X chromosome News and Research

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Study uncovers cause of abnormal breathing in Rett syndrome

Hyperventilating. Breath holding until they turn blue. This abnormal breathing is frequent and disturbing in people with Rett syndrome, a rare genetic disease.

1 Sep 2026

Obscure X chromosome protein emerges as key driver in several cancers

A little-known protein encoded on the X chromosome is attracting growing attention for its potential role in cancer development and treatment.

5 Aug 2026

Advances in X chromosome inactivation open therapeutic opportunities for X-linked genetic disorders

A new review explores how advances in understanding X chromosome inactivation (XCI) are creating potential therapeutic opportunities for a range of X-linked genetic disorders, including Rett syndrome, Fabry disease, Duchenne muscular dystrophy, hemophilia, and others.

3 Aug 2026

Deramiocel cell therapy slows muscle and heart damage in advanced DMD

A cell therapy called deramiocel could slow muscle weakening in boys and young men with advanced Duchenne muscular dystrophy (DMD), and may also slow heart damage in those who already have heart muscle disease, a phase 3 clinical trial published in The Lancet has found.

29 Jul 2026

NOX4 inhibition may protect hearts affected by Duchenne muscular dystrophy

Researchers at the University of South Florida USF Health Morsani College of Medicine have identified a potential pathway that could protect cardiac function in people with Duchenne muscular dystrophy, a progressive and fatal genetic disease that weakens the body's muscles.

17 Jul 2026

New guideline published for diagnosing and treating Allan-Herndon-Dudley syndrome

An international team has published a new guideline for diagnosing and treating the rare genetic disease. It serves as a tool for everyone who treats and cares for patients affected by it.

8 Jul 2026

New study maps early genetic disruptions in Rett syndrome

To better understand what drives the emergence of symptoms in Rett syndrome, researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital took a closer look at brain cells in mice modeling Rett syndrome before symptoms appeared.

10 Jun 2026

Ancient Y chromosome gene UTY retains regulatory function in humans

The study, published in Volume 153, Issue 9 of the journal Development on May 14, 2026, by The Company of Biologists, is the first to precisely map endogenous UTY occupancy across the human genome and demonstrate that UTY remains functionally involved in transcriptional regulation during early human development.

5 Jun 2026

Jumping genes help strengthen the mammalian Y chromosome

The humble Y chromosome may be the smallest chromosome in the mammalian genome (and getting even smaller), but it is mighty: genes on the Y chromosome are critical for fertility in males.

1 Jun 2026

Why blood pressure rises faster in women after midlife

This review examines how sex-specific blood pressure trajectories are shaped by genetics, hormones, metabolic risk factors, lifestyle exposures, environmental stressors, and medical treatments. It highlights that women generally have lower blood pressure earlier in life but may experience steeper increases with aging, especially around and after menopause, with exogenous stressors appearing to have a greater impact in women than in men.

27 May 2026

Scientists identify genetic mechanisms connected to core autism behaviors

A long‑overlooked stretch of the human genome appears to play a distinct role in shaping the social and stereotypic repetitive behaviors that define Autism Spectrum Disorder (ASD), without affecting learning or other cognitive abilities, according to a major new study published in Nature.

13 May 2026

Blood-cell X chromosome loss may predict lower natural fertility

A study reveals that mosaic loss of the X chromosome in blood cells may indicate reduced natural conception likelihood in women, linking fertility and aging.

13 May 2026

Loss of X chromosome linked to female infertility risk

Chromosomes carry genetic information for biological sex, which generally assigns women two X chromosomes and men XY chromosomes.

12 May 2026

Obesity health risks differ significantly between men and women

New research being presented at this year's European Congress on Obesity (ECO) in Istanbul, Turkey (12-15 May), reveals distinct patterns of heart, metabolic, and inflammatory health risks between men and women living with obesity, providing an insight into how clinicians may be able to tailor management approaches.

13 Apr 2026

Study reveals how hyperdiploidy creates rare pre-leukemic clones in children

B-cell acute lymphoblastic leukemia is the most common form of childhood cancer. In this type of cancer, which affects blood cells, one of the most common abnormalities is the presence of cells with an excess of chromosomes (hyperdiploidy), a condition that leads to chromosomal instability.

8 Apr 2026

Study proposes genetic basis for autism’s strong sex bias

Autism has a significant and enduring sex bias, with roughly four boys diagnosed for every girl. For many years, experts have believed this disparity arises primarily from diagnostic inequities because much of autism research - and the screening tools that grew out of it - has historically focused on boys, effectively setting a male standard for what autism "looks like."

30 Mar 2026