastic syndromes

Afraxis to participate in NIH's Therapeutics for Rare and Neglected Disease Program

Lead compound activates infection-fighting REDD1 protein and kills flu strain

Researchers identify frequent SF3B1 gene mutation in myelodysplasia

Alnylam commences ALN-PCS Phase I trial in severe hypercholesterolemia

Long-term results from ARIAD's ponatinib Phase 1 study on CML and Ph+ ALL

Duplication of RPS6KA3 gene produces limited family intellectual disability

Revolutionizing Life Science: An Interview with SCIEX on ASMS, the SCIEX 7500+ System, and AI-Driven Quantitation

From Discovery Biology to ELRIG Chair

Breathing New Life into Diagnostics: Plasmion's SICRIT Technology

Latest News