Madhuri Hegde, PhD, FACMG | Bionano Symposium 2024
Molecular Analysis of Facioscapulohumeral Muscular Dystrophy Using Optical Genome Mapping Madhuri Hegde, PhD, FACMG ...
Senior Vice President & Chief Scientific Officer, Revvity
Search every verified Madhuri Hegde interview, podcast appearance, and on-the-record quote — each transcript cross-checked by AI and human review to confirm speaker identity. Madhuri Hegde, Senior Vice President and Chief Scientific Officer at Revvity, presented at the Bionano Symposium 2024 on the molecular analysis of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping. She discussed the limitations of whole genome sequencing for detecting certain complex disorders, including repeat disorders, balanced translocations, and methylation disorders, and highlighted optical genome mapping as a technology capable of addressing some of these challenges. Hegde described Revvity’s validation of this method against the traditional Southern blot approach, noting collaborative efforts with external laboratories and the publication of their findings in Neurology: Genetics. Hegde reported that Revvity’s laboratory had received 547 cases for FSHD testing, with 308 positive for the D4Z4 contraction on the 4qA allele, leading to molecular characterization of FSHD1. She noted the detection of mosaic alleles in nine cases, biallelic contractions in two cases, and apparently homozygous contractions in four cases. Hegde also emphasized the importance of distinguishing between 4qA and 4qB alleles, as the 4qA allele is permissive for the condition, and mentioned that methylation testing could be recommended to rule out hypomethylation from complex D4Z4 alleles.
Molecular Analysis of Facioscapulohumeral Muscular Dystrophy Using Optical Genome Mapping Madhuri Hegde, PhD, FACMG ...
This week on The Genetics Podcast, Patrick is joined by Madhuri Hegde, SVP and Chief Scientific Officer of Revvity. They discuss Revvity’s advances in ultra-rapid clinical-grade sequencing, opportunities, challenges, and global inequities in newborn screening, and the dilemma of resequencing versus long-term data storage. Show Notes: 0:00 Intro to The Genetics Podcast 00:59 Welcome to Madhuri 01:52 Rebranding Revvity as a healthcare company 02:51 Advancements in sequencing and Revvity’s projects, including newborn screening tests and clinical ultra-rapid sequencing 12:29 Oppor…
This week on The Genetics Podcast, Patrick is joined by Madhuri Hegde, SVP and Chief Scientific Officer of Revvity. They discuss Revvity’s advances in ultra-rapid clinical-grade sequencing, opportunities, challenges, and global inequities in newborn screening, and the dilemma of resequencing versus long-term data storage. Show Notes: 0:00 Intro to The Genetics Podcast 00:59 Welcome to Madhuri 01:52 Rebranding Revvity as a healthcare company 02:51 Advancements in sequencing and Revvity’s projects, including newborn screening tests and clinical ultra-rapid sequencing 12:29 Oppor…
This week on The Genetics Podcast, Patrick is joined by Madhuri Hegde, SVP and Chief Scientific Officer of Revvity. They discuss Revvity’s advances in ultra-rapid clinical-grade sequencing, opportunities, challenges, and global inequities in newborn screening, and the dilemma of resequencing versus long-term data storage. Show Notes: 0:00 Intro to The Genetics Podcast 01:00 Welcome to Madhuri 01:59 Rebranding Revvity as a healthcare company 03:02 Advancements in sequencing and Revvity’s projects, including newborn screening tests and clinical ultra-rapid sequencing 13:06 Opportunities a…
Speaker: Dr. Madhuri Hegde Leading researchers and experts in genomics and newborn sequencing representing the U.S., the U.K., Europe, Australia, and the Middle East came together in London at the Royal Institution for the second annual International Conference on Newborn Sequencing co-hosted with Genomics England to present updates regarding their own research and share future plans. Follow us on: Instagram: / iconseq_org X: / iconseqorg LinkedIn: / iconseq Facebook: / iconseq #ICoNS #ICoNS23 #Newborn #Genetics
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