Genotyping News and Research

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Higher BMI in adolescence worsens genetic risk for high blood pressure, study finds

Adolescent BMI amplifies genetic risk for high blood pressure, with sex-specific differences in how BMI modifies SBP susceptibility in adulthood.

17 Mar 2025

Researchers uncover 195 genetic risk factors driving women’s reproductive diseases

Scientists identified 195 genetic risk loci across 42 female reproductive health conditions, revealing shared genetic pathways and developing a polygenic risk score for intrahepatic cholestasis of pregnancy (ICP). These findings pave the way for personalized reproductive healthcare and targeted treatments based on genetic risk.

12 Mar 2025

Paper-based plasma spot card offers better HIV monitoring

In parts of the world where traveling to a clinic for routine blood tests is a financial and logistical challenge, HIV patients increasingly have the option to collect and ship a drop of their blood in paper-based devices that absorb the sample and store it for analysis in far-away labs.

24 Feb 2025

Self-sampling: New option for HPV screening

Genital human papillomavirus is the most common sexually transmitted infection in the United States and is thought to be responsible for more than 99% of cervical cancers.

14 Feb 2025

Study examines how diet impacts gene expression in fat tissue

As many as 40% of Americans are obese, putting them at an increased risk for high blood pressure, diabetes, stroke, heart disease and certain cancers, according to the CDC.

8 Feb 2025

Unveiling the genetic roots of bicuspid aortic valve

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease, according to a new study led by UTHealth Houston researchers.

16 Jan 2025

How loneliness and social isolation impact your health at the molecular level

This research identifies proteins linking social relationships to cardiovascular disease and mortality, offering insights for disease prediction and prevention.

7 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

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

How genetic traits contribute to earlier diabetes onset and metabolic challenges in South Asians

The study uncovers genetic factors driving early type 2 diabetes in South Asians, highlighting risks of insulin dependence and medication response challenges.

28 Nov 2024

Rising waters, rising risks: The health impact of climate-driven floods

Flooding, driven by climate change, poses escalating health risks globally, disproportionately affecting vulnerable populations while demanding innovative prevention, preparedness, and recovery strategies.

26 Nov 2024

New insights on the association between genes, gut microbiota, and mental health

The study identifies links between gut microbiota, genetic variants in IBD, and mental health disorders, offering insights into potential biomarkers for CMDs.

31 Oct 2024

Successful treatment of metastatic malignant glomus tumor with BRAF and MEK inhibitors

A new case report was published in Oncotarget's Volume 15 on October 11, 2024, entitled "Complete response to encorafenib plus binimetinib in a BRAF V600E-mutant metastasic malignant glomus tumor."

29 Oct 2024

Genetic variant identified as potential predictor for severe ulcerative colitis

The HLA-DRB1*01:03 genetic variant is associated with severe ulcerative colitis, significantly raising the risk of major surgeries and hospitalizations.

21 Oct 2024

Major donation fuels advances in ophthalmic artificial intelligence

The Icahn School of Medicine has announced a $5 million gift from the John and Daria Barry Foundation for the Center for Ophthalmic Artificial Intelligence (AI) and Human Health.

16 Oct 2024

Genetic risk factors for long-COVID uncovered in a large multi-ethnic study

Researchers identified genetic loci and phenotypes linked to long-COVID in the largest multi-ethnic GWAS, revealing increased risk factors for chronic conditions like fatigue, depression, and fibromyalgia.

16 Oct 2024

Revvity's EUROIMMUN launches solution for specific typing of Alzheimer's disease associated APOE gene

Revvity, Inc., announced today the launch of the in-vitro diagnostic EURORealTime™ APOE assay in European countries that accept the CE mark, which will enable accurate genotyping of the APOE gene. APOE genotyping is valuable to assess a patient’s risk for side effects prior to the start of an anti-amyloid (beta) therapy for Alzheimer’s disease.

3 Oct 2024

Study uncovers biological drivers of plasma proteins, offering new insights for disease biomarkers and drug discovery

Researchers mapped the biological influences on 4,775 plasma proteins, revealing the interplay of modifiable and non-modifiable factors, with key implications for disease biomarkers and drug targets.

30 Sep 2024

Study uncovers novel genetic variant associated with intellectual disability

Researchers at the Icahn School of Medicine at Mount Sinai have published a pivotal study in Nature Genetics (DOI: 10.1038/s41588-024-01917-1) that sheds light on a novel genetic variant associated with intellectual capacities and educational outcomes.

23 Sep 2024