Australian paediatric neurologist
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The role of genetics in both pediatric and adult epilepsies is expanding. Now, making a genetic diagnosis in epilepsy isn't just important for family planning and prognostication - these diagnoses can also improve patients' care starting at the moment of diagnosis. Our guest today, Ingrid Scheffer, is a leader in gene discovery in epilepsy. Dr. Scheffer is a Laureate Professor of Pediatric Neurology at the University of Melbourne, and she directs the Children's Epilepsy Research Center at Austin Health. She says while there's still a long way to go before precision medicine is available for the hundreds of known genetic epilepsies, her patients are already benefiting from genetic testing, in many ways. Dr. Scheffer was interviewed by ANA Investigates Producer and epileptologist Dr. Rohit Das of UT Southwestern Medical Center. Series 3, Episode 12. Featuring: Guest: Ingrid Scheffer, AO FRS FAA FAHMS, University of Melbourne Interviewer/Producer: Rohit Das, MD, UT Southwestern Disclosures: In the past 24 months, Ingrid Scheffer has consulted for Atheneum Partners, Biohaven Pharmaceuticals Inc, Care Beyond Diagnosis, Epilepsy Consortium and Zynerba Pharmaceuticals, has served as an investigator for Anavex Life Sciences, Cerebral Therapeutics, Cerecin Inc, Cereval Therapeutics, Eisai, Encoded Therapeutics, EpiMinder Inc, Epygenyx, ES-Therapeutics, GW Pharma, Marinus, Neurocrine BioSciences, Ovid Therapeutics, Takeda Pharmaceuticals, UCB, Ultragenyx, Xenon Pharmaceutical, Zogenix and Zynerba; received speaker honoraria from Biocodex, BioMarin, Chiesi, Liva Nova and UCB; received funding for travel from Biomarin, Eisai and UCB; and served on scientific advisory boards for Bellberry Ltd, BioMarin, Chiesi, Eisai, Encoded Therapeutics, Knopp Biosciences, Rogcon, Takeda Pharmaceuticals and UCB. Ingrid Scheffer may accrue future revenue on pending patent WO2009/086591: Diagnostic And Therapeutic Methods For EFMR (Epilepsy And Mental Retardation Limited To Females); has a patent for SCN1A testing held by Bionomics Inc and licensed to various diagnostic companies (WO/2006/133508); she has a patent for a molecular diagnostic/therapeutic target for benign familial infantile epilepsy (BFIE) [PRRT2] WO/2013/059884 with royalties paid.
Laureate Prof. Ingrid Scheffer & Asst. Prof. Michael Hildebrand from the University of Melbourne share their research into the genetic links between febrile seizures and a child's likelihood of developing epilepsy. ---More about Ingrid & Michael: https://www.torierobinson.com/epilepsy-sparks-insights/ingrid-scheffer-michael-hildebrand---Glossary:There are many terms used in this recording which you can find in the Epilepsy Sparks Glossary: https://www.epilepsysparks.com/glossary---Follow Torie on:Twitter: https://twitter.com/torierobinson10LinkedIn: https://www.linkedin.com/torierobinsonInstagram: https://www.instagram.com/torierobinson10Facebook: https://www.facebook.com/TorieRobinsonSpeakerCheck out the website: https://www.torierobinson.com
Since the first publications linking SCN2A with severe genetic epilepsy, developmental encephalopathy and autism, research has progressed significantly. To help understand the progress made and where research is heading we talk with Prof Ingrid Scheffer who has published many key papers in SCN2A and genetic epilepsies. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts. You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app Links: Sodium channel gene defects (SCN2A) and seizures – 2002 Channelopathies as causes of genetic epilepsy – 2003 SCN2A mutations in 2 families – 2007 SCN2A Encephalopathy – 2015 Genetic and phenotypic heterogeneity in SCN2A – 2017 (Marcus Wolff) Gain vs loss of function – 2018
Brant Guichard has heard The Music for as long as he can remember.
Brant Guichard has heard The Music for as long as he can remember.
Autism, seizures, and overloaded immune systems - could these really be side effects of vaccines? From the archives, we bring back our dive into the science to find out how safe vaccines really are. We spoke to public health researchers Prof. Dan Salmon and Prof. Amy Kalkbrenner and neurologist Prof. Ingrid Scheffer. Check out the full transcript here: http://bit.ly/2IVgabd Selected References: The National Academies (aka Institute of Medicine) report on vaccine safety A report on the genetic underpinnings of epilepsyThis study looked for neurologic disorders after the MMR shot in half a million kidsThis one looked at all children born in Denmark between 1991 and 1998 Credits: This episode has been produced by Heather Rogers, Wendy Zukerman, and Shruti Ravindran. Production help from Rose Rimler. Our senior producer is Kaitlyn Sawrey. We’re edited this week by Blythe Terrell and Annie-Rose Strasser. Fact checking by Michelle Harris, with help from Rose Rimler. Sound design by Martin Peralta. Music written by Bobby Lord. For this episode we also spoke with Dr. Saad Omer, Dr. Neal Halsey, Dr. Paul Offit, Dr. Frank DeStefano, and Prof. Alison Buttenheim. And an extra thanks to Bonnie Stanway, Ivona Stamatoska, Reese and Walter Ludwig, the Zukerman Family, Joseph Lavelle Wilson and - of course! - Leo Rogers.
While progress has been made, men still hold 60 per cent of senior positions within the Australian Medical Research Institute’s 49-member organisations, according to 2018 data. For International Women’s Day, six female leaders in medical research come together to discuss the professional challenges they’ve overcome, to help encourage more women in science to build successful, enduring careers. Professor Fabienne Mackay, head of the School of Biomedical Sciences, joins Professor Kathryn North AC, Director of the Murdoch Children’s Research Institute with Laureate Professor Ingrid Scheffer AO and others to dispel some myths about women working at the cutting-edge of medical research. “Role models will not ask aspiring young women what would help them, but rather what stops them,” says Professor Mackay. “At a point in your life something will drive your passion, it will come early or later depending on the person, but once you have that passion nothing should stop you.” Recorded: March 7, 2019. Reporters: Dr Andi Horvath and Buffy Gorrilla. Producers: Dr Andi Horvath, Buffy Gorrilla and Arch Cuthbertson. Audio engineer: Arch Cuthbertson. Banner: Getty Images.
Brant Guichard has heard The Music for as long as he can remember.
Autism, seizures, and overloaded immune systems. Could these really be side effects of vaccines? This week, we dive into the science to find out how safe vaccines really are. We also talk to public health researchers Prof. Dan Salmon and Prof. Amy Kalkbrenner and neurologist Prof. Ingrid Scheffer. Check out our full transcript: http://bit.ly/2PrqtX3 Our Sponsors:Cole Haan | Google Cloud, Maker of GSuite | Ziprecruiter | WPEngine Credits: This episode has been produced by Heather Rogers, Wendy Zukerman, and Shruti Ravindran. Production help from Rose Rimler. Our senior producer is Kaitlyn Sawrey. We’re edited this week by Blythe Terrell and Annie-Rose Strasser. Fact checking by Michelle Harris, with help from Rose Rimler. Sound design by Martin Peralta. Music written by Bobby Lord. For this episode we also spoke with Dr. Saad Omer, Dr. Neal Halsey, Dr. Paul Offit, Dr. Frank DeStefano, and Prof. Alison Buttenheim. And an extra thanks to Bonnie Stanway,Ivona Stamatoska, Reese and Walter Ludwig, the Zukerman Family, Joseph Lavelle Wilson and - of course! - Leo Rogers. Selected References:The National Academies (aka Institute of Medicine) report on vaccine safety A report on the genetic underpinnings of epilepsyThis study looked for neurologic disorders after the MMR shot in half a million kids This one looked at all children born in Denmark between 1991 and 1998
Practical Neurology Editor Phil Smith is joined by Ingrid Scheffer to discuss her ABN Conference Gordon Holmes' lecture: "Epilepsy genetics comes of age". Professor Ingrid Scheffer, paediatric neurologist and professor at the University of Melbourne, Australia, and Florey Institute of Neuroscience and Mental Health, is a world leading voice in the diagnosis and treatment of epilepsy. The ABN conference 2016, which theme was "The Seven Ages of Man", was held in May, in Brighton, UK.