Research Articles
Rare Genetic Variants in IEMs: From Multi-Omic Discovery to Precision Therapies
This article synthesizes current advancements in understanding and treating inborn errors of metabolism (IEMs) caused by rare genetic variants.
Decoding the Unknown: A Research-Focused Guide to Interpreting Genetic Variants of Uncertain Significance
This article provides a comprehensive resource for researchers and drug development professionals navigating the complex challenge of Variants of Uncertain Significance (VUS).
Decoding Genetic Variant Impact: From Molecular Mechanisms to Precision Medicine Applications
This article provides a comprehensive resource for researchers and drug development professionals on the functional consequences of genetic variants.
Unlocking Pancreatic Cancer's Fortress: The Delicate Dance Between Tumor, Environment, and Genes
Explore the complex crosstalk between pancreatic cancer cells, their microenvironment, and genetics that shapes tumor organization and treatment resistance.
Can Students Become Their Own Genetic Counselors? The Revolutionary Approach to Preventing Hereditary Diseases in Tunisia
Exploring how Tunisian high school students are learning genetic self-counseling to prevent hereditary hemoglobinopathies through innovative health education.
The Silent Divide: Unveiling 26 Years of Representation Gaps in Human Genetics Conferences
A comprehensive analysis of representation disparities in human genetics conferences over 26 years, examining gender and geographic participation gaps at ASHG and ESHG meetings.
Johnny Appleseeds of Ginseng: How Folk Science Is Saving an Appalachian Treasure
Explore how Appalachian ginseng hunters and scientists are working together to save American ginseng through traditional knowledge and modern conservation methods.
The Hidden Code: Genetics and Epigenetics of Chemoinduced Oral Mucositis
Exploring how genetic variations and epigenetic markers determine susceptibility to oral mucositis in pediatric cancer patients undergoing chemotherapy.
Catching the Silent Threat: How Science Predicts Who Will Develop Kidney Disease from Diabetes
Explore how predictive medicine uses advanced tools to forecast type 2 diabetes and chronic kidney disease development, enabling early intervention and personalized care.
Hermann Muller: The Geneticist Who Shaped How We Learn Life's Code
Explore how Nobel Prize-winning geneticist Hermann Muller's discoveries about mutations and heredity transformed biology education and shaped modern genetics curricula.