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Study reveals molecular pathogenesis of muscular dystrophy-associated cardiomyopathy

In a study recently published in Nature Communications scientists at Okayama University describe the detailed molecular pathogenesis of muscular dystrophy-associated cardiomyopathy in mice lacking the fukutin gene (Fktn), the causative gene for Fukuyama muscular dystrophy.

13 Feb 2020

Light-activated protein restores mitochondrion function in fruit fly model of Parkinson’s disease

A light-sensitive protein can restore mitochondria function in fruit flies bearing a gene mutation associated with Parkinson’s disease and relieve its symptoms, report researchers at Juntendo University in the journal Communications Biology.

13 Feb 2020

Minigenes produced by CRISPR combat liver disease in mice

A new gene-editing technique based on CRISPR was used to successfully avoid the development of a liver disease that can be caused by hundreds of mutations, as well as to ease the symptoms in mice. This proof-of-concept study was published online in the journal Science Advances in February 2020.

12 Feb 2020

Study reveals new role for gene associated with autism spectrum disorder

A UCLA-led study reveals a new role for a gene that's associated with autism spectrum disorder, intellectual disability and language impairment.

12 Feb 2020

Pioneering project on genomic edition through CRISPR/Cas9 to study early embryonic development

Characterization studies of early embryonic development are limited, mainly due to the lack of samples and the obvious legal and ethical limitations.

11 Feb 2020

Finding the origins of angiosarcoma

In a new study published in the journal Nature Medicine on February 2020, scientists report some newly discovered reasons for the occurrence of a rare blood vessel wall cancer called angiosarcoma. This could one day help develop better therapies for this aggressive tumor. The project is a striking example of unexpectedly rich findings from a crowd-sourced venture that brings together a scattered group of patients with a rare disease.

10 Feb 2020

Clinical trial of two investigational drugs for rare, inherited Alzheimer's yields disappointing results

An international clinical trial evaluating whether two investigational drugs can slow memory loss and cognitive decline in people in the early stages of a rare, inherited form of Alzheimer's disease has yielded disappointing results, an initial analysis of the data has shown.

10 Feb 2020

Understanding the genetic background of idiopathic ketotic hypoglycemia

Lisa is two years old. She often gets uneasy--shaking and sweating--especially in the morning. She vomits and refuses to eat. Her mother, Karoline, knows she has to act before Lisa starts to deteriorate.

9 Feb 2020

Powerful vaccine could boost the effectiveness of cancer immunotherapy

Supercharging the mutation rate in cancer cells can create a powerful vaccine that is able to boost the effectiveness of immunotherapy, a major new study reports.

9 Feb 2020

New gene therapy improves vision in blind mice

Mice born blind have shown significant improvement in vision after undergoing a new gene therapy developed by a team of Japanese scientists.

7 Feb 2020

Largest genome study sheds light on how genetic glitches trigger tumor formation

It is well-known that when a gene mutates, it triggers tumor formation by stimulating abnormal cell growth and proliferation. Cancer starts from a mutant gene that kickstarts a series of abnormal growth, forming a tumor. However, the exact mechanism of how this happens remains unclear.

6 Feb 2020

Researchers compile large catalog of cancer mutations

Mutations in 38 different types of cancer have been mapped by means of whole genome analysis by an international team of researchers from, amongst others, the University of Copenhagen, Aarhus University, Aarhus University Hospital, and Rigshospitalet.

6 Feb 2020

Researchers study how structural variations in the genome can lead to cancer

Structural variations in genomes can arise from deleting, amplifying, or reordering genomic segments ranging from a few thousand letters of the genetic code to whole chromosomes.

6 Feb 2020

UMass Amherst study aims to develop new test for BRCA-positive lactating moms

Breastfeeding women with a pathogenic BRCA1 or BRCA2 genetic mutation face a significant risk, even at a young age, of breast and ovarian cancer.

6 Feb 2020

Cancer mutations may arise decades before diagnosis

Researchers at EMBL's European Bioinformatics Institute and the Francis Crick Institute have analyzed the whole genomes of over 2600 tumors from 38 different cancer types to determine the chronology of genomic changes during cancer development.

5 Feb 2020

Researchers discover new genetic drivers of cancer

The discovery of genetic drivers of cancer can have critical implications for the diagnosis and treatment of cancer patients, yet genome analysis has focused primarily on only 1-2% of the whole genome - the part that contains the code for making proteins.

5 Feb 2020