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EPFL scientists develop computer tool to identify mutations that make influenza resistant to Tamiflu

Tamiflu is one of the few available treatments for those who come down with the flu. But the virus quickly develops resistance; multiplying at a rate of several generations a day, these tiny pathogens rapidly accumulate genetic mutations. Because of this, they have a good chance of developing counterattacks to the antiviral. How can these infinitesimal variations be identified within the immensity of the virus' genetic code? EPFL researchers have created a computer tool that can shed light on the flu virus' formidable adaptability.

1 Apr 2014

Machaon Diagnostics' aHUS Genetic Panel confirms atypical Hemolytic Uremic Syndrome in 48 hours

Machaon Diagnostics today announced the availability of its "aHUS Genetic Panel" (patent pending) to genetically confirm atypical Hemolytic Uremic Syndrome (aHUS) with a turnaround time of 48 hours. The 48 hour timeframe is a dramatic advancement over other approaches which offer results in 4-13 weeks.

1 Apr 2014

Researchers identify two new genes associated with intellectual disability

Researchers at the Centre for Addiction and Mental Health have discovered two new genes linked to intellectual disability, according to two research studies published concurrently this month in the journals Human Genetics and Human Molecular Genetics.

1 Apr 2014

Experimental anticancer compound appears to reverse behaviors associated with schizophrenia

Johns Hopkins researchers say that an experimental anticancer compound appears to have reversed behaviors associated with schizophrenia and restored some lost brain cell function in adolescent mice with a rodent version of the devastating mental illness.

1 Apr 2014

New gene-editing system holds potential for treating many genetic disorders

Using a new gene-editing system based on bacterial proteins, MIT researchers have cured mice of a rare liver disorder caused by a single genetic mutation.

31 Mar 2014

Potassium boost improves walking, prolongs survival in mouse model of Huntington's disease

Tweaking a specific cell type's ability to absorb potassium in the brain improved walking and prolonged survival in a mouse model of Huntington's disease, reports a UCLA study published March 30 in the online edition of Nature Neuroscience. The discovery could point to new drug targets for treating the devastating disease, which strikes one in every 20,000 Americans.

31 Mar 2014

New high-risk cancer causing mutation identified for melanoma development

Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma.

31 Mar 2014

Johns Hopkins neuroscientists identify cause of brain degeneration in Huntington's disease

Working with genetically engineered mice, Johns Hopkins neuroscientists report they have identified what they believe is the cause of the vast disintegration of a part of the brain called the corpus striatum in rodents and people with Huntington's disease: loss of the ability to make the amino acid cysteine.

29 Mar 2014

Idera Pharmaceuticals reports positive top-line results from Phase 2 trial of IMO-8400

Idera Pharmaceuticals, Inc. today announced positive top-line data from its randomized, double-blind, placebo controlled Phase 2 trial of IMO-8400 in 32 patients with moderate-to-severe plaque psoriasis.

28 Mar 2014

Discovery could lead to major breakthrough in breast and ovarian cancer

Cancer researchers at Queen's University Belfast have made a breakthrough which could signal new treatments for women at high risk of breast and ovarian cancer.

28 Mar 2014

Researchers find new drug target for mitochondrial dysfunction

Mitochondria, long known as "cellular power plants" for their generation of the key energy source adenosine triphosphate (ATP), are essential for proper cellular functions. Mitochondrial defects are often observed in a variety of diseases, including cancer, Alzheimer's disease, and Parkinson's disease, and are the hallmarks of a number of genetic mitochondrial disorders whose manifestations range from muscle weakness to organ failure. Despite a fairly strong understanding of the pathology of such genetic mitochondrial disorders, efforts to treat them have been largely ineffective.

28 Mar 2014

Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

IRCM researchers led by Javier M. Di Noia, PhD, uncovered a new function of AID, a crucial enzyme for the immune response. The discovery, recently published by the scientific journal Proceedings of the National Academy of Sciences, helps explain a rare genetic disorder that causes an immunodeficiency syndrome.

28 Mar 2014

IRB researchers identify dual role of p38 protein in colon cancer

A team headed by Angel R. Nebreda at the Institute for Research in Biomedicine identifies a dual role of the p38 protein in colon cancer. The study demonstrates that, on the one hand, p38 is important for the optimal maintenance of the epithelial barrier that protects the intestine against toxic agents, thus contributing to decreased tumour development.

28 Mar 2014

Novartis’ investigational compound achieves overall response rate of 58% in patients with ALK+ NSCLC

Novartis today announced that The New England Journal of Medicine (NEJM) published clinical trial results showing the investigational compound LDK378 (ceritinib) achieved an overall response rate (ORR, including complete response [CR] and partial response [PR]) of 58% and a median progression-free survival (PFS) of seven months in adults with advanced anaplastic lymphoma kinase positive (ALK+) non-small cell lung cancer (NSCLC) who received 400 mg or higher of LDK378 per day.

28 Mar 2014

Research pinpoints location of key genetic regulators in blood cells

Research published online today in Blood, the Journal of the American Society of Hematology, presents an unprecedented look at five unique blood cells in the human body, pinpointing the location of key genetic regulators in these cells and providing a new tool that may help scientists to identify how blood cells form and shed light on the etiology of blood diseases.

27 Mar 2014

New era of lung cancer therapy close to dawning

A new era of lung cancer therapy is close to dawning, using drugs that can prevent tumour cells from evading the immune system, experts have said at the 4th European Lung Cancer Congress.

27 Mar 2014

Johns Hopkins researchers identify protein that regulates the body's immune response to CMV

Infectious disease specialists at the Johns Hopkins Children's Center have identified a protein that regulates the body's immune response to cytomegalovirus (CMV), a common pathogen that causes lifelong infections and can lead to devastating illness in newborns and those with weakened immune systems.

27 Mar 2014

Oral cancer drug improves outcomes in women with resistant gynecologic cancers

An oral cancer drug improves outcomes while minimizing side effects in women with gynecologic cancers who carry a BRCA mutation and whose disease is not responding to other therapies, suggests preliminary research.

26 Mar 2014

EKF Molecular to exhibit PointMan DNA-enrichment technology at AACR 2014

EKF Diagnostics, the global in vitro diagnostics business, will be present on Booth #438 at AACR 2014, 5-9th April, San Diego.

From EKF Diagnostics 26 Mar 2014

Scientists discover why cerebellar granule cell neurons in A-T patients fail to repair DNA damage

A team of scientists, led by Stuart Lipton, M.D., Ph.D., professor and director of the Neuroscience and Aging Research Center at Sanford-Burnham Medical Research Institute, recently discovered why cerebellar granule cell neurons in patients suffering from ataxia-telangiectasia (A-T) were unable to repair DNA damage and thus died.

26 Mar 2014

Mutation News and Research

EPFL scientists develop computer tool to identify mutations that make influenza resistant to Tamiflu

Machaon Diagnostics' aHUS Genetic Panel confirms atypical Hemolytic Uremic Syndrome in 48 hours

Researchers identify two new genes associated with intellectual disability

Experimental anticancer compound appears to reverse behaviors associated with schizophrenia

New gene-editing system holds potential for treating many genetic disorders

Potassium boost improves walking, prolongs survival in mouse model of Huntington's disease

New high-risk cancer causing mutation identified for melanoma development

Johns Hopkins neuroscientists identify cause of brain degeneration in Huntington's disease

Idera Pharmaceuticals reports positive top-line results from Phase 2 trial of IMO-8400

Discovery could lead to major breakthrough in breast and ovarian cancer

Researchers find new drug target for mitochondrial dysfunction

Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

IRB researchers identify dual role of p38 protein in colon cancer

Novartis’ investigational compound achieves overall response rate of 58% in patients with ALK+ NSCLC

Research pinpoints location of key genetic regulators in blood cells

New era of lung cancer therapy close to dawning

Johns Hopkins researchers identify protein that regulates the body's immune response to CMV

Oral cancer drug improves outcomes in women with resistant gynecologic cancers

EKF Molecular to exhibit PointMan DNA-enrichment technology at AACR 2014

Scientists discover why cerebellar granule cell neurons in A-T patients fail to repair DNA damage

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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