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Regenerative medicine scientist receives $1.3 million to study stem cell therapy for liver failure

Currently, the only therapy for metabolic liver disease is an organ transplant. Tracy Grikscheit, MD, an attending physician and regenerative medicine scientist at Children's Hospital Los Angeles, hopes to change that reality.

7 Nov 2018

New discovery confirms central importance of PINK1-Parkin pathway in Parkinson's patients

Researchers at the Faculty of Medicine, University of Helsinki, make an unexpected and vital contribution to an international collaborative effort in Parkinson's disease research.

7 Nov 2018

Mutant p53 protein 'tackles' DNA guardian to drive tumor development

Melbourne scientists have discovered how tumor development is driven by mutations in the most important gene in preventing cancer, p53.

7 Nov 2018

Tracking down microRNA candidates linked to disease

What started as Ninad Oak's side project turned out into something much larger, his doctorate thesis. "The project started as my qualifying exam that I proposed at the end of my first year of graduate school," said Oak, a graduate student in molecular and human genetics in Dr. Sharon E. Plon's lab. "This was an off topic qualifying exam at the time, meaning the lab had not worked on this topic before."

7 Nov 2018

U.S. Department of Defense grants 'Impact Award' to explore therapeutic options against advanced prostate cancer

The U.S. Department of Defense has granted the "Impact Award" to explore new therapeutic options against advanced prostate cancer - scientifically known as castration-resistant or hormone therapy resistant prostate cancer- to a multidisciplinary team of researchers made up of the Prostate Cancer Clinical Research Unit of the Spanish National Cancer Research Center, led by David Olmos, the Prostate Cancer Translational Research Group of the Vall d'Hebron Institute of Oncology, led by Joaquín Mateo, and the Genetics and Solid Tumors Laboratory of the University of Washington, led by Colin Pritchard.

7 Nov 2018

Study identifies novel missense mutation affecting YARS causes multisystem disease

Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals.

7 Nov 2018

Geneticists decipher new gene responsible for rare form of hair loss

Hypotrichosis simplex leads to progressive hair loss already in childhood. A team of researchers led by human geneticists at the University Hospital of Bonn has now deciphered a new gene that is responsible for this rare form of hair loss.

6 Nov 2018

Study offers new hope to patients with rare brain cancer

sGBM is a rare type of brain cancer in adults. The incidence varies from 2 to 5 per million people per year. For example, if Hong Kong's base population of 7.5 million people is taken as a reference, over 15 people will be diagnosed with sGBM tumors annually.

2 Nov 2018

C-Path, CHDI and CDISC announce availability of Huntington's Disease Therapeutic Area User Guide

The Huntington's Disease Regulatory Science Consortium, launched in March 2018 by the Critical Path Institute and CHDI Foundation, today, along with the Clinical Data Interchange Standards Consortium, announce the open availability of a newly developed Huntington's Disease Therapeutic Area User Guide

2 Nov 2018

CNIO researchers link MASTL protein to origin of thrombocytopenia

The Cell Division and Cancer Group of the Spanish National Cancer Research Centre has discovered that MASTL, the protein whose function in the organism has not yet been sufficiently investigated, plays an important role in controlling the cytoskeleton, the structure that gives shape to the cells, and enables their mobility and capacity for grouping.

1 Nov 2018

Unraveling a rare genetic mutation related to growth disorders

What would happen if you suddenly stopped growing at age 12 or 13? Solving genetic growth mysteries and scheduling regular appointments with pediatric endocrinologists is atypical for most parents and pediatricians.

1 Nov 2018

NIH funding will allow four pediatric health systems to study causes of growth disorders

The National Institutes of Health awards Andrew Dauber, M.D., MMSc, the chief of endocrinology at Children's National Health System, a five-year grant that will allow four pediatric health systems to compile and study clinical and genetic markers of severe pediatric growth disorders.

31 Oct 2018

Scientists identify 'skeleton key' for congenital kidney disease research

Scientists in Japan have found a 'skeleton key' for congenital kidney disease research. Using iPS cells generated from the skin cells of a patient with a nephrin mutation, Kumamoto University scientists have successfully developed kidney tissue that exhibits the early stages of congenital kidney disease.

31 Oct 2018

Genetic defect linked to ALS causes sugar-starved cells to overproduce lipids

A genetic defect tied to a variety of neurodegenerative diseases and mental illnesses changes how cells starved of sugar metabolize fatty compounds known as lipids, a new study led by researchers from the Johns Hopkins Bloomberg School of Public Health shows.

31 Oct 2018

New ddPCR technology helps detect, quantify TERT promoter mutations linked to many cancer types

A recent study published online in the Journal of Molecular Diagnostics demonstrated that Droplet Digital PCR technology can be used to detect mutations in a region of our DNA that is linked to many cancer types, paving the way for the development of new cancer diagnostics and therapies.

31 Oct 2018

Scientists pinpoint TIM-3 protein as next potential target for immunotherapy treatments

Following the 2018 Nobel Prize for Medicine, global attention is now more than ever turned toward the promise of immunotherapy in oncology. An international team’s work has shed new light on a molecule called TIM-3 that might play a key role in the regulation of the immune response.

31 Oct 2018

Using genome editing to prevent sudden cardiac death

Each year, at least 3 million people worldwide die of sudden cardiac death. In the U.S., this number reaches up to 450,000 people.

30 Oct 2018

DIACARTA introduces new QClamp assays for detection of cancer gene mutations

DIACARTA Inc., a precision molecular diagnostics company headquartered in Richmond, California, today announced that it is launching a new suite of CE-IVD marked highly sensitive hydrolysis probe based QClamp assays for detection of common cancer mutations in genes, such as KRAS, NRAS, BRAF, EGFR, PIK3CA and JAK2, using tissue biopsyand liquid biopsy samples.

29 Oct 2018

New method allows detection of direct biomolecule interactions

Proteins are the building blocks of the cell. They do most of the work and are essential for the structure, function and dynamic regulation of the cell and body's tissues and organs.

26 Oct 2018

Study provides complete picture of genetic breast cancer susceptibility among pediatric cancer survivors

St. Jude Children's Research Hospital researchers have evidence that common genetic variations can help to identify pediatric cancer survivors who are at increased risk for developing breast cancer while relatively young. The findings appear today in the journal Clinical Cancer Research.

26 Oct 2018

Mutation News and Research

Regenerative medicine scientist receives $1.3 million to study stem cell therapy for liver failure

New discovery confirms central importance of PINK1-Parkin pathway in Parkinson's patients

Mutant p53 protein 'tackles' DNA guardian to drive tumor development

Tracking down microRNA candidates linked to disease

U.S. Department of Defense grants 'Impact Award' to explore therapeutic options against advanced prostate cancer

Study identifies novel missense mutation affecting YARS causes multisystem disease

Geneticists decipher new gene responsible for rare form of hair loss

Study offers new hope to patients with rare brain cancer

C-Path, CHDI and CDISC announce availability of Huntington's Disease Therapeutic Area User Guide

CNIO researchers link MASTL protein to origin of thrombocytopenia

Unraveling a rare genetic mutation related to growth disorders

NIH funding will allow four pediatric health systems to study causes of growth disorders

Scientists identify 'skeleton key' for congenital kidney disease research

Genetic defect linked to ALS causes sugar-starved cells to overproduce lipids

New ddPCR technology helps detect, quantify TERT promoter mutations linked to many cancer types

Scientists pinpoint TIM-3 protein as next potential target for immunotherapy treatments

Using genome editing to prevent sudden cardiac death

DIACARTA introduces new QClamp assays for detection of cancer gene mutations

New method allows detection of direct biomolecule interactions

Study provides complete picture of genetic breast cancer susceptibility among pediatric cancer survivors

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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