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UMSOM researchers identify how certain gene mutations cause ALS

Researchers at the University of Maryland School of Medicine have identified how certain gene mutations cause amyotrophic lateral sclerosis, also known as Lou Gehrig's disease.

10 Jun 2020

Genetic screening could be effective at detecting undiagnosed cases of prostate cancer

Genetic screening for prostate cancer in GP surgeries could be effective at picking up otherwise undiagnosed cases of the disease, a new pilot study shows.

31 May 2020

New, previously unknown form of familial cold urticaria discovered

Skin rash combined with head and joint pain: these are the symptoms which patients with familial (hereditary) cold urticaria develop when exposed to temperatures below 15 °C.

27 Apr 2020

Study identifies three unknown genetic mechanisms that cause myopia

Three previously unknown genetic mechanisms have been discovered in causing myopia otherwise known as short or near-sightedness, finds a new study.

1 Apr 2020

Scientists reveal ability to reverse Huntington's disease-causing DNA repeat mutations in the lab

Neurodegenerative diseases, like Huntington's disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA of patients. Increasing repeat expansion length in the affected tissues contribute to earlier age of disease onset and worsen the progression and severity of the disease over time.

27 Feb 2020

Wayne State researchers receive grant to develop new treatments for Barth syndrome

Barth syndrome is a rare and life-threatening, X-linked genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder.

16 Feb 2020

DNA misfolding linked to heightened risk for Type 1 diabetes

It's known that genetics, or an inherited genome, is a major determinant of one's risk for autoimmune diseases, like Type 1 diabetes. In human cells, a person's genome--about six feet of DNA--is compressed into the micrometer space of the nucleus via a three-dimensional folding process.

11 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

Gut microbes in wasps help overcome pesticides

An intriguing study published in February 2020 in the journal Cell Host & Microbe reports that when wasps are exposed to atrazine, a commonly used pesticide, the gut microbiome undergoes changes that help them overcome the ill-effects of the exposure. In addition, the changes are passed on to the offspring, which means that the next generation will also inherit atrazine resistance even without being exposed to the chemical.

4 Feb 2020

Study shows safety, long-term beneficial impact of gene therapy for patients with Hemophilia A

A breakthrough gene therapy treatment for Haemophilia A has been shown to offer long-term benefits that have already transformed the lives of 13 men in the UK.

6 Jan 2020

UCLA scientists discover reason for higher rates of autoimmune disease in women than men

UCLA scientists have discovered one reason why autoimmune diseases are more prevalent in women than in men.

11 Dec 2019

Genetic testing results help woman to make decisions about her treatment and preventive care

Wendy Richardson, 52, of Ridgefield, Connecticut, has always been aware that she has a strong family history of cancer.

3 Dec 2019

Inbreeding between royalty led to facial defects

The royal dynasty that ruled huge Spanish and Austrian territories over the last century was called the Habsburgs and were famous for more than their imperial majesty. The “Habsburg jaw”, a facial condition that afflicted these kings and queens, was well known. Now a new study says that this facial dysmorphism was due to inbreeding. The study was published in the Annals of Human Biology.

2 Dec 2019

Gene discovery in fruit flies could provide clues to counteract mitochondrial diseases

Scientists have identified a protein in fruit flies that can be targeted to reverse the effects of disease-causing mutations in mitochondrial genes. The discovery could provide clues about how to counteract human mitochondrial diseases, for which there is currently no cure.

28 Nov 2019

Doctors place patients in suspended animation in first trial of its kind

For the first time, doctors have placed people in suspended animation in an effort to repair fatal

21 Nov 2019

Circular DNA found in cancer cells supports their survival and resistance

A new study uncovers the role of the circular, 3D shape of extrachromosomal DNA in augmenting mutant oncogenes in cancer cells.

20 Nov 2019

Children's National receives new funding to strengthen global polycystic kidney disease initiative

Lisa M. Guay-Woodford, M.D., McGehee Joyce Professor of Pediatrics at Children's National Hospital, has received a $5.7 million dollar gift to support clinical and research activities.

13 Nov 2019

Gene-editing technique CRISPR trialed for first time as cancer treatment

The go-ahead has been given for the first trials using CRISPR as an alternative therapy for treating cancer.

6 Nov 2019

Researchers find genes from 'fossil' virus in human DNA to be active

Genes from a virus that was stitched into the human genome thousands of years ago are active, producing proteins in the human brain and other tissues, according to researchers at the University of Washington School of Medicine and the Laval University School of Medicine in Quebec, Canada.

5 Nov 2019

Three-drug combination improves lung function, reduces symptoms in CF patients

A phase three clinical trial that UT Southwestern participated in determined that a three-drug combination improved lung function and reduced symptoms in cystic fibrosis patients who have a single copy of the most common genetic mutation for the disease.

31 Oct 2019