Mutation News and Research

RSS

Research offers new understanding about cause of Parkinson's disease

Until very recently, Parkinson's had been thought a disease that starts in the brain, destroying motion centers and resulting in tremors and loss of movement.

21 Mar 2018

Discovery of new ALS gene points to cytoskeleton as potential target for drug development

An international team of researchers led by John Landers, PhD, at UMass Medical School, and Bryan Traynor, MD, PhD, at the National Institute on Aging at the National Institutes of Health, has identified KIF5A as a new gene associated with the development of amyotrophic lateral sclerosis.

21 Mar 2018

Researchers discover 'missing mutation' in severe infant epilepsy

Researchers have discovered a "missing mutation" in severe infant epilepsy--long-suspected genetic changes that might trigger overactive, brain-damaging electrical signaling leading to seizures.

20 Mar 2018

Scientists uncover new answers to cell aging in children with rare, fatal disease

In a recent paper published in Cell Reports, Saint Louis University researchers have uncovered new answers about why cells rapidly age in children with a rare and fatal disease.

20 Mar 2018

Researchers show how two cancer genes work together to trigger leukemia

An international group of researchers led by Prof. Jan Cools of the VIB-KU Leuven Center for Cancer Biology have made a breakthrough in understanding the development of acute lymphoblastic leukemia, an aggressive cancer of the blood.

20 Mar 2018

Younger siblings of SIDS victims have four-fold increased risk of sudden death

Siblings of cot death victims have a four-fold higher risk of cot death, according to research presented today at EHRA 2018, a European Society of Cardiology congress.

19 Mar 2018

Viagra cuts colorectal cancer risk in animal model

A small, daily dose of Viagra significantly reduces colorectal cancer risk in an animal model that is genetically predetermined to have the third leading cause of cancer death, scientists report.

19 Mar 2018

Obesity linked to increased DNA damage in breast epithelium of BRCA mutation carriers

Being obese or having a higher body mass index while carrying a BRCA (BReast CAncer gene) mutation is positively linked with higher levels of damage to the DNA in normal breast gland cells, new research suggests.

19 Mar 2018

Researchers team up to improve life for children with microcephaly

Audrey Alves had just turned 2 when she first visited the Virginia Tech Carilion Research Institute Neuromotor Research Clinic a year ago. Unlike most toddlers her age, she struggled to sit, crawl, and communicate.

16 Mar 2018

Researchers uncover link between Parkinson’s disease mutations and plaque formation in the brain

Working with lab-grown human brain cells, Johns Hopkins researchers report they have uncovered a much sought-after connection between one of the most common genetic mutations in Parkinson's disease and the formation of fatty plaques in the brain thought to contribute to the destruction of motor neurons that characterize the disease.

15 Mar 2018

Ludwig researchers extend potential for personalized immunotherapy to ovarian cancer, other tumors

A Ludwig Cancer Research study shows that ovarian cancer, which has proved resistant to currently available immunotherapies, could be susceptible to personalized immunotherapy.

15 Mar 2018

Researchers identify novel gene involved in familial breast cancer

An international research consortium led by Dr Jordi Surrallés, director of the Genetics Service at the Hospital de Sant Pau and professor of Genetics at the UAB, and by Dr Miquel Àngel Pujana, director of the ProCURE Research Programme of the Catalan Institute of Oncology, has identified a novel gene involved in this type of cancer, known as EDC4.

14 Mar 2018

New guidelines intend to provide template for optimal, most up-to-date DMD care

Diagnostic and treatment advances are helping patients with Duchenne muscular dystrophy - one of nine major types of muscular dystrophy that affects males - live into their 30s and beyond, raising challenges in such areas as education, vocation, levels of independence, personal relationships, emotional health, and intimacy.

13 Mar 2018

Genetic link to insomnia found

A new study has found certain genes that predispose a person to develop insomnia or sleep problems. This was one of the largest genome wide studies undertaken on insomnia. The study led by psychiatrist Murray Stein from the University of California San Diego was published in the latest issue of the journal Molecular Psychiatry.

13 Mar 2018

Southern Research scientists target mutated protein to combat prostate cancer

Southern Research scientists are exploring how a mutated protein implicated in prostate cancer plays a role in the development of the disease and whether it holds a key to better treatment outcomes.

13 Mar 2018

Study highlights potential of ASO therapy to treat Fuchs endothelial corneal dystrophy patients

A proof-of-concept study carried out at UCL Institute of Ophthalmology with funding from Fight for Sight has highlighted the potential of a targeted antisense oligonucleotide therapy to treat Fuchs endothelial corneal dystrophy patients with a mutation in the TCF4 gene.

12 Mar 2018

Novel screening tool aids search for curative kidney treatment

Researchers have developed a screening tool for identifying compounds that restore functionality of the protein that is dysfunctional in Alport syndrome.

9 Mar 2018

Newly-discovered hereditary mutation leads to increased production of EPO in the blood

A newly-discovered hereditary mutation is responsible for an increased production of erythropoietin (EPO) in the blood.

8 Mar 2018

Study reveals key function of ALS-linked protein

The protein FUS, whose mutation or disruption causes many cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), works as a central component of one of the most important regulatory systems in cells, according to a new study in Molecular Cell from scientists at Johns Hopkins Bloomberg School of Public Health.

8 Mar 2018

Of ‘miracles’ and money: Why hemophilia drugs are so expensive

When Landon Morris was diagnosed with hemophilia shortly after birth, his mother, Jessica Morris, was devastated. "It was like having your dreams — all the dreams you imagined for your child — just kind of disappear," she recalled.

8 Mar 2018