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Ultra-rare gene variants drive coronary artery disease risk in European ancestry

Researchers found that ultra-rare genetic variants play a significant role in the heritability of coronary artery disease (CAD), particularly in individuals of European ancestry. These variants, especially those altering proteins or regulating genes in heart cells, pose higher risks than common variants.

13 Oct 2024

Regulating iron overload: Liraglutide's potential benefits

Researchers assess the role of liraglutide in regulating iron metabolism in a mouse model of hereditary hemochromatosis.

30 Sep 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

New FDA award fuels research into autosomal dominant tubulointerstitial kidney disease

Critical Path Institute (C-Path) is thrilled to announce its Polycystic Kidney Disease Outcomes Consortium (PKDOC) has been awarded an Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) focused Broad Agency Announcement (BAA) contract from the U.S. Food and Drug Administration (FDA).

24 Sep 2024

Addressing the challenges of polycystic kidney disease

Polycystic kidney disease (PKD) is an intractable disorder that causes fluid-filled cysts to grow in the kidneys. It is typically seen in adults. As one of the most prevalent hereditary kidney diseases, the autosomal dominant form of PKD is usually caused by mutations in the PKD1 and PKD2 genes.

11 Sep 2024

A new genetic perspective on monilethrix

From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at the University Hospital Bonn and the University of Bonn have now identified causative mutations in another keratin gene, KRT31. They hope that this will improve the diagnosis of this rare disease. Their results have now been published in the renowned "British Journal of Dermatology".

5 Sep 2024

Seaweed extract shows promise in protecting neurons in Parkinson’s disease

Ecklonia cava polyphenols (ECPs) show promise in reducing neuronal damage caused by rotenone in Parkinson’s disease (PD) by activating the Nrf2-ARE pathway, highlighting their potential as a neuroprotective treatment.

7 Aug 2024

New lab technique captures aging effects in Alzheimer's disease development

Researchers at Washington University School of Medicine in St. Louis have developed a way to capture the effects of aging in the development of Alzheimer's disease.

1 Aug 2024

New approaches for repairing the function of mutated proteins that cause stroke

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, severe, and deadly genetic disorder characterized by damage to small blood vessels in the brain and which triggers strokes.

16 Jul 2024

Gene editing silences mutant microRNA, restores hearing in adult mice

Researchers have used gene editing to restore hearing in adult mice with a type of inherited hearing loss. They showed that shutting down a damaged copy of a gene called a microRNA (miRNA) enabled the animals to regain hearing. The approach by a research team supported by the National Institutes of Health (NIH), reported in Science Translational Medicine, may eventually lead to potential treatments for inherited hearing loss in people.

13 Jul 2024

New study reveals the genetic cause of Parkinson's disease

According to Science Alert, neuroscientists from Johns Hopkins University have recently discovered a new treatment for Parkinson's disease using an FDA-approved cancer drug.

11 Jul 2024

Scientists identify over 5,000 genetic variants that enable certain cancers to thrive

Researchers performed saturation genome editing of the BAP1, whose dysfunction is related to cancer and impaired neurodevelopment.

10 Jul 2024

Will it soon be possible for doctors to use AI to detect and diagnose cancer?

Researchers developed binary and multiclass machine learning models to distinguish cancer from non-cancerous tissue samples.

24 Jun 2024

One copy of the Christchurch variant may confer protection against familial Alzheimer's disease

A scientific story that began with a discovery in just one extraordinary patient is now panning out. In 2019, an international team that included researchers from two Mass General Brigham hospitals -; Mass Eye and Ear and Massachusetts General Hospital (MGH)-; reported on the case of a patient who did not develop cognitive impairment until her late 70s, despite being part of a family at extremely high genetic risk for developing early-onset Alzheimer's disease.

20 Jun 2024

Study sheds light on the rate and nature of mutations in mitochondrial DNA

A new study from deCODE genetics uses pedigrees and sequence data from 64,806 Icelanders to shed light on the rate and nature of mutations in mitochondrial DNA (mtDNA) and the peculiar dynamics of its maternal transmission.

7 Jun 2024

Gene therapy trial: restored hearing in children with hereditary deafness

The safety and effectiveness of binaural adeno-associated virus 1 (AAV1)-human otoferlin (hOTOF) therapy in five children with autosomal recessive deafness 9 (DFNB9).

7 Jun 2024

Curcumin nanoparticles show promise in treating neurodegenerative diseases

Review demonstrates curcumin's neuroprotective effects in neurodegenerative diseases, enhancing its potential through innovative nanoparticle formulations. This advancement could significantly improve treatments for diseases like Parkinson's, Alzheimer's, and Multiple Sclerosis.

6 Jun 2024

New bilateral gene therapy shows promising results in treating genetic hearing loss

A novel gene therapy designed to target a form of inherited deafness restored hearing function in five children who were treated in both ears.

5 Jun 2024

APOE4 gene linked to early onset Alzheimer's, target for therapeutic intervention

A study published in Nature Medicine delineates how APOE4 homozygosity distinctly accelerates Alzheimer's disease pathology and biomarkers from the age of 55, suggesting a unique form of the disease and a potential focus for targeted therapies.

8 May 2024

Study identifies APOE4 homozygotes as high-risk group for Alzheimer's disease

Researchers from the Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute, led by Dr. Juan Fortea, Director of the Memory Unit of the Neurology Service at the same hospital, have found that over 95% of individuals over 65 years old who have two copies of the APOE4 gene -APOE4 homozygotes- show biological characteristics of Alzheimer's pathology in the brain or biomarkers of this disease in cerebrospinal fluid and PET scans.

6 May 2024