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Genetic screening before pregnancy detects the risk in 44% of couples

Are would-be parents carrying a genetic risk of serious illnesses that they could potentially pass on to their children? In the USA, doctors recommend that couples have genetic screening before trying to conceive.

30 Aug 2022

New underlying cause of Wiskott-Aldrich syndrome discovered

Researchers at the Salk Institute and King Abdullah University of Science and Technology (KAUST) in Saudi Arabia have discovered a new underlying cause of Wiskott-Aldrich syndrome, a rare genetic disease that leads to bleeding and immune deficiencies in babies.

13 Jul 2022

NUS researchers discover a new way to interpret unsolved Mendelian diseases

The development of an embryo is a well-orchestrated string of processes, ensuring correct formation and positioning of vital organs of the growing organism.

29 Jun 2022

Duke researchers identify role for key gene in developmental disability syndrome

A single gene that was previously found to be the driving force in a rare syndrome linked to epilepsy, autism and developmental disability has been identified as a linchpin in the formation of healthy neurons.

28 Jun 2022

One in 500 men may carry an extra X or Y chromosome which could increase risk of several diseases

Around one in 500 men could be carrying an extra X or Y chromosome – most of them unaware – putting them at increased risk of diseases such as type 2 diabetes, atherosclerosis and thrombosis, say researchers at the universities of Cambridge and Exeter.

10 Jun 2022

Potential new diagnostic marker predicts successful, efficient development of mammalian egg cells

Researchers at the Centre for Genomic Regulation in Barcelona have identified a potential new diagnostic marker that predicts the successful and efficient development of mammalian egg cells.

23 May 2022

Understanding sex differences in the pathophysiology of SARS-CoV-2 infection

A recent study published in the journal Immunology analyzed whether sex mattered in the immune response to SARS-CoV-2.

29 Apr 2022

Genetic cause of lupus identified

An international team of researchers has identified DNA mutations in a gene that senses viral RNA, as a cause of the autoimmune disease lupus, with the finding paving the way for the development of new treatments.

27 Apr 2022

Gene discovery could pave the way for new and more effective treatments for lupus

Researchers from The Australian National University have identified a gene called TLR7 that, when over-activated, is responsible for causing lupus, an autoimmune disease that can be life-threatening in severe cases.

27 Apr 2022

$4 million program launched to find transformative therapies for ADNP syndrome

Researchers at the UC Davis MIND Institute are launching a $4 million program to find transformative therapies for ADNP syndrome. The rare genetic condition causes developmental delays and can affect the brain, heart, gastrointestinal system and more.

29 Mar 2022

Study shows the impact of gender-affirming hormone therapy on epigenetic signature of genes

Gender-affirming hormone therapy could influence the way a person's genes are turned on or off, according to a new study.

28 Feb 2022

Surprising discovery about genetic form of microcephaly has potential to inform treatment strategies

Virginia Tech researchers publishing in the Journal of Medical Genetics made a discovery about a genetic form of microcephaly -- a condition where babies' heads and brains are smaller and grow more slowly than those of unaffected children.

14 Feb 2022

Researchers identify autoantibody targets in COVID-19 patients

In a new study, researchers have been investigating auto-immune responses to natural human antigens in COVID-19 patients.

14 Feb 2022

Scientists discover a division of labor between genetic switches

Two X chromosomes are actually one too many. Female mammalian cells hence switch off one of them – but only when the cells start to specialize into tissues.

5 Jan 2022

Researchers use gene-editing to create single sex mice litters

Scientists at the Francis Crick Institute, in collaboration with University of Kent, have used gene editing technology to create female-only and male-only mice litters with 100% efficiency.

6 Dec 2021

Mutations in a crucial gene responsible for chemotherapy failure in some blood cancer patients

Mutations in a crucial gene are the key reason that chemotherapy fails in some patients with blood cancer, a study by Nanyang Technological University, Singapore (NTU Singapore) and Singapore General Hospital (SGH) has found.

6 Dec 2021

Non-coding RNA plays a key role in regulating behavior of chromosome loops and gene expression

An important player in the healthy development of female embryos turns out also to play a key role in regulating the behavior of chromosome loops and gene expression in both sexes, according to a new study by researchers at Massachusetts General Hospital.

2 Dec 2021