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"Christchurch mutation" can block detrimental effects of Alzheimer's risk factor

Researchers at Gladstone Institutes have discovered that a rare genetic variant known as the "Christchurch mutation" can block detrimental effects of apolipoprotein E4, the best-established risk factor for the most common form of Alzheimer's disease.
New Zealand Maxine Nelson Robert Mahley Yadong Huang Gladstone Institutes Gladstone Investigator Yadong Huang

Australian study shows combined genomic screening for major hereditary diseases is cost-effective and health-saving

In an Australian study published in EClinicalMedicine, researchers evaluated the impact of a combined genomic screening program for hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia in young adults. The program proved to be cost-effective, reducing healthcare costs and averting numerous health events, while emphasizing the need for further optimization and equitable access within public healthcare systems.
Monte Carlo Proprotein Convertase Subtilisin Kexin Marina Litvinova Shutterstock Save Share Reprints Request Combined Figures Save Share Reprints Request Combined Breast Cancer

Gene therapy's double-edged sword: Breakthrough treatments face manufacturing and efficacy

Research explores the advancements, challenges, and economic implications of gene therapy for various diseases, including inherited blood disorders, malignancies treated with CAR-T cells, and diseases targeted by in vivo AAV vectors. The review highlights the transformative potential of gene therapies while acknowledging the complexities in manufacturing, safety, efficacy, and long-term durability.
Drug Administration Contract Development Gene Therapy Major Histocompatibility Complex B Cell Maturation Antigen Inverted Terminal Repeats

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Multi-ancestry study reveals 187 new genetic risk factors for prostate cancer

In a comprehensive multi-ancestry GWAS meta-analysis, researchers identified 451 risk variants for prostate cancer, including 187 new variants, demonstrating the utility of such studies across diverse populations. This analysis not only increased understanding of genetic risk factors but also differentiated between aggressive and non-aggressive prostate cancer types, underscoring the potential of genetic risk scoring in guiding screening and early detection strategies.
Nature Genetics Prostate Cancer Skin Cancer

Early life stress circumstances alter more genes in the brain than head injuries

A surprising thing happened when researchers began exploring whether early-life stress compounds the effects of a childhood head injury on health and behavior later in life: In an animal study, stress changed the activation level of many more genes in the brain than were changed by a bump to the head.
United States Ohio State University Ethan Goodman Jonathan Godbout Habib Akouri Olga Kokiko Cochran

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