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Genetic variants influencing vitamin D synthesis, metabolism, and transport

A Canadian review synthesizes genetic factors that influence vitamin D synthesis, metabolism, and transport, highlighting how polymorphisms affect circulating levels. It also explores how gene-environment interactions shape individual responses to supplementation and sunlight.

20 Aug 2025

Scientists map the genes behind diet and dementia risk

Researchers established a high-quality genetic dataset from the MIND diet trial, enabling new studies of gene–diet interactions in cognitive health. This resource allows deeper investigation into why individuals respond differently to dietary interventions targeting dementia risk.

6 Aug 2025

Breakthrough gene therapy reverses genetic deafness across age groups

Using gene therapy to treat hereditary deafness is safe and effective in both children and adults, according to new findings from a multicenter clinical trial.

22 Jul 2025

New research offers hope to preserve vision in autosomal dominant optic atrophy

Autosomal dominant optic atrophy (ADOA), the most common genetic optic neuropathy, is an insidious disease. It often presents slowly during childhood by way of blurry vision, trouble reading or focusing, and sometimes only as a failed vision test.

16 Jul 2025

Gene therapy brings back hearing in young and adult deaf patients

Gene therapy can improve hearing in children and adults with congenital deafness or severe hearing impairment, a new study involving researchers at Karolinska Institutet reports.

3 Jul 2025

Black tea helps in one Parkinson’s type, but soda and pesticides worsen another

A large longitudinal study found that pesticide exposure and caffeinated soda intake were linked to more severe motor symptoms in idiopathic Parkinson’s disease (iPD). In contrast, black tea consumption was associated with milder symptoms in patients with LRRK2-related Parkinson’s disease (LRRK2-PD).

16 Jun 2025

Structural insights into IVD enzyme function and isovaleric acidemia

IVD is a key enzyme in leucine catabolism, catalyzing the conversion of isovaleryl-CoA to 3-methylcrotonyl-CoA.

10 Jun 2025

Scientists identify early life opportunity for in vivo stem cell gene therapy

A team of scientists from the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy, has identified a unique window shortly after birth in which circulating blood stem cells can be effectively targeted with gene therapy directly in the body.

28 May 2025

Personalized gene editing corrects fatal infant metabolic disorder in world-first treatment

Researchers have used a personalised base-editing gene therapy to successfully treat an infant with carbamoyl-phosphate synthetase 1 (CPS1) deficiency, a rare and life-threatening inborn error of metabolism. This pioneering approach chemically corrects the underlying mutation without cutting DNA, showing promise for precision treatment of ultrarare genetic disorders.

20 May 2025

Early detection of Alzheimer's disease through blood biomarker

Individuals with a genetic predisposition to Alzheimer's disease show altered blood levels indicating damaged neuronal contacts as early as 11 years before the expected onset of dementia symptoms.

16 Apr 2025

Discovery of gene silencer offers hope for autosomal dominant leukodystrophy

A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene "silencer" that resides in junk DNA is directly sparing people from a devastating and fatal progressive neurological disease.

13 Feb 2025

Yourgene Health launches IONA Care+ non-invasive prenatal testing service

Yourgene Health (part of the Novacyt group of companies), a leading international molecular diagnostics group, today announced the launch of IONA® Care+, a fully comprehensive non-invasive prenatal screening service for genetic conditions, in the UK.

13 Feb 2025

ESGCT Conference Takeaways: A specialty laboratory perspective

Discover the latest innovations in cell and gene therapy via Cerba Research's highlights of ESGCT.

From Cerba Research 22 Nov 2024

New Alzheimer's guidelines focus on risk, not diagnosis, in healthy adults

Researchers from the International Working Group recommend categorizing biomarker-positive, cognitively normal individuals as "at risk" for Alzheimer's to avoid unnecessary diagnoses and emphasize preventive care.

4 Nov 2024

International experts propose revised Alzheimer's disease definitions

Today, Prof. Howard Feldman presented revised diagnostic criteria for Alzheimer's disease at the Clinical Trials on Alzheimer's Disease (CTAD) Conference in Madrid on behalf of the International Working Group (IWG).

1 Nov 2024

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