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New gene therapy strategy could cure COPA Syndrome

Scientists compared five families and multiple generations to find a gene variant that prevents COPA Syndrome and opens the door to a new gene therapy for the condition.

27 Feb 2025

Gene editing shows promise for treating trisomy at cellular level

Gene editing techniques may eventually allow trisomy to be treated at the cellular level, according to an in vitro proof-of-concept study.

18 Feb 2025

UCLA study reveals key role of mismatch repair genes in Huntington’s disease

A new UCLA Health study has discovered in mouse models that genes associated with repairing mismatched DNA are critical in eliciting damages to neurons that are most vulnerable in Huntington's disease and triggering downstream pathologies and motor impairment, shedding light on disease mechanisms and potential new ways to develop therapies.

11 Feb 2025

Does COVID increase the risk of Alzheimer’s disease?

COVID-19, even in mild cases, is linked to changes in Alzheimer’s disease-related brain biomarkers comparable to four years of aging. This study raises concerns about long-term neurological risks and cognitive decline post-COVID.

2 Feb 2025

Alzheimer’s and Parkinson’s linked to aging brain’s failing waste disposal

New research uncovers how declining protein clearance mechanisms with age lead to Alzheimer’s, Parkinson’s, and other neurodegenerative diseases—offering hope for targeted therapies to slow or prevent these conditions.

30 Jan 2025

Prolonged REM sleep latency linked to Alzheimer’s disease biomarkers

Research indicates longer REM latency is associated with higher Alzheimer's biomarkers, pointing to its potential as an early indicator of neurodegeneration.

29 Jan 2025

Study links oral microbiome to cognitive function in older adults

The microbial ecosystems within our mouths may affect our cognitive function as we age, according to a study. Interventions such as prebiotics, including dietary nitrate, have potential for delaying cognitive decline.

28 Jan 2025

Decades of DNA expansion linked to Huntington’s disease neurodegeneration

Researchers uncover how slow CAG repeat expansions in neurons drive Huntington’s disease over decades.

24 Jan 2025

New imaging protocol enhances visualization of rare bone marrow cells

Bone marrow plays a crucial role in maintaining hematopoietic stem cells and bone homeostasis. However, research has been hindered by a lack of effective markers and monoclonal antibodies to accurately identify rare LepR+ stromal cells.

21 Jan 2025

By 2060, 1 million U.S. adults are projected to develop dementia annually

The lifetime risk of dementia is 42%, with significant variations by race and sex, underscoring the importance of public health strategies for prevention.

13 Jan 2025

Can green tea help prevent cognitive decline?

Higher green tea consumption significantly reduces cerebral white matter lesions in older adults, offering potential protective effects against cognitive decline.

8 Jan 2025

Study identifies novel IgAN loci through pleiotropy

IgA nephropathy (IgAN) is a prevalent form of primary glomerulonephritis characterized by the deposition of IgA in the glomerular mesangium, leading to a spectrum of histopathological lesions and a variable clinical course that can progress to end-stage renal disease in a significant proportion of patients.

2 Jan 2025

Emergence of FC428 clone and the global spread of ceftriaxone-resistant gonorrhea

Neisseria gonorrhoeae, responsible for the sexually transmitted infection gonorrhea, is becoming increasingly difficult to treat as the pathogen has developed resistance to multiple antibiotics.

30 Dec 2024

Study reveals potential Alzheimer’s risk in women using hormone replacement therapy

Hormone Replacement Therapy involves giving women synthetic oestrogen to replace depleting hormone levels and thus alleviate menopausal symptoms.

23 Dec 2024

Neanderthal legacy: The surprising genetics behind human tooth size

A recent study identifies key genetic factors—PITX2 expression and Neanderthal-introgressed HS3ST3A1—that contribute to variations in tooth size among modern human populations, especially highlighting differences across ancestries.

17 Dec 2024

Study aims to predict and improve treatment for Cryptococcus infections

Ultimately, the goal is to find ways to stop deadly disease caused by Cryptococcus neoformans from developing in humans and animals.

16 Dec 2024

Mayo Clinic researchers advocate for comprehensive TPMT genotyping across ancestries

Mayo Clinic researchers found that a gene variant, the TPMT∗8 allele, is associated with reduced metabolism of the thiopurine class of drugs. TPMT∗8 is relatively common in individuals of African or African American descent. A novel study in The Journal of Molecular Diagnostics, published by Elsevier, details the researchers' goal to provide pharmacogenomic testing that can be used clinically to predict drug response that is beneficial to all patients, regardless of their ancestral background.

11 Dec 2024

X-chromosome study reveals hidden genetic links to Alzheimer’s disease

A groundbreaking study explores the overlooked X-chromosome’s role in Alzheimer’s disease, revealing seven genetic loci linked to neurodegenerative decline and cognitive reserve.

9 Dec 2024

Early bilateral oophorectomy linked to increased Alzheimer's disease risk

Women with early bilateral oophorectomy face higher Alzheimer's risk, especially with APOE4 allele; education and hormone therapy may offer resilience.

9 Dec 2024

Early ovarian removal and APOE4 increase Alzheimer's risk in women

New research published by a team of researchers from the University of Toronto in collaboration with colleagues from the University of Alberta has found that women who have had both ovaries surgically removed before the age of 50 and carry a variant of the apolipoprotein gene, the APOE4 allele, are at high risk of late-life Alzheimer disease (AD). Use of hormone therapy mitigates this risk.

5 Dec 2024