EP02: Rare Disease Mendelian Disorders & Sequencing Breakthroughs
Rare Disease Mendelian Disorders are genetic conditions resulting from alterations in a single gene, following Mendel's laws of inheritance. These disorders can affect any system in the body and include diseases like cystic fibrosis, sickle cell anemia, and Huntington's disease. They are characterized by a wide range of symptoms and severity, often making diagnosis and treatment challenging.
In this podcast episode, EP02 "Rare Disease Mendelian Disorders & Sequencing Breakthroughs", dive into the realm of rare diseases alongside Bruno Reversade.
Celebrating Rare Disease Day, Bruno unveils insights on Mendelian Disorders, pinpointing how a singular gene defect is crucial for comprehending and treating these illnesses.
Bruno elaborates on the transformative role of sequencing technology, highlighting its ability to rapidly decode our exome, thereby revolutionizing diagnostic efficiency and accelerating research.
This episode takes you to the cutting edge of genomics, deciphering genetic intricacies and fostering optimism for advancements in rare disease research.
Tune in below to join the conversation!
MGI Podcast EP02: Rare Disease Mendelian Disorders & Sequencing Breakthroughs
Bruno Reversade is a renowned American human geneticist and developmental biologist. He is currently Professor and Director at KAUST (King Abdullah University of Science and Technology).
Reversade's research is celebrated for identifying the mutated genes behind Mendelian diseases, studying the genetics of identical twins, and discovering new hormones, marking significant contributions to genetic and developmental biology.
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About MGI
MGI Tech Co., Ltd. (referred to as MGI) is committed to building core tools and technology to lead life science through intelligent innovation. MGI focuses on R&D, production, and sales of DNA sequencing instruments, reagents, and related products to support life science research, agriculture, precision medicine, and healthcare. MGI is a leading producer of clinical high-throughput gene sequencers, and its multi-omics platforms include genetic sequencing, mass spectrometry, medical imaging, and laboratory automation.
Founded in 2016, MGI has more than 2,900 employees, nearly half of whom are R&D personnel. MGI operates in 100 countries and regions and has established multiple research and production bases around the world. Providing real-time, comprehensive, life-long solutions, its vision is to enable effective and affordable healthcare solutions for all.
