Genetic News and Research

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UM SOM researchers reveal genetic makeup of various strains of E. coli

A multi-disciplinary group of researchers at the University of Maryland School of Medicine have for the first time determined the genetic makeup of various strains of E. coli, which every year kills hundreds of thousands of people around the world.

9 Feb 2016

TBX5 gene expression could play key role in congenital heart disease

Congenital heart disease is the most common birth defect and the leading cause of all infant deaths in the United States. Mutations in the gene TBX5 have been shown to cause both rare and more prevalent forms of congenital heart disease, yet the underlying mechanisms have remained unclear.

9 Feb 2016

Study shows association between traffic-related air pollution and dark spots on the skin

A largescale study that included women from Germany and China has demonstrated a link between levels of traffic-related air pollution and air pollution-associated gases with the formation of dark spots on the skin, known as lentigenes. The most pronounced changes were observed on the cheeks of Asian women over the age of 50.

8 Feb 2016

FDA clears Sangamo BioSciences' SB-318 IND application for treatment of MPS I

Sangamo BioSciences, Inc., the leader in therapeutic genome editing, announced that the U.S. Food and Drug Administration has cleared the Company's Investigational New Drug (IND) application for SB-318, a single treatment strategy intended to provide a life-long therapy for Mucopolysaccharidosis Type I (MPS I).

8 Feb 2016

Positive data on ability of MyoKardia’s MYK-461 to prevent development of HCM published in Science

MyoKardia, Inc., a clinical stage biopharmaceutical company pioneering a precision medicine approach for the treatment of heritable cardiovascular diseases, today announced the publication of an article in the leading medical journal Science.

8 Feb 2016

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

The London-based LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

8 Feb 2016

Scientists develop potential treatment to prevent hypertrophic cardiomyopathy

More than 15 years ago, David Warshaw, Ph.D., and coworkers discovered the precise malfunction of a specific protein in the heart that leads to hypertrophic cardiomyopathy, a common culprit in cases of sudden death in young athletes.

7 Feb 2016

Duchenne muscular dystrophy: direct effect on muscle stem cells? An interview with Dr Rudnicki

For twenty years, it has been understood that dystrophin is expressed in differentiated muscle fibers where it is part of a protein complex that crosses the membrane and connects the extracellular matrix to the actin network inside the cell to provide structural integrity.

5 Feb 2016

New method could help scientists conduct in-depth research on malignant tumors in cancer patients

Scientists at the Children's Medical Center Research Institute at UT Southwestern have pioneered a new method for conducting in-depth research on malignant tumors in patients, in the process discovering new complexities underlying cancer biology and overturning a nearly century-old perception about cancer metabolism.

5 Feb 2016

Novel non-invasive method of vagus nerve stimulation reduces depressive symptoms

Researchers of a new study published in the current issue of Biological Psychiatry report successful reduction of depressive symptoms in patients using a novel non-invasive method of vagus nerve stimulation, or VNS.

5 Feb 2016

Duke scientists reveal how gut inflammation increases colon cancer risk

Chronic inflammation in the gut increases the risk of colon cancer by as much as 500 percent, and now Duke University researchers think they know why.

5 Feb 2016

Mitochondria essential for cellular ageing

An international team of scientists has for the first time shown that mitochondria, the batteries of the cells, are essential for ageing.

5 Feb 2016

NIH researchers identify genetic mutation responsible for vibratory urticaria

Scientists at the National Institutes of Health have identified a genetic mutation responsible for a rare form of inherited hives induced by vibration, also known as vibratory urticaria. Running, hand clapping, towel drying or even taking a bumpy bus ride can cause temporary skin rashes in people with this rare disorder.

4 Feb 2016

U.S. panel endorses “three-parent” IVF technique

An expert committee have recommended that the U.S. government allows the clinical investigation of mitochondrial replacement techniques (MRT) to go ahead.

4 Feb 2016

Oncofertility complications reviewed for US patients

Three articles published in JAMA Oncology highlight the legal and clinical care issues surrounding fertility preservation in US patients with cancer.

4 Feb 2016

BMPR2 mutations affect outcomes of PAH patients

Mutations in the bone morphogenetic protein receptor type II gene affect not only the risk of developing pulmonary arterial hypertension but also the severity and outcomes of the disease, shows a meta-analysis of individual patient data.

4 Feb 2016

Duke researchers identify promising target for renal cell carcinomas

All cells need nutrients, but cancer cells are notoriously power hungry. As a result, cancer cells must alter their metabolism to provide the additional fuel needed for them to survive, grow and spread.

4 Feb 2016

AstraZeneca’s TAGRISSO (osimertinib) approved in EU for metastatic EGFR T790M mutation-positive NSCLC

AstraZeneca today announced that the European Commission (EC) has granted conditional marketing authorisation for TAGRISSO™ (AZD9291, osimertinib) 80mg once-daily tablets for the treatment of adult patients with locally advanced or metastatic epidermal growth factor receptor (EGFR) T790M mutation-positive non-small cell lung cancer (NSCLC).

4 Feb 2016

New research identifies key enzyme linked to age-related increases in cancer and inflammation

For the first time, researchers have shown that an enzyme key to regulating gene expression -- and also an oncogene when mutated -- is critical for the expression of numerous inflammatory compounds that have been implicated in age-related increases in cancer and tissue degeneration, according to new research from the Perelman School of Medicine at the University of Pennsylvania.

4 Feb 2016

Genetic variants associated with preference to mornings or nights

23andMe, Inc., the leading personal genetics company, today announced the results of a genome-wide association study (GWAS) identifying genetic variants associated with being a morning person.

3 Feb 2016

Genetic News and Research

UM SOM researchers reveal genetic makeup of various strains of E. coli

TBX5 gene expression could play key role in congenital heart disease

Study shows association between traffic-related air pollution and dark spots on the skin

FDA clears Sangamo BioSciences' SB-318 IND application for treatment of MPS I

Positive data on ability of MyoKardia’s MYK-461 to prevent development of HCM published in Science

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

Scientists develop potential treatment to prevent hypertrophic cardiomyopathy

Duchenne muscular dystrophy: direct effect on muscle stem cells? An interview with Dr Rudnicki

New method could help scientists conduct in-depth research on malignant tumors in cancer patients

Novel non-invasive method of vagus nerve stimulation reduces depressive symptoms

Duke scientists reveal how gut inflammation increases colon cancer risk

Mitochondria essential for cellular ageing

NIH researchers identify genetic mutation responsible for vibratory urticaria

U.S. panel endorses “three-parent” IVF technique

Oncofertility complications reviewed for US patients

BMPR2 mutations affect outcomes of PAH patients

Duke researchers identify promising target for renal cell carcinomas

AstraZeneca’s TAGRISSO (osimertinib) approved in EU for metastatic EGFR T790M mutation-positive NSCLC

New research identifies key enzyme linked to age-related increases in cancer and inflammation

Genetic variants associated with preference to mornings or nights

eBook: Using iPSCs models for human disease research and drug discovery eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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