Mutation News and Research

RSS

Merck Canada announces conditional approval of KEYTRUDA (pembrolizumab) for melanoma treatment

Merck Canada Inc. announced today that KEYTRUDATM (pembrolizumab) was authorized for sale with conditions by Health Canada on May 19, 2015. KEYTRUDA is a humanized monoclonal antibody that works by increasing the ability of the body's immune system to fight advanced melanoma, the most serious form of skin cancer. It is the first of a new class of therapies called anti-PD-1s approved in Canada.

8 Jun 2015

Researchers discover genetic mutation responsible for thoracic aortic aneurysm and dissection

Thoracic aortic aneurysm and dissection (TAAD), an enlargement or tearing of the walls of the aorta in the chest, is, together with abdominal aortic aneurysms, responsible for about 2% of all deaths in Western countries. The aorta is the largest artery in the body, and carries blood from the heart. About one out of every five patients with TAAD has a family member with the same disorder, therefore indicating a genetic cause.

8 Jun 2015

Non-invasive prenatal testing for Down's syndrome acceptable to parents

Non-invasive prenatal testing (NIPT) for Down's syndrome is feasible, acceptable to parents, and could be introduced into the National Health Service, UK researchers say. The results of a National Institute for Health Research study carried out by the first NHS laboratory to provide NIPT testing will be reported to the annual conference of the European Society of Human Genetics today (Saturday).

8 Jun 2015

Researchers reveal that 6.5% of de novo genetic mutations occur during embryonic development

Until now, de novo genetic mutations, alterations in a gene found for the first time in one family member, were believed to be mainly the result of new mutations in the sperm or eggs (germline) of one of the parents and passed on to their child.

7 Jun 2015

Rhythm announces initiation of two setmelanotide Phase 2 trials for treatment of PWS, POMC-null obesity

Rhythm announced today the initiation of two Phase 2 clinical trials focused on evaluating the safety and effectiveness of setmelanotide (RM-493), the company's novel melanocortin 4 receptor (MC4R) agonist, for the treatment of Prader-Willi Syndrome (PWS) and POMC-null obesity.

4 Jun 2015

New strategy involving three-pronged approach may keep lung cancer aside

Lung cancer is the leading cause of cancer death worldwide, responsible for some 1.59 million deaths a year. That figure is due, in part, to the fact that lung cancer often returns after what seems at first to be successful treatment. However, the recurring cancer is often resistant to the chemotherapy and other drugs that originally drove it into remission.

4 Jun 2015

Scientists make breakthrough in schizophrenia research

An international team of scientists led by Cardiff University researchers has provided the strongest evidence yet of what causes schizophrenia - a condition that affects around 1% of the global population.

4 Jun 2015

Scientists uncover why some people more prone to major depression

Scientists are beginning to unwrap the biology behind why some people are more prone to major depression and other psychiatric disorders than others when experiencing stressful life events. The researchers found that cellular activity in response to stress hormone receptor activation differs from individual to individual.

4 Jun 2015

U of T researchers uncover new insights on genetic causes of ALS

Researchers at the University of Toronto have uncovered new insights on the genetic causes of Amyotrophic Lateral Sclerosis (ALS), which is also known as Lou Gehrig's disease. These findings could uncover a new way to detect a genetic predisposition to ALS before the disease strikes.

4 Jun 2015

Scientists produce strongest evidence yet of schizophrenia’s causes

3 Jun 2015

The Lancet publishes new Seminar on MERS

Middle East respiratory syndrome (MERS) has recently returned to the headlines as new cases have been exported to Korea and China. Experts are concerned that MERS cases continued to be detected in Saudi Arabia throughout the past year, and there appears to be little reduction in the number of cases since its first discovery three years ago. As the month of Ramadan approaches, with 1 million pilgrims expected to arrive in Saudi Arabia in June and July 2015, MERS remains a threat to global health security.

3 Jun 2015

Majority of breast cancer patients unaware of the effect of double mastectomy

A survey of women with breast cancer found that nearly half considered having a double mastectomy. But of those who considered it, only 37 percent knew that the more aggressive procedure does not improve survival for women with breast cancer.

3 Jun 2015

Feinberg physiology professor named recipient of 2015 AES Seed Grant

Today the American Epilepsy Society announced Anis Contractor, Ph.D., Associate Professor of Physiology at Northwestern University, Feinberg School of Medicine, as the recipient of a 2015 AES Seed Grant. Dr. Contractor's proposed research seeks to address a fundamental question about cellular and circuit level excitability in the mouse model of Dravet Syndrome.

3 Jun 2015

University of Adelaide research shows genetics play vital role in the cause of cerebral palsy

University of Adelaide researchers have discovered cerebral palsy has an even stronger genetic cause than previously thought, leading them to call for an end to unnecessary caesareans and arbitrary litigation against obstetric staff.

3 Jun 2015

UC Santa Cruz-led study offers new insights into molecular mechanisms of biological clock

A new study led by UC Santa Cruz researchers has found that a protein associated with cancer cells is a powerful suppressor of the biological clock that drives the daily ("circadian") rhythms of cells throughout the body.

3 Jun 2015

National Psoriasis Foundation awards grants to support psoriatic disease research

The National Psoriasis Foundation awarded eight researchers each a one-year, $75,000 Discovery Grant to support the advancement of psoriatic disease research. By gaining a better understanding of the fundamentals of psoriatic disease--what causes psoriasis and psoriatic arthritis and what happens in the body when these diseases are present--scientists can work on better treatments and a cure.

3 Jun 2015

Scientists identify gene mutation that causes color blindness

A rare eye disorder marked by color blindness, light sensitivity, and other vision problems can result from a newly discovered gene mutation identified by an international research team, including scientists from Columbia University Medical Center.

3 Jun 2015

Celldex’s lead program RINTEGA demonstrates overall survival benefit in patients with recurrent glioblastoma

Celldex Therapeutics, Inc. today presented positive results from the Company’s randomized, double‐blind Phase 2 study of RINTEGA (rindopepimut) in patients with EGFRvIII‐positive, recurrent glioblastoma at the 2015 American Society of Clinical Oncology in Chicago.

2 Jun 2015

MedImmune, AstraZeneca present encouraging results from new combination-focused immuno-oncology portfolio at ASCO 2015

AstraZeneca and MedImmune, the company’s global biologics research and development arm, today presented encouraging results from their novel combination-focused immuno-oncology portfolio at the American Society of Clinical Oncology (ASCO) Annual Meeting 2015.

2 Jun 2015

Intermountain Precision Genomics: Precision medicine can benefit advanced cancer patients without increasing costs

Two new studies conducted by Intermountain Healthcare’s Intermountain Precision Genomics reveal that precision medicine can improve survival in advanced cancer patients – and do so without increasing costs.

2 Jun 2015

Mutation News and Research

Merck Canada announces conditional approval of KEYTRUDA (pembrolizumab) for melanoma treatment

Researchers discover genetic mutation responsible for thoracic aortic aneurysm and dissection

Non-invasive prenatal testing for Down's syndrome acceptable to parents

Researchers reveal that 6.5% of de novo genetic mutations occur during embryonic development

Rhythm announces initiation of two setmelanotide Phase 2 trials for treatment of PWS, POMC-null obesity

New strategy involving three-pronged approach may keep lung cancer aside

Scientists make breakthrough in schizophrenia research

Scientists uncover why some people more prone to major depression

U of T researchers uncover new insights on genetic causes of ALS

Scientists produce strongest evidence yet of schizophrenia’s causes

The Lancet publishes new Seminar on MERS

Majority of breast cancer patients unaware of the effect of double mastectomy

Feinberg physiology professor named recipient of 2015 AES Seed Grant

University of Adelaide research shows genetics play vital role in the cause of cerebral palsy

UC Santa Cruz-led study offers new insights into molecular mechanisms of biological clock

National Psoriasis Foundation awards grants to support psoriatic disease research

Scientists identify gene mutation that causes color blindness

Celldex’s lead program RINTEGA demonstrates overall survival benefit in patients with recurrent glioblastoma

MedImmune, AstraZeneca present encouraging results from new combination-focused immuno-oncology portfolio at ASCO 2015

Intermountain Precision Genomics: Precision medicine can benefit advanced cancer patients without increasing costs

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News