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Adults with congenital blindness experience striking recoveries of night vision after gene therapy

Adults with a genetic form of childhood-onset blindness experienced striking recoveries of night vision within days of receiving an experimental gene therapy, according to researchers at the Scheie Eye Institute in the Perelman School of Medicine at the University of Pennsylvania.

11 Oct 2022

Research identifies the main gene that causes developmental disability syndrome

A single gene that was previously discovered to be the main factor in a rare disease associated with epilepsy, autism, and developmental delay has been named as a key player in the development of healthy neurons.

1 Jul 2022

Study shows how gene related to Nascimento Syndrome activates the cell response to stress

According to a Duke University study, a gene linked to severe learning disabilities in humans also plays a critical role in cells’ response to environmental stress.

31 May 2022

New project receives over $700,000 to study about CHARGE syndrome

CHARGE syndrome, which affects approximately one in 10,000 newborns worldwide, is associated with neurological and behavioral conditions like intellectual disability, attention deficit disorder, convulsions, and autism.

1 Apr 2022

A peptide could prove to be useful in stopping nerve cell degeneration

Researchers at the University of Illinois Chicago found promising results in their search for a treatment to stop nerve cell degeneration that happens in some types of disorders, such as hereditary spastic paraplegia and Parkinson's disease, which can cause significant disability.

17 Feb 2022

YME1L protein responsible for balancing the conversion of brain's neural stem cells

Researchers at the University of Cologne have discovered that the protein YME1L regulates the production of new nerve cells and the maintenance of neural stem cells in the adult brain.

16 Feb 2022

MIT researchers create a new cerebrovasculature atlas

While neurons and glial cells are by far the most numerous cells in the brain, many other types of cells play important roles. Among those are cerebrovascular cells, which form the blood vessels that deliver oxygen and other nutrients to the brain.

16 Feb 2022

Study shows the impact of dietary changes on life expectancy

Fadnes, L.T., et al. (2022) Estimating impact of food choices on life expectancy: A modeling study. PLOS Medicine. doi.org/10.1371/journal.pmed.1003889.

10 Feb 2022

Scientists use genetically informed brain atlases to identify hundreds of genomic loci

An international team of scientists has used atlases of the human brain informed by genetics to identify hundreds of genomic loci. Loci is plural for locus, and in genetics indicates the physical location of a gene or variant on a chromosome.

From UC San Diego 8 Feb 2022

Largest genome study identifies new genetic risk factors for migraine

An international consortium of leading migraine scientists identified more than 120 regions of the genome that are connected to risk of migraine.

4 Feb 2022

Meat eating, less gut bacteria, more immune cell subsets in the blood linked to multiple sclerosis

Eating more meat, having less of certain bacteria in the gut, and more of certain immune cells in the blood, all link with multiple sclerosis, reports a team of researchers led by UConn Health and Washington University School of Medicine.

27 Jan 2022

Columbia researchers develop new blood test to measure the pace of biological aging

Researchers at Columbia University Mailman School of Public Health have developed a new blood test to measure the pace of biological aging. Based on an analysis of chemical tags on the DNA contained in white blood cells, called DNA methylation marks, the new test is named DunedinPACE, after the Dunedin Birth Cohort used to develop it.

19 Jan 2022

Study employs gene reactivation to treat Fragile X syndrome

Fragile X syndrome, or FXS—a principal genetic cause of autism—impacts around one in 6,000 females and one in 4,000 males.

17 Dec 2021

Adults with rare genetic changes have poorer health, says study

According to a study, grown-ups with certain genetic causes of mental health and other brain disorders had substantially increased rates of chronic disease.

17 Dec 2021

De Novo Mutations may Play a Role in Male Infertility

In this interview, we speak to Dr. Miguel J. Xavier about his latest research into male infertility and how de novo mutations may play a part.

From Newcastle University 19 Nov 2021

Study identifies genes involved in people with osteoarthritis

The major cause of pain and disability globally is osteoarthritis.

1 Nov 2021

Researchers identify the mechanism leading to deafness in Norrie disease

A team of Mass Eye and Ear Scientists led by Albert Edge, PhD, working with research fellow Yushi Hayashi, MD, PhD, has identified the mechanism that can lead to deafness in the rare syndrome, Norrie disease.

6 Oct 2021

Naturally occurring protein that blocks inflammatory response linked to better stroke recovery in mice

A naturally occurring protein that blocks an inflammatory immune response was associated with better stroke recovery in a study conducted in mice, according to preliminary research to be presented at the American Heart Association's Vascular Discovery: From Genes to Medicine Scientific Sessions 2021.

23 Sep 2021

Researchers reverse Kleefstra syndrome after birth in a mouse model

Scientists announced the reversal of Kleefstra syndrome—a genetic disorder leading to intellectual disability.