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Healing and hope for families affected by fragile X in Eastern Europe

Mothers and fathers and their young children crowded into an old, government-run children's hospital in Belgrade, Serbia, colorful, cartoonish drawings covering its hallway walls. Parents struggled to soothe their anxious, wriggly boys and girls. But they were patient, polite. It was, after all, a day unlike any other. A day for hope.

23 Jan 2020

UCLA scientists discover reason for higher rates of autoimmune disease in women than men

UCLA scientists have discovered one reason why autoimmune diseases are more prevalent in women than in men.

11 Dec 2019

$5 million in federal funding to accelerate potential treatments for urea cycle disorders

An international research consortium co-led by Andrea L. Gropman, M.D., at Children's National Hospital has received $5 million in federal funding as part of an overall effort to better understand rare diseases and accelerate potential treatments to patients.

24 Oct 2019

Researchers identify gene mutation that causes musculoskeletal problems in children

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development.

3 Oct 2019

Findings shed light on molecular reasons for early miscarriage

Researchers at Karolinska Institutet in Sweden have uncovered a chromosome-wide mechanism that keeps the gene expression of sex chromosomes in balance in our cells.

3 Oct 2019

Cure for Rett Syndrome a step closer as scientists successfully reactivate 'back-up’ genes

A team headed by Vincent Pasque at his Lab at KU Leuven alongside researchers from the Jean-Christophe Marine lab and the Edith Heard lab have made a significant step towards developing a treatment for Rett syndrome and other X chromosome linked disorders.

17 Sep 2019

Presence of XX sex chromosomes increases risk of heart attacks and coronary artery disease

New research at the University of Kentucky has confirmed that the presence of XX sex chromosomes increases the amount of fat circulating in the blood, which leads to narrowing of the arteries and ultimately a higher risk of heart attacks and coronary artery disease.

3 Sep 2019

Large study quashes idea of “gay gene”

A vast new study including almost half a million people has concluded that no single gene is associated with same-sex behavior.

2 Sep 2019

Simple technique to choose the sex of offspring by separating X and Y sperm

A simple, reversible chemical treatment can segregate X-bearing sperm from Y-bearing sperm, allowing dramatic alteration of the normal 50/50 male/female offspring ratio, according to a new study by Masayuki Shimada and colleagues at Hiroshima University, published on August 13 in the open-access journal PLOS Biology. The study was performed in mice, but the technique is likely to be widely applicable to other mammals as well.

From PLOS ONE 16 Aug 2019

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Rettsyndrome.org announced their funding of two new research projects today. Jeannie T. Lee, MD, Ph.D. of Massachusetts General Hospital is awarded a two-year ANGEL Grant for $600,000 to focus on reactivating the silent X chromosome for Rett syndrome and Davut Pehlivan, MDof Baylor College of Medicine is awarded a two-year Mentored Clinical Fellowship for $250,000 to study MECP2 Duplication syndrome.

6 Jun 2019

X chromosome News and Research

Healing and hope for families affected by fragile X in Eastern Europe

UCLA scientists discover reason for higher rates of autoimmune disease in women than men

$5 million in federal funding to accelerate potential treatments for urea cycle disorders

Researchers identify gene mutation that causes musculoskeletal problems in children

Findings shed light on molecular reasons for early miscarriage

Cure for Rett Syndrome a step closer as scientists successfully reactivate 'back-up’ genes

Presence of XX sex chromosomes increases risk of heart attacks and coronary artery disease

Large study quashes idea of “gay gene”

Simple technique to choose the sex of offspring by separating X and Y sperm

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Sussex scientists discover new genetic defect that causes intellectual disability

New gene therapy cures babies with fatal 'Bubble Boy' disease

Research unravels possible factor for female bias in lupus

Maternal smoking and pre-eclampsia may affect fertility of offspring

People born with short telomeres found to have short-lived immune system cells

Study finds novel opportunity for treating subgroup of cancer patients with MSI-H tumors

Research provides opportunities for biological control of insect-borne pathogens

Immune system errors linked to development of childhood leukemia

Study: Female birds have longer, healthier lifespan when they have help raising offspring

Chemistry researchers patent new method for making anti-leukemia compounds

E-Cigarettes and Ethanol: A forensic Perspective on Vaping

Understanding Consumer-Consented Data to Optimize Digital Health Programs

The Future is Wearable: Advancing Human Health Through Portable Spectroscopy

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