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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 identify potential marker for recurring HPV-positive oropharyngeal cancer

A look-back analysis of HPV infection antibodies in patients treated for oropharyngeal (mouth and throat) cancers linked to HPV infection suggests at least one of the antibodies could be useful in identifying those at risk for a recurrence of the cancer, say scientists at The Johns Hopkins University.

7 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

Incidence and severity emerging CVD risk factors may differ between genders

The incidence and severity of both traditional and emerging cardiovascular disease (CVD) risk factors as well as the response to treatment may differ between genders. In this narrative review, several emerging CVD risk factors (i.e. inflammatory and haemostatic markers, endothelial dysfunction, homocysteine, lipid disorders, microalbuminuria/proteinuria, coronary artery calcium score, arterial stiffness, periodontitis, inflammatory bowel syndrome, obstructive sleep apnea, impaired glucose metabolism, metabolic syndrome and non-alcoholic fatty liver disease) are discussed in the context of gender differences.

5 Feb 2016

ONCOblot test shows promise in early detection of malignant mesothelioma

MorNuCo Laboratories of West Lafayette, Indiana, and their ONCOblot Test recently completed a retrospective clinical trial focusing on the early detection of malignant mesothelioma, with the exciting results that the ONCOblot test detected a molecular marker that is indicative of the presence of mesothelioma, 4-10 years in advance of clinical symptoms appearing.

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

Rockefeller University study shows how herpes virus causes traffic jam in immune system pathway

With over half the U.S. population infected, most people are familiar with the pesky cold sore outbreaks caused by the herpes virus. The virus outsmarts the immune system by interfering with the process that normally allows immune cells to recognize and destroy foreign invaders. How exactly the herpes simplex 1 virus pulls off its nifty scheme has long been elusive to scientists.

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

Study finding could shed light on molecular mechanisms underlying Huntington's disease

Researchers at the University of Pittsburgh School of Medicine have shown that the core of the protein clumps found in the brains of people with Huntington's disease have a distinctive structure, a finding that could shed light on the molecular mechanisms underlying the neurodegenerative disorder.

4 Feb 2016

New biosensor test system developed for accurate measurements of protein molecule concentration in blood

Researchers from the General Physics Institute of the Russian Academy of Sciences and Moscow Institute of Physics and Technology have developed a new biosensor test system based on magnetic nanoparticles.

4 Feb 2016

Screening of protein-based pharmaceuticals, free webinar

PANalytical, the world’s leading supplier of analytical instrumentation and software for X-ray and related techniques, announces their free webinar on The power of powder - Screening of protein-based pharmaceuticals on 18 February 2016, presented by Irene Margiolaki, assistant professor at the Department of Biology of the University of Patras, Greece and Detlef Beckers, Lead Scientist XRD, PANalytical B.V., The Netherlands

3 Feb 2016

Seafood consumption may benefit older adults at risk for Alzheimer's disease

New research published Feb. 2 in the Journal of the American Medical Association found that older adults with a major risk gene for Alzheimer's disease known as APOE?4 who ate at least one seafood serving per week showed fewer signs of Alzheimer's-related brain changes. In contrast, this association was not found in the brains of volunteers who ate fish weekly but did not carry the risk gene.

3 Feb 2016

Small minority of cancer cells contribute to growth and metastasis of tumours

New research shows that a small minority of cancer cells in neuroendocrine tumours of the pancreas contribute to the overall growth and metastasis of the tumour. This discovery was made by a research group at Lund University, in collaboration with researchers at Karolinska Institutet, in Sweden.

3 Feb 2016

Height affects risk of major non-communicable diseases

Height is largely genetically determined, but in recent decades the height of children and adults has steadily increased throughout the world: In adulthood the children are almost always significantly taller than their parents.

3 Feb 2016

Study sheds light on mechanisms linked to formation of healthy egg cells in humans

Congenital disorders such as Down's syndrome could be better understood, following new insights into how healthy cells are formed.

3 Feb 2016

New gene cut-and-paste methods help correct disease-causing mutation in animal model

For the first time, researchers have treated an animal model of a genetic disorder using a viral vector to deliver genome-editing components in which the disease- causing mutation has been corrected.

3 Feb 2016

UAB research explores neurofibromatosis type 1

It is easy to tell a medical research story that has a simple and dramatic moment. But disease is often much more complex, and the work to understand it can be painstaking. A vivid example of that is seen in the University of Alabama at Birmingham Medical Genomics Laboratory, headed by Ludwine Messiaen, Ph.D., professor of genetics. This lab offers clinical genetic testing for a broad array of common and rare genetic disorders.

3 Feb 2016

MYB-QKI fusion gene that drives pediatric low-grade gliomas poses a triple threat

Oncology researchers have discovered that an abnormal fused gene that drives pediatric brain tumors poses a triple threat, operating simultaneously through three distinct biological mechanisms—the first such example in cancer biology.

2 Feb 2016

Saliva gland test may help diagnose early Parkinson's disease

Researchers from Mayo Clinic in Arizona and Banner Sun Health Research Institute have determined that testing a portion of a person's submandibular gland may be a way to diagnose early Parkinson's disease. The study was published this month in Movement Disorders, the official journal of the International Parkinson and Movement Disorders Society.

2 Feb 2016

G Protein News and Research

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

Scientists identify potential marker for recurring HPV-positive oropharyngeal cancer

Scientists develop potential treatment to prevent hypertrophic cardiomyopathy

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

Incidence and severity emerging CVD risk factors may differ between genders

ONCOblot test shows promise in early detection of malignant mesothelioma

NIH researchers identify genetic mutation responsible for vibratory urticaria

Rockefeller University study shows how herpes virus causes traffic jam in immune system pathway

BMPR2 mutations affect outcomes of PAH patients

Study finding could shed light on molecular mechanisms underlying Huntington's disease

New biosensor test system developed for accurate measurements of protein molecule concentration in blood

Screening of protein-based pharmaceuticals, free webinar

Seafood consumption may benefit older adults at risk for Alzheimer's disease

Small minority of cancer cells contribute to growth and metastasis of tumours

Height affects risk of major non-communicable diseases

Study sheds light on mechanisms linked to formation of healthy egg cells in humans

New gene cut-and-paste methods help correct disease-causing mutation in animal model

UAB research explores neurofibromatosis type 1

MYB-QKI fusion gene that drives pediatric low-grade gliomas poses a triple threat

Saliva gland test may help diagnose early Parkinson's disease

How ELRIG Is Helping Mid-Career Scientists Navigate Leadership, Career Change and Redundancy

The role of UV-Vis in biopharma QC

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