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Study reveals gender differences in Rett syndrome progression

A new UC Davis MIND Institute study offers critical insights into Rett syndrome, a rare genetic condition that affects mostly girls.

17 Oct 2024

Adenine base editors show potential to correct X-CGD-causing mutations

A collaborative effort between investigators at the National Institutes of Health's National Institute of Allergy and Infectious Diseases (NIAID) and Massachusetts General Hospital (MGH), a founding member of the Mass General Brigham healthcare system, demonstrates the potential of precise genome editing technologies, called adenine base editors, to correct disease-causing mutations in stem cells from patients with X-linked chronic granulomatous disease (X-CGD), a rare genetic disorder characterized by high susceptibility to infections.

16 Oct 2024

New study explores UBA1 dysfunction in VEXAS and cancer

A new research perspective was published in Oncotarget's Volume 15 on September 30, 2024, entitled, "UBA1 dysfunction in VEXAS and cancer."

3 Oct 2024

A faster, cheaper method to detect immune autoantibodies in whole blood

Researchers developed a quick and affordable whole-blood assay to detect autoantibodies against type I IFNs, enabling rapid diagnostics for immune disorders. This new method has potential clinical impact by addressing key limitations of current tests.

25 Sep 2024

Robotic gait training improves mobility in patients with spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked neuromuscular disorder that results from an abnormal expansion of gene sequences in the androgen receptor gene.

22 Aug 2024

Exploring alemtuzumab in reduced-toxicity conditioning for Asian patients with inborn errors of immunity

Allogeneic hematopoietic cell transplantation (HCT) is a commonly used curative therapy for individuals with inborn errors of immunity (IEI).

28 Jul 2024

Cellular competition determines X chromosome usage in female bodies

A new study published in Nature Genetics by the Lymphoid Development Group at the MRC Laboratory of Medical Sciences has reveals that the contribution of cells expressing maternal or paternal X chromosomes can be selectively skewed in different parts of the body. The study leverages human data from the 1000 Genomes Project combined with mouse models of human X chromosome-linked DNA sequence variation to advance our fundamental understanding of development in biologically female individuals who have two X chromosomes.

26 Jul 2024

Adeno-associated virus: The gene therapy revolution faces manufacturing and safety hurdles

Recombinant adeno-associated virus (rAAV)-based genetic applications to treat human diseases.

5 Apr 2024

Study reveals the inner workings of gene mutations linked to ultra-rare syndrome

A team from the University of Ottawa's Faculty of Medicine has completed an exciting new study that reveals the inner workings of gene mutations that result in an ultra-rare syndrome with fewer than 100 reported cases since its first description in the early 1960s.

18 Mar 2024

Females' immune system edges out males but at a cost of higher autoimmune risk

A review article highlights how two X chromosomes in females influence immune system composition and function, leading to faster infection clearance and stronger vaccination responses but also a higher risk of autoimmune diseases.

22 Feb 2024

Xist lncRNA identified as key trigger in female-biased autoimmune diseases

Researchers uncover that the Xist ribonucleoprotein complex, unique to females, is a key driver of sex-biased autoimmunity, offering new insights into autoimmune disorders' higher prevalence in women.

4 Feb 2024

RBMX protein emerges as key player in cancer progression and immunotherapy response

A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 1, entitled, "Aberrant RBMX expression is relevant for cancer prognosis and immunotherapy response."

17 Jan 2024

Researchers report progress in the search for more accurate blood markers for acute kidney injury

Using cells from kidney biopsies, Johns Hopkins Medicine, researchers report progress in the search for more accurate and easier-to-obtain markers to help predict, manage and assess treatment of acute kidney injury (AKI).

14 Dec 2023

Key gene linked to male bias in autism, Tourette's, and ADHD uncovered

Sex bias in attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Tourette syndrome (TS).

8 Dec 2023

JAK inhibitors and tocilizumab elicit better response rates in VEXAS syndrome

New research at ACR Convergence 2023, the American College of Rheumatology's (ACR) annual meeting, found that JAK inhibitors (JAKi) and tocilizumab elicited better response rates in VEXAS syndrome compared to other targeted therapies.

7 Nov 2023

Deep brain stimulation improves memory and promotes neuron growth in Rett mice

A recent study from the lab of Dr. Jianrong Tang, associate professor at Baylor College of Medicine and principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital shows that deep brain stimulation (DBS) of a specific brain region results in a significant and sustained improvement of memory in Rett mice.

13 Oct 2023

Differences in immune responses to IL-6 inhibition therapy between male and female COVID-19 patients

Researchers investigated whether anti‑interleukin 6 monoclonal antibodies were related to heterogenous treatment effects between male and female COVID-19 patients.

24 Aug 2023

Nationwide Children's Hospital pioneers new gene therapy for Duchenne muscular dystrophy

In a landmark moment for the Abigail Wexner Research Institute at Nationwide Children's, a 5-year-old from Bellefontaine, Ohio, received the first dose of a recently approved gene therapy for Duchenne muscular dystrophy at Nationwide Children's Hospital, where the therapy was invented and initially tested.

8 Aug 2023

Study sheds light on mechanisms behind a rare disease found almost exclusively in boys

A University of Ottawa-led research team has published rigorous new research that advances a quest to understand a puzzling – and heartbreaking – ultra-rare disease that's found almost exclusively in boys.

3 Aug 2023

New porcine model could help develop treatments for Dduchenne muscular dystrophy

The group of LMU scientist Eckhard Wolf has developed a porcine DMD model with a mutation, which mimics the hallmarks of the human disease but develops them in an accelerated mode.

12 Jul 2023