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Browsing Tag

genetic variants

11 posts
GGenetics
Novel Human Genetics Evidence Confirms Estimates of Genetic Prevalence, Underdiagnosis, and Potentially Greater Symptom Burden of Gain-of-Function CASR Variants Associated with ADH1
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Novel Human Genetics Evidence Confirms Estimates of Genetic Prevalence, Underdiagnosis, and Potentially Greater Symptom Burden of Gain-of-Function CASR Variants Associated with ADH1

  • 23 July 2025
BridgeBio Pharma, Inc. – By examining over 100 unique variants associated with the CASR gene causative of ADH1,…
GGenetics
Genetic Risk Score Developed for Venous Thromboembolism
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Genetic Risk Score Developed for Venous Thromboembolism

  • 6 June 2025
Credit: Dr_Microbe/Getty Images New research headed by a team at Lund University, Sweden, has identified three common gene…
GGenetics
Outline X-ray type illustration of a woman with breast cancer.
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Two Genes Linked to Breast Cancer in Black South African Women

  • 17 May 2025
Credit: SciePro/Fotolia Researchers at the Sydney Brenner Institute for Molecular Bioscience (SBIMB) at the University of the Witwatersrand…
GGenetics
Millions of Unknown Genetic Variants Revealed by Brazilians
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Millions of Unknown Genetic Variants Revealed by Brazilians

  • 17 May 2025
Caption: Tara Moore / Getty Images A study has revealed exceptionally high levels of genetic diversity in Brazil…
GGenetics
DNA Genetic Research
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The Role of CRISPR-based Gene Editing

  • 14 May 2025
There are an estimated 6,000 Mendelian diseases, most of which still lack cures. Gene editing is an essential…
GGenetics
DNA Genetic Research
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The Role of CRISPR-based Gene Editing

  • 14 May 2025
There are an estimated 6,000 Mendelian diseases, most of which still lack cures. Gene editing is an essential…
GGenetics
Exploring the genetic intersection between obesity-associated genetic variants and insulin sensitivity indices
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Exploring the genetic intersection between obesity-associated genetic variants and insulin sensitivity indices

  • 6 May 2025
Previous large-scale GWAS studies have independently identified numerous genetic variants associated with the obesity-related traits such as BMI…
GGenetics
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Adult- & Childhood-Onset Asthma Are “Different Diseases”: Genetic Study

  • 2 May 2025
Photo Credit: iStock.com/Silver Place Researchers found significant differences in genes potentially linked to adult-onset asthma and childhood-onset asthma,…
GGenetics
Brain and brain waves in epilepsy, illustration
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Epilepsy Drug Resistance Linked to Genetic Variants

  • 20 April 2025
Credit: KATERYNA KON/SCIENCE PHOTO LIBRARY/Getty Images People with focal epilepsy who are resistant to available medications may be…
GGenetics
New study shows how our genes could help explain drug resistance in epilepsy
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New study shows how our genes could help explain drug resistance in epilepsy

  • 19 April 2025
The Epilepsy Society has welcomed the findings of an international study that throws new light on why some…
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