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UVA researcher developing innovative gene therapy to help children with Rett syndrome

A University of Virginia School of Medicine scientist is developing an innovative gene therapy she hopes will slow disease progression and improve movement, coordination and communication in children with Rett syndrome.

17 Mar 2021

MGH researchers uncover new clues about X chromosome inactivation

Researchers at Massachusetts General Hospital have uncovered new clues that add to the growing understanding of how female mammals, including humans, "silence" one X chromosome.

15 Mar 2021

Canadian pilot study uses gene therapy to successfully treat patients with Fabry disease

Results of a world-first Canadian pilot study on patients treated with gene therapy for Fabry disease show that the treatment is working and safe.

25 Feb 2021

Study reveals molecular machinery that regulates membrane association of Arf proteins

The small GTPases of the ADP-ribosylation factor (Arf) family are key initiators of various physiological processes including secretion, endocytosis, phagocytosis, and signal transduction. Arf family proteins function to mediate the recruitment of cytosolic effectors to specific subcellular compartments.

7 Jan 2021

Convalescent plasma in COVID-19 can be effective, especially early in disease

A team of researchers in the United States have conducted an extensive literature review looking at the usage of convalescent plasma from recovered COVID-19 patients to treat those with an impaired immune system. Their study, titled “Therapeutic use of convalescent plasma in COVID-19 patients with immunodeficiency: A systematic review,” has been released on medRxiv*, the preprint server.

12 Nov 2020

Novel insights open up new avenues for treating autoimmune conditions

Immune response is a balancing act: Too much can lead to inflammatory or autoimmune disease; too little could lead to a serious infection. Regulatory T cells, or Tregs, are important players in striking this balance, acting as "brakes" on the immune response so it doesn't go overboard.

27 Oct 2020

Distinct DNA methylation signature found in the cord blood of newborns diagnosed with ASD

A new study led by UC Davis MIND Institute researchers found a distinct DNA methylation signature in the cord blood of newborns who were eventually diagnosed with autism spectrum disorder (ASD).

22 Oct 2020

Researchers find link between dystrophic muscles and lymphatic system in mice with Duchenne disease

Researchers at the Universities of Maynooth and Bonn discover a new connection in muscular dystrophy Duchenne muscular dystrophy (DMD) is the most common muscle disease in children and is passed on by X-linked recessive inheritance.

27 Aug 2020

Researchers solve a long-held mystery of X chromosome inactivation

Researchers at Massachusetts General Hospital (MGH) have solved a mystery that has long puzzled scientists: How do the bodies of female humans and all other mammals decide which of the two X chromosomes it carries in each cell should be active and which one should be silent?

18 Aug 2020

Large-scale analysis of Alport syndrome reveals the effectiveness of existing treatments

A large-scale analysis of the clinical characteristics of Alport syndrome in Japanese patients has revealed that the effectiveness of existing treatment with ACE inhibitors and/or angiotensin receptor blockers (RAS inhibitors) varies depending on the type of mutation in the syndrome's causal gene (COL4A5).

7 Aug 2020

A new cell-based gene therapy approach to better treat patients with hemophilia A

In a new study from the Wake Forest Institute for Regenerative Medicine researchers have developed an optimized cellular platform for delivering Factor 8 to better treat patients with hemophilia A.

28 Jul 2020

New editorial published following adverse events of gene therapy clinical trial

The Editor-in-Chief of Human Gene Therapy, the first journal devoted to the field of gene therapy, and one of the world's leading experts on gene therapy have co-authored a new editorial, Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy, in response to the news of two deaths in a now-halted gene therapy clinical trial.

3 Jul 2020

MGH researchers identify key mechanism in X chromosome inactivation

Researchers at Massachusetts General Hospital have identified a key mechanism in X chromosome inactivation, a phenomenon that may hold clues that lead to treatments for certain rare congenital disorders.

12 Jun 2020

CSL Behring and Seattle Children's partner to develop gene therapies for primary immunodeficiency diseases

Seattle Children's Research Institute, one of the top pediatric research institutions in the world, and global biotechnology leader CSL Behring announced a strategic alliance to develop stem cell gene therapies for primary immunodeficiency diseases.

2 Jun 2020

New study offers clues to why autism is more common in boys than in girls

A new study in Neuron offers clues to why autism spectrum disorder is more common in boys than in girls. National Institutes of Health scientists found that a single amino acid change in the NLGN4 gene, which has been linked to autism symptoms, may drive this difference in some cases.

2 Apr 2020

Model that sheds light on severe Duchenne muscular dystrophy could pave the way for new therapies

Researchers have developed an experimental model of severe Duchenne muscular dystrophy that offers insight into the disease.

26 Mar 2020

New C. elegans model will accelerate study of a rare disease

The model will permit to accelerate and reduce the price of the research, which is studying the mechanisms and the possible pharmacological targets for the neuronal alterations of this disease.

20 Feb 2020

Wayne State researchers receive grant to develop new treatments for Barth syndrome

Barth syndrome is a rare and life-threatening, X-linked genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder.

16 Feb 2020

Successful gene therapy trial in patients with X-linked Chronic Septic Granulomatosis

American and British teams led by Drs Kohn (University of California, Los Angeles), Malech (NIH), Williams (Boston Children's) and Trasher (Great Ormond Street Institute of Child Health) published yesterday in Nature Medicine the conclusive results of a gene therapy trial conducted in the United States and Great Britain in 9 patients with X-linked Chronic Septic Granulomatosis (X-CGD), a rare and severe immune dysfunction. Six of them are free of treatment for complications generated by the disease.

28 Jan 2020

PerkinElmer provides newborn screening assay for PPMD’s New York State pilot program

PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced that it is providing the newborn screening assay for Parent Project Muscular Dystrophy’s Newborn Screening Pilot for Duchenne Muscular Dystrophy (Duchenne).

From Revvity 14 Jan 2020