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Common gene mutation may cause brain damage associated with ALS and FTD

Johns Hopkins researchers say they have discovered some of the first steps in how a very common gene mutation causes the brain damage associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

27 Aug 2015

Researchers explore better way to address the root cause of cystic fibrosis

Treatments for cystic fibrosis (CF) have added years to the lives of thousands of Americans. But they can be difficult to administer, and most don't fix the underlying cause. Scientists have now found that a small molecule, when tested in yeast, can substitute for a protein and restore a key cellular function related to those missing in people with CF and similar conditions.

27 Aug 2015

Scientists reveal how a common gene mutation in ALS and FTD disrupts normal cell function

Researchers have determined how the most common gene mutation in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) disrupts normal cell function, providing insight likely to advance efforts to develop targeted therapies for these brain diseases.

27 Aug 2015

GOSH to improve rare disease diagnosis with adoption of Congenica’s Sapientia technology

Ian was ‘a clumsy child’. He kept bumping into objects and couldn’t see well in the dark. He endured 15 years of tests and misdiagnoses during a lengthy, and sometimes traumatic, diagnostic odyssey.

26 Aug 2015

Long lasting flu vaccine using antibodies advance from TSRI and Janssen

Scientists from The Scripps Research Institute (TSRI) and the Janssen Pharmaceutical Companies of Johnson & Johnson (Janssen) have found a way to induce antibodies to fight a wide range of influenza subtypes—work that could one day eliminate the need for repeated seasonal flu shots.

26 Aug 2015

Persistent leukemia-associated genetic mutations linked to increased risk of relapse, reduced overall survival

In preliminary research, the detection of persistent leukemia-associated genetic mutations in at least 5 percent of bone marrow cells in day 30 remission samples among adult patients with acute myeloid leukemia was associated with an increased risk of relapse and reduced overall survival, according to a study in the August 25 issue of JAMA.

26 Aug 2015

Moffitt researchers discover high BRCA mutation frequency in young black women with breast cancer

Women who have inherited mutations in the BRCA1 or BRCA2 genes are more likely to develop breast cancer or ovarian cancer, especially at a younger age. Approximately 5 percent of women with breast cancer in the United States have mutations in BRCA1 or BRCA2 based on estimates in non-Hispanic white women.

26 Aug 2015

Lingering cancer-related mutations linked to increased risk of relapse, poor survival in leukemia patients

For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations - detected after initial treatment with chemotherapy - are associated with an increased risk of relapse and poor survival.

26 Aug 2015

FDA, EMA accept filing applications for Boehringer Ingelheim's afatinib to treat patients with advanced SCC of the lung

Boehringer Ingelheim today announced that both the U.S. Food and Drug Administration and the European Medicines Agency have accepted filing applications for afatinib for the treatment of patients with advanced squamous cell carcinoma (SCC) of the lung progressing after treatment with first-line chemotherapy.

26 Aug 2015

Sequenom, UC San Diego Moores Cancer Center collaborate to explore utility of liquid biopsy assay

Sequenom, Inc., a life sciences company committed to enabling healthier lives through the development of innovative products and services, today announced that it has entered into a clinical research collaboration with the University of California, San Diego Moores Cancer Center.

26 Aug 2015

Study reveals potential health risks associated with burning of incense in indoor environments

The burning of incense might need to come with a health warning. This follows the first study evaluating the health risks associated with its indoor use. The effects of incense and cigarette smoke were also compared, and made for some surprising results. The research was led by Rong Zhou of the South China University of Technology and the China Tobacco Guangdong Industrial Company in China, and is published in Springer's journal Environmental Chemistry Letters.

25 Aug 2015

Medical case report of woman with Channelopathy-associated Insensitivity to Pain Syndrome

The report, published on F1000Research and titled Neuropathic pain in a patient with congenital insensitivity to pain has just passed peer review. It concerns a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. These injuries were sustained during a painless labour, which culminated in a Caesarean section.

25 Aug 2015

Dr. Sharma receives research award from ASCO to continue study on triple-negative breast cancer

Dr. Sharma was awarded the 2015 Advanced Clinical Research Award in Breast Cancer from the American Society of Clinical Oncology to continue her research on triple-negative breast cancer.

25 Aug 2015

Researchers reveal new electrical mechanism that can control molecular switches regulating cancer cell growth

The molecular switches regulating human cell growth do a great job of replacing cells that die during the course of a lifetime. But when they misfire, life-threatening cancers can occur. Research led by scientists at The University of Texas Health Science Center at Houston (UTHealth) has revealed a new electrical mechanism that can control these switches.

25 Aug 2015

Researchers awarded $6.4 million grant to identify causes of neurodevelopmental disorders in children with CHDs

As advances in medicine are giving rise to growing numbers of children who are surviving severe heart defects, a phenomenon is emerging that is catching parents and healthcare providers off-guard. Over half of these children also have a seemingly unrelated disability: neurodevelopmental disorders. Some have severe cognitive and motor deficits that arise early.

25 Aug 2015

Veritas Genetics obtains CE mark approval for myBRCA genetic screening test

Boston-based Veritas Genetics, a pioneer in accessible genetic screening for disease prevention and early detection, received its first European CE mark approval for the company's hereditary breast and ovarian cancer genetic screening test, myBRCA. Veritas introduced myBRCA, which sequences BRCA1 and BRCA2 genes using proprietary gene-targeting technology and Next Generation Sequencing, in North America in May 2015.

25 Aug 2015

TSRI, Janssen collaborate to find universal flu vaccine

Scientists from The Scripps Research Institute and the Janssen Pharmaceutical Companies of Johnson & Johnson have found a way to induce antibodies to fight a wide range of influenza subtypes—work that could one day eliminate the need for repeated seasonal flu shots.

24 Aug 2015

Understanding the causes of sudden death in epilepsy: an interview with Professor Sanjay Sisodiya

SUDEP is the sudden unexpected witnessed or unwitnessed, non-traumatic and non-drowning death in people with epilepsy, with or without evidence of a seizure. It doesn’t necessarily have to be in the known context of a seizure, excluding documented status epilepticus, where people have seizure after seizure.

24 Aug 2015

HPPI commences enrollment for Phase II(b) SCORING clinical trial for cancer treatment

HedgePath Pharmaceuticals, Inc., a clinical stage biopharmaceutical company that discovers, develops and plans to commercialize innovative therapeutics for patients with cancer, announced today enrollment has commenced in its Phase II(b) SCORING (SUBA-Cap Objective Response in Gorlin's) clinical trial.

23 Aug 2015

IQWiG dossier assessment finds added benefit of afatinib in patients with certain mutations

Afatinib (trade name: Giotrif) has been approved since September 2013 for the treatment of adult patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) with activating EGF receptor mutations who have not been treated with an EGF receptor tyrosine-kinase inhibitor (EGFR TKI).

21 Aug 2015

Mutation News and Research

Common gene mutation may cause brain damage associated with ALS and FTD

Researchers explore better way to address the root cause of cystic fibrosis

Scientists reveal how a common gene mutation in ALS and FTD disrupts normal cell function

GOSH to improve rare disease diagnosis with adoption of Congenica’s Sapientia technology

Long lasting flu vaccine using antibodies advance from TSRI and Janssen

Persistent leukemia-associated genetic mutations linked to increased risk of relapse, reduced overall survival

Moffitt researchers discover high BRCA mutation frequency in young black women with breast cancer

Lingering cancer-related mutations linked to increased risk of relapse, poor survival in leukemia patients

FDA, EMA accept filing applications for Boehringer Ingelheim's afatinib to treat patients with advanced SCC of the lung

Sequenom, UC San Diego Moores Cancer Center collaborate to explore utility of liquid biopsy assay

Study reveals potential health risks associated with burning of incense in indoor environments

Medical case report of woman with Channelopathy-associated Insensitivity to Pain Syndrome

Dr. Sharma receives research award from ASCO to continue study on triple-negative breast cancer

Researchers reveal new electrical mechanism that can control molecular switches regulating cancer cell growth

Researchers awarded $6.4 million grant to identify causes of neurodevelopmental disorders in children with CHDs

Veritas Genetics obtains CE mark approval for myBRCA genetic screening test

TSRI, Janssen collaborate to find universal flu vaccine

Understanding the causes of sudden death in epilepsy: an interview with Professor Sanjay Sisodiya

HPPI commences enrollment for Phase II(b) SCORING clinical trial for cancer treatment

IQWiG dossier assessment finds added benefit of afatinib in patients with certain mutations

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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