Disability News and Research

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Dysfunctional placenta can contribute to Cornelia de Lange syndrome

Dysfunctional placenta can contribute to Cornelia de Lange syndrome

Researchers have demonstrated that a dysfunctional placenta can play a formerly unknown role during the earliest phases of development in Cornelia de Lange.

17 Jun 2020

gnomAD Consortium releases first set of discoveries on human genetic variation

gnomAD Consortium releases first set of discoveries on human genetic variation

For the last eight years, the Genome Aggregation Database Consortium (and its predecessor, the Exome Aggregation Consortium, or ExAC), has been working with geneticists around the world to compile and study more than 125,000 exomes and 15,000 whole genomes from populations around the world.

29 May 2020

Inflammatory cells arise from local memory cells in people with long-term multiple sclerosis

Inflammatory cells arise from local memory cells in people with long-term multiple sclerosis

In the brains of people that suffer from long-term multiple sclerosis (MS), inflammatory cells are not entering the brain via the bloodstream anymore.

15 May 2020

Is There a Link Between Diet and Education?

Is There a Link Between Diet and Education?

Is there a link between diet and education? AZoLifeSciences speaks to Dr. Holly Rippen to find out more and what we can do to help.

From World Health Organization (WHO) 14 May 2020

Excess alcohol consumption can increase risk of stroke, peripheral artery disease

Excess alcohol consumption can increase risk of stroke, peripheral artery disease

Higher alcohol consumption was shown to be associated with an increased risk of having a stroke or developing peripheral artery disease, according to new research published today in Circulation: Genomic and Precision Medicine, an American Heart Association journal.

5 May 2020

Nanostimulators Boost Stem Cells For Muscle Repair

Nanostimulators Boost Stem Cells For Muscle Repair

In medicine, a treatment for patients whose muscles are damaged from lack of oxygen would be to invigorate them with an injection of their own stem cells.

4 May 2020

How human cells recognize undesirable guests

How human cells recognize undesirable guests

Until now, the immune sensor TLR8 has remained in the shadows of science. A research team led by the University of Bonn has now discovered how this sensor plays an important role in defending human cells against intruders.

15 Apr 2020

Study finds impact of specific gene on neurodevelopment, causing ASD and macrocephaly

Study finds impact of specific gene on neurodevelopment, causing ASD and macrocephaly

During the developmental phase of brains, a number of moving parts occur—and if mutations occur during the early neurodevelopment, it can result in disorders such as autism and macrocephaly.

12 Mar 2020

Distinct loss-of-function variants cause shared clinical features in neuronal development disorders

Distinct loss-of-function variants cause shared clinical features in neuronal development disorders

Researchers have shown that mutations in four distinct genes that lead to Kleefstra syndrome.

20 Feb 2020

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