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Scientists uncover new gene therapy treatment routes for motor neurone disease

Scientists investigating the genetic causes and altered functioning of nerve cells in motor neurone disease (MND) have discovered a new mechanism that could lead to fresh treatment approaches for one of the most common forms of the disease.

14 Jul 2017

Researchers study molecular mechanisms responsible for Alzheimer's disease

Members of the Faculty of Fundamental Medicine at the Lomonosov Moscow State University have determined the structure of a peptide complex, formed in the brain at the early stages of Alzheimer's disease progression.

14 Jul 2017

Researchers detect new gene mutation linked to Fanconi anemia

Fanconi anemia is a rare genetic disease characterized by bone marrow failure heralded by low platelet counts and unusually large red blood cells.

14 Jul 2017

Cancer metastases may originate from primary tumor without involving lymph system

Research by several leading scientists including Rakesh Jain, PhD, Director of the Edwin L. Steele Laboratory for Tumor Biology at the Massachusetts General Hospital and supported in part by the National Foundation for Cancer Research, has provided the first evidence that the century-old model for cancer metastasis - where cancer spreads from primary tumor to nearby lymph nodes, and then to other organs - may not apply in all cases.

13 Jul 2017

Experts develop first freely available data network for Huntington's disease research

Huntington's disease is a hereditary disorder of the nervous system caused by a faulty gene on chromosome four.

13 Jul 2017

Researchers identify common genetic factors that influence muscle strength

Common genetic factors that influence muscle strength in humans have been identified for the first time in a study led by researchers from the University of Cambridge and published today in Nature Communications.

12 Jul 2017

ERYTECH partners with Queen’s University to advance its product candidate for treating arginase-1 deficiency

ERYTECH Pharma, a French clinical-stage biopharmaceutical company developing innovative therapies for rare forms of cancer and orphan diseases, today announced that it has entered into a research collaboration with Queen's University in Canada to advance the preclinical development of ERYTECH's eryminase program specifically for the treatment of arginase-1 deficiency, a rare and severe metabolic disorder related to arginine metabolism.

12 Jul 2017

Study links heart failure biomarker to tumors observed in rare genetic diseases

Galectin-3, a protein that promotes cancer cell growth and is used as a biomarker for heart failure, has been linked to tumors observed in two rare genetic diseases, according to a study published July 11, 2017, in eLife.

11 Jul 2017

Scientists develop simple test for early, accurate warning of returning bladder cancer

Scientists have devised a simple test for an earlier and more accurate warning of returning bladder cancer than existing methods, according to research published in the British Journal of Cancer today (Friday).

7 Jul 2017

Nanolock-nanopore detects cancer driver mutations to facilitate early diagnosis, treatment

The moment when healthy cells turn into cancer cells is a critical point. And if caught early enough, many cancers can be stopped in their tracks.

7 Jul 2017

Sialic acid found in animals protects farm children from asthma

It is a known fact that microbes on farms protect children from asthma and allergies. But even non-microbial molecules can have a protective effect: Immunologists from the University of Zurich have shown that a sialic acid found in farm animals is effective against inflammation of lung tissue.

6 Jul 2017

Dmrta2 gene mutation can lead to abnormal brain development in unborn babies

Researchers from Cardiff University and Université Libre de Bruxelles have identified how the function of a key gene significantly impacts nerve stem cell growth, and how it can lead to abnormal brain development in unborn babies if the system goes awry.

6 Jul 2017

New research offers crucial step towards understanding cause of myopathy

Pioneering research using the tropical zebrafish could provide new insights into the genetic basis of myopathy, a type of human muscle disease.

6 Jul 2017

Discovery could impact understanding, treatment of autoimmune and inflammatory diseases

Scientists from the Research Institute of the McGill University Health Centre may have cracked the code to understanding the function of special cells called regulatory T Cells.

5 Jul 2017

First systematic genomic analysis of patients with T-ALL may aid development of new therapies

A consortium including St. Jude Children's Research Hospital and the Children's Oncology Group has performed an unprecedented genomic sequencing analysis of hundreds of patients with T-lineage acute lymphoblastic leukemia (T-ALL).

4 Jul 2017

Study opens new range of therapeutic options for patients with atypical Rett syndrome

A translational, multicenter study carried out by research groups of the Bellvitge Biomedical Research Institute, San Juan de Dios Hospital, the University of Barcelona, Clinic Hospital, the University of Vic, Santa Creu i Sant Pau Hospital and the thematic area of Rare Diseases, has unveiled the potential of D-serine -- a dietary supplement -- to improve the neuronal function of a patient with a mutation of the glutamate receptors associated to atypical Rett syndrome with severe encephalopathy.

4 Jul 2017

NEI-funded research aims to prevent or reverse progression of cataracts

Research funded by the National Eye Institute aims to reverse progression of cataracts- the most common cause of blindness worldwide- or to prevent them from forming altogether.

30 Jun 2017

Timing of mutations can have effect on health and disease

A single genetic mutation can lead to completely different diseases, depending on the time and location at which the mutation occurs.

30 Jun 2017

Liquid biopsies provide more information about disease course in non-invasive manner

A new study, to be presented at the ESMO 19th World Congress on Gastrointestinal Cancer, shows that so-called "liquid biopsies", blood tests that detect circulating tumour DNA (ctDNA), may not only sound an early alert that a treatment's effect is diminishing, but may also help explain why -sometimes offering clues about what to do next.

30 Jun 2017

Safe under the ACA, patients with preexisting conditions now fear bias

Cheasanee Huette, a 20-year-old college student in Northern California, is worried. Two years ago, knowing she was protected by the Affordable Care Act's guarantees of coverage for preexisting conditions, she decided to find out if she carried the same genetic mutation that eventually killed her mother.

29 Jun 2017

Mutation News and Research

Scientists uncover new gene therapy treatment routes for motor neurone disease

Researchers study molecular mechanisms responsible for Alzheimer's disease

Researchers detect new gene mutation linked to Fanconi anemia

Cancer metastases may originate from primary tumor without involving lymph system

Experts develop first freely available data network for Huntington's disease research

Researchers identify common genetic factors that influence muscle strength

ERYTECH partners with Queen’s University to advance its product candidate for treating arginase-1 deficiency

Study links heart failure biomarker to tumors observed in rare genetic diseases

Scientists develop simple test for early, accurate warning of returning bladder cancer

Nanolock-nanopore detects cancer driver mutations to facilitate early diagnosis, treatment

Sialic acid found in animals protects farm children from asthma

Dmrta2 gene mutation can lead to abnormal brain development in unborn babies

New research offers crucial step towards understanding cause of myopathy

Discovery could impact understanding, treatment of autoimmune and inflammatory diseases

First systematic genomic analysis of patients with T-ALL may aid development of new therapies

Study opens new range of therapeutic options for patients with atypical Rett syndrome

NEI-funded research aims to prevent or reverse progression of cataracts

Timing of mutations can have effect on health and disease

Liquid biopsies provide more information about disease course in non-invasive manner

Safe under the ACA, patients with preexisting conditions now fear bias

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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