Genetic Disorder News and Research

RSS

A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

SRF awards $230,000 grant to advance research on SYNGAP1-Related Disorders

The SynGAP Research Fund (SRF) has awarded a $230,000 grant to The Jackson Laboratory Rare Disease Translational Center to characterize a mouse model for SYNGAP1-Related Disorders, (SRD), a severe neurodevelopmental disorder marked by seizures, intellectual disabilities, and motor and behavioral challenges.

4 Dec 2024

Groundbreaking research sheds light on mitochondrial DNA depletion syndrome

Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA (mtDNA).

25 Nov 2024

Key kinase involved in cell division linked to abnormal blood vessel growth in genetic disorder

Inhibition of CDK6 may prevent arteriovenous malformations in hereditary hemorrhagic telangiectasia by regulating endothelial cell cycle progression.

8 Nov 2024

Werner syndrome gene plays key role in maintaining cellular organization and DNA stability

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 20 on October 17, 2024, entitled, "Werner syndrome RECQ helicase participates in and directs maintenance of the protein complexes of constitutive heterochromatin in proliferating human cells."

5 Nov 2024

Drug repurposing offers hope for SYNGAP1 patients

The SynGAP Research Fund 501(c)(3) has awarded a pair of grants to Dr. Clement Chow, a geneticist and Associate Professor in the Department of Human Genetics at the University of Utah. These grants are crucial steps in advancing therapeutic development for SYNGAP1-Related Disorders (SRD).

30 Oct 2024

Unlocking the secrets of Usher syndrome

The mistakes are small but carry severe consequences: In Usher syndrome, genetic mutations cause both hearing and vision loss. Cell biologist Professor Uwe Wolfrum from Mainz University is researching the molecular background of this rare genetic disorder - supported by foundations and, not least, by affected individuals themselves

28 Oct 2024

Investigating the relationship between COPD and liver disease in alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by the misfolding and accumulation of the mutant variant of alpha-1 antitrypsin (AAT) within hepatocytes, which limits its access to the circulation and exposes the lungs to protease-mediated tissue damage.

26 Oct 2024

Researchers identify protein linked to cardiovascular health in progeria

A new University of Maryland-led discovery could spur the development of new and improved treatments for Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder with no known cure that causes accelerated aging in children.

18 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

Genetic insights transform treatment for children with developmental disorders

Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights from the large-scale Deciphering Developmental Disorders (DDD) study, finds a new study.

15 Oct 2024

Survey: 25% of adults suspect undiagnosed ADHD

Attention deficit/hyperactivity disorder – also known as ADHD – is typically thought of as a childhood condition.

14 Oct 2024

Researchers identify key mechanism behind atherosclerosis in Hutchinson-Gilford progeria syndrome

A team of researchers from the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), the Centro de Investigaciones Biológicas Margarita Salas (CIB-CSIC), and the Instituto de Ciencias de Materiales de Madrid (ICMM-CSIC) has made a significant breakthrough in understanding the underlying causes of cardiovascular disease in patients with Hutchinson-Gilford progeria syndrome (HGPS), an ultra-rare genetic disorder that accelerates the aging process.

7 Oct 2024

Defective DNA repair mechanism linked to Huntington's disease progression

Researchers with McMaster University have discovered that the protein mutated in patients with Huntington's Disease doesn't repair DNA as intended, impacting the ability of brain cells to heal themselves.

27 Sep 2024

Why children with Down’s syndrome are predisposed to developing leukaemia

The study uncovers mechanisms linking Down syndrome to leukemia, emphasizing the role of oxidative stress and genetic alterations in fetal blood development.

26 Sep 2024

Study reveals life-changing impact of gene therapy for hemophilia B patients

Adults with hemophilia B saw their number of bleeding episodes drop by an average of 71 percent after a single infusion of gene therapy, according to the results of an international Phase III clinical trial published today in the New England Journal of Medicine by researchers from the University of Pennsylvania Perelman School of Medicine and a multicenter group of investigators.

25 Sep 2024

Scientists pinpoint thousands of gene variants linked to breast and ovarian cancer risk

Scientists have pinpointed thousands of genetic changes in a gene that may increase a person's risk of developing breast and ovarian cancer, paving the way for better risk assessment and more personalised care.

18 Sep 2024

Lipid molecule fuels cancer growth

Cancer cells seldom start off stealthy. Quite to the contrary, they announce their presence to the immune system by planting chemical red flags right on their membranes. Once alerted, the body's defenses can swoop in, destroying rogue cells before they can do much damage. Lying at the heart of this early warning system are lipids, fatty compounds previously seen by cancer biologists primarily as a fuel source for burgeoning tumors.

18 Sep 2024

Scientists awarded $7.7 million grant to develop treatment for rare brain disorder

Children born with a damaged gene needed for healthy brain development, SYNGAP1, experience seizures, sensory processing disorders, difficulty speaking, intellectual disability, and autism-like behaviors.

13 Aug 2024

Researchers identify key genetic players in dopamine signaling using transparent worms With The Help Of A Tin...

Dopamine, a powerful brain chemical and neurotransmitter, is a key regulator of many important functions such as attention, experiencing pleasure and reward, and coordinating movement.

12 Aug 2024

Study advances understanding of complex neurological disorder

To effectively treat a disease or disorder, doctors must first know the root cause. Such is the case for developmental and epileptic encephalopathies (DEEs), whose root causes can be hugely complex and heterogeneous. Scientists at St. Jude Children's Research Hospital demonstrated the value of DNA methylation patterns for identifying the root cause of DEEs, showing specific gene methylation and genome-wide methylation "episignatures" can help identify the genes that cause DEE. The findings were published today in Nature Communications.

7 Aug 2024