Shows
Clinician's RoundtableImproving Survival and Function in Pediatric TK2d with Nucleoside Therapy
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Caterina Garone, MD, PhD
What if a rare, progressive neuromuscular disease like thymidine kinase 2 deficiency (TK2d) could not only be stabilized, but partially reversed? Based on findings from a pooled analysis of pediatric patients, pyrimidine nucleoside or nucleotide therapy reduced mortality risk up to 95%, with nearly 75% of patients regaining at least one motor milestone. Joining Dr. Charles Turck to explore these survival and functional outcomes is Dr. Caterina Garone, Associate Professor of Medical Genetics in the Department of Medical and Surgical Sciences at the Alma Mater Studiorum University of...
2025-11-1900 minClinician's RoundtableImproving Survival and Function in Pediatric TK2d with Nucleoside Therapy
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Caterina Garone, MD, PhD
What if a rare, progressive neuromuscular disease like thymidine kinase 2 deficiency (TK2d) could not only be stabilized, but partially reversed? Based on findings from a pooled analysis of pediatric patients, pyrimidine nucleoside or nucleotide therapy reduced mortality risk up to 95%, with nearly 75% of patients regaining at least one motor milestone. Joining Dr. Charles Turck to explore these survival and functional outcomes is Dr. Caterina Garone, Associate Professor of Medical Genetics in the Department of Medical and Surgical Sciences at the Alma Mater Studiorum University of...
2025-11-1900 min
ProgressivA💌 Recently on Arbury RoadDear Arbury Road reader,First of all, thanks for subscribing to our newsletter. As always we remind you that Arbury Road lives thanks to the efforts of our volunteers, and that you can help us by sharing our content on social media and by making a small donation HERE. As little as 5 euros can really make a difference for us and help us to keep Arbury Road independent. Now let’s dig into some of our recent publications starting from the topic that is worrying us all across Europe, the crisis in Ukraine.✍️ Ukraine and Ukrain...
2022-02-1803 min
ProgressivA PodcastArbury Road Podcast - End of life treatment: towards a European legislation🎙 New episode of our Podcast dedicated to European Living Will and End-of-Life treatment. Prof. Caterina Garone, scientist and member of Arbury Road, discussed the topic with two excellent panellists:
👤 Miss Sophie in’t Veld, Member of the European Parliament (MEP) since 2004 for the Renew Europe Group and parliamentary leader of the delegation of the social-liberal Dutch political party Democrats 66 (D66);
👤 Mr Marco Cappato European politician and activist, a former member of the European parliament, treasurer of the Associazione Luca Coscioni and founder of Eumans.
🏳️🌈 Dignity, right of self-determination, European national health, biomedical research on end-of-life treatm...
2022-02-021h 00
ProgressivAEnd of life treatment: towards a European legislation 🇪🇺🎙 New episode of our Podcast dedicated to European Living Will and End-of-Life treatment. Prof. Caterina Garone, scientist and member of Arbury Road, discussed the topic with two excellent panellists: 👤 Miss Sophie in’t Veld, Member of the European Parliament (MEP) since 2004 for the Renew Europe Group and parliamentary leader of the delegation of the social-liberal Dutch political party Democrats 66 (D66); 👤 Mr Marco Cappato European politician and activist, a former member of the European parliament, treasurer of the Associazione Luca Coscioni and founder of Eumans. 🏳️🌈 Dignity, right of self-determination, European national health, biomedical research on end-of-life treatment...
2022-02-021h 00
Developmental Medicine and Child NeurologyAUGUST 2010: Discussion of Aicardi-Goutières Syndrome and the gene SAMHD1Authors Professor Yanick J Crow(Prof of Genetic Medicine, Manchester University) and Dr Vijeya Ganesan(Senior Lecturer at the Institute of Child Health, London, and Consultant at Great Ormond Street Hospital, London) discuss the bacground of Aicardi-Goutières syndrome and the most recently idenitfied gene, SAMHD1 with Editor In Chief of Developmental Medicine and Child Neurology, Dr Peter Baxter.
Please see below for a link to the paper:
Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis (p 725-732)
VENKATESWARAN RAMESH, BRUNO BERNARDI, ALTIN STAFA, CATERINA GARONE, EMILIO FRANZONI, MARIO ABINUN, PATRICK MITCHELL, DIPAYAN MITRA, MARK...
2010-07-1300 min