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Genes linked to Down syndrome abnormalities may offer protection against solid tumors

Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems.

6 Aug 2020

Researchers discover genetic cause of severe auto inflammatory syndrome

Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of--and a treatment for--a previously unknown severe auto inflam-matory syndrome affecting an 18-year-old girl since infancy.

5 Aug 2020

New tool predicts and identifies novel genes involved in various biological processes

Chromatin plays a significant role in the silencing and activation of gene transcription, and establish the fate of the cells during development.

30 Jul 2020

Researchers identify phosphoprotein biomarkers to guide cancer therapy

Precision medicine in cancer treatment uses genetic changes in the cancer cells to select the best therapies for individual patients.

29 Jul 2020

Study shows mismatched caregiver-infant interactions can increase risk of later obesity

Infancy is a sensitive developmental period that presents opportunities and challenges for caregivers to feed their infants in ways that support healthy growth and development.

14 Jul 2020

Combined antenatal therapy improves outcomes in extremely preterm babies

Tiny infants known as extremely preterm children have very low birth weights, underdeveloped organs, and risks of long-term problems or disabilities.

14 Jul 2020

Whole genome sequencing can improve rare disease diagnosis

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

25 Jun 2020

Study demonstrates the role of p53 gene in cell cycle regulation and apoptosis

The p53 gene is crucial in cell biology and thus cell replacement therapy. The function of this gene is to control the cell cycle and stop tumor formation.

2 Jun 2020

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

Study: Only 3% individuals diagnosed with autism receive recommended genetic tests

A study analyzing data from the Rhode Island Consortium for Autism Research and Treatment (RI-CART) found that only 3% of individuals diagnosed with autism spectrum disorder reported having fully received clinical genetic tests recommended by medical professional societies.

19 May 2020

Climate-Smart Agricultural Practices Increase Maize Yield In Malawi

Climate change creates extreme weather patterns that are challenging for people in developing countries and can impact agricultural yield and food security.

1 May 2020

New Genes Linked To Severe Childhood Speech Disorder

An international study led by Melbourne researchers has discovered nine new genes linked to the most severe type of childhood speech disorder, apraxia.

30 Apr 2020