JIMD Podcasts

Dr George Diaz and Dr Spyros Batzios join the podcast to discuss a slight more unusual UCD, Arginase deficiency. They discuss the clinical features of the condition, the current management and a promising new therapy. Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency Nandaki Keshavan, et al https://doi.org/10.1002/jmd2.12266 Clinical effect...

Dr Sema Kalkan Uçar discusses her observations around two siblings with galactose mutarotase deficiency. Available open access at the link below. Two siblings with galactose mutarotase deficiency: Clinical differences Havva Yazici, et al https://doi.org/10.1002/jmd2.12263

Dr Megan Brophy and Dr Bob Bell join the podcast to talk about their recent work looking at AAV gene therapy in fibroblasts from patients with classic galactosemia. We discuss new insights into disease physiology and consider the challenges of scaling gene therapy towards in vivo model. AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in c...

Vicente Rubio, Belén Pérez, Santiago Ramón-Maiques join the podcast to discuss their recent work analysing the crystal structure of PMM2 and the insights this provides towards developing new treatments. Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures Alvaro Briso-Montiano, et al https://...

Dr Ashish Gupta and Dr Rene Pierpont of the University of Minnesota discuss their work looking at neurocognitive outcomes after transplant in childhood cerebral adrenoleukodystrophy. Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy Ashish O. Gupta, et al https://doi.org/10.1002/jimd.12435

The first podcast of 2022 discusses two papers with negative outcomes and explores the importance of sharing such results for patients and families and clinicians working with rare disease. Dr Nicoline Løkken discusses her work with resveratrol in mitochondrial myopathies (from 5m 18s) and Dr Arunabha Ghosh and Professor Brian Bigger talk about the use of genistein in Sanfilippo syndrome (from 10m...

Dr Gabriele Ramoser, Dr Federica Caferri, Dr Sabine Scholl-Bürgi and Dr Daniela Karall joined the podcast to discuss their recent work looking at the Austrian "Registry for Inherited Metabolic Disorders". We spoke about the importance of patient registries, variable prevalence rates and the difficulties around where to care for adults with IMD. 100 years of inherited metabolic disorders in Austria...

In March 2021 our special issue look at all aspects of Mitochondrial Disease. In this special episode Professor Shamima Rahman guest hosts as we welcome David Dimmock, Mike Lawlor, Guilhian Leipnitz and Marc Patterson to discuss their papers from that issue, looking at novel therapies in mitochondrial disease. For those skipping: DGUOK (from 3min 30sec), SO deficiency (from 19min) and Friedreich's...

Associate Professor Sabine Fuchs and PhD Candidate Vivian Lehmann join the podcast to explain cholangiocyte organoids and the role they play in understanding rare disease and testing new treatments. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism Vivian Lehmann, et al https://doi.org/10.1002/jimd.12450

The podcast is joined by the wonderful Dr Sander Houten and Dr Pablo Ranea-Robles who explain their recent working looking at the ATP binding cassette ABCD3 in dicarboxylic fatty acid metabolism. The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis Pablo Ranea-Robles et al https://doi.org/10.1002/jimd.12440

Dr Sandra Kingma from the Centre for Rare Diseases in Antwerp joins the podcast to discuss all things Mucopolysaccharidosis type I. Her recent paper asks 'where are we now?' and I asked her about where we are going next? MPS I: Early diagnosis, bone disease and treatment, where are we now? Sandra D. K. Kingma, An I. Jonckheere, First published: 03 September 2021 https://doi.org/10.1002/jimd.12431

Dr Marc Patterson and Dr Eugen Mengel explain the challenges of treating Niemann Pick Type C. Recent studies have shown the efficacy of Miglustat and Arimoclomol but they may end up forming just part of the puzzle being built to manage this condition. Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase...

Dr Chiara Pizzamiglio of the Department of Neuromuscular Diseases at Queen Square discusses her recent publication looking at a huge cohort of 197 patients with McArdle disease. Dr Pizzamiglio hi-lights the diagnostic challenges in this GSD and shows new insights into the spectrum of extra-muscular manifestations seen in the condition. Phenotype and genotype of 197 British patients with McArdle di...

Professor Warren Kruger of the Fox Chase Cancer Centre in Philadelphia joins the podcast to talk about homocystinuria, successful trials in gene therapy, why it costs so much to make viruses and what inspires him. Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy Hyung-Ok Lee et al https://doi.org/10.1002/jimd.12437 Interested lis...

Dr Elaine Murphy and Dr Robin Lachmann of the Charles Dent Metabolic Unit, look after over 400 adults with PKU. They join the podcast to discuss their recent work on long-term outcomes in early-treated Phenylketonuria and to hi-light some of their more interesting findings. Long-term cognitive and psychosocial outcomes in adults with phenylketonuria Lynne Aitkenhead et al https://doi.org/10.1002/j...

In the latest podcast we've returning guest Professor Thorsten Marquardt and his colleague Dr Jörn Oliver Sass talking about their work with 3-Hydroxyisobutyrate dehydrogenase deficiency. Thorsten reports their success in using a low valine diet for an affected patient and Oliver discusses the challenge of differentiating disorder metabolism from disease. 3-Hydroxyisobutyrate dehydrogenase (HIBADH...

Melissa Broeks speaks with the podcast about her recent paper reviewing disorders of the malate aspartate shuttle, an essential pathway supporting respiratory chain activity. Melissa provides a wonderful overview of the background and clinical significance of the MAS, all of which can be explored further in her #openaccess paper. Inborn disorders of the malate aspartate shuttle Melissa H. Broeks,...

The 'Junge Stoffwechselmedizin' or Young Metabolic Society is an initiative in Germany intended to support early career doctors, dieticians, scientists and nurses interested in the IMD field. Young metabolists, Dr Heiko Brennenstuhl and Dr Vanessa Kock, explain just what it's all about. They warmly welcome anyone who shares their vision of shaping the future of metabolic medicine in Europe (and be...

Professors Jun Kido, Johannes Häberle and Fanny Mochel discuss their recent work on Urea Cycle Disorders to hi-light the significance of this group of diseases. Jun and Johannes collaborated on a large natural history study in Japan of over 270 patients and Fanny recently reported on a large cohort of adults presenting with disease from 16-86 years of age. All three relate these findings to the fi...

Professor Robin Lachmann of the Charles Dent Metabolic Unit discusses the science behind Enzyme Replacement Therapy and Gene Therapy and explains why these do, and sometimes do not, work in Lysosomal Storage Disorders. Professor Lachmann also discusses the progress towards establishing adult metabolic services in the UK and elsewhere. Treating lysosomal storage disorders: What have we learnt? Robi...

Johannes Zschocke, Shamima Rahman, and Carlos Ferreira join hosts James Nurse and Eva Moreva to discuss their recent paper on the ICIMD, a new classification system that eloquently organises all things metabolic. They explain what's included, why it is necessary and just how simple it all is. Interested listeners should also read: Quo vadis: the re-definition of “inborn metabolic diseases” (https:...

Dr Terry Derks is joined by co-author, collaborator and IMD parent, Sebastiaan te Boekhorst to discuss the emergencyprotocol.net website, an initiative to empower families and standardise care for children with FAOD and GSDs. Alongside Terry and Sebastiaan are Enrique Landelino “Lande” Contreras and Marta D’Agosto, parents of Nina, a little glycogen storage disease warrior, sharing their thoughts...

The Congenital Disorders of Glycosylation are a rapidly growing group of IMDs but can present a number of diagnostic challenges. In this podcast, Dr Julien Park, Dr Robert Mealer, and Professor Thorsten Marquardt discuss an additional technique for assessing glycosylation and its role in the diagnosis and management of SLCC39A-CDG. N‐glycome analysis detects dysglycosylation missed by conventional...

Professor Judith Fridovich-Keil has been researching galactosemia for over 20 years and it was a privilege to welcome her to the JIMD podcast. The Professor and one of her former lab students and now medical student, Jessica MacWilliams, discuss the promise of new treatments, what drives their interest in galactosemia and a new method for formally assessing fine motor control in these patients. A...

Dr Patrick Forny and Dr Matthias Baumgartner join our social media editor to discuss their work on the first revision to the guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia. This follow-up to a very popular resource takes a new approach to reviewing evidence and discusses the latest advances in the field. Guidelines for the diagnosis and management of...