x

75% of people globally want unbiased news (Pew Research) but are concerned they're not getting that.

Get balanced coverage with Symby. See how stories are covered across diverse outlets and spot when one side covers a story the other skips.

PODCAST

JIMD Podcasts

Journal of Inherited Metabolic Disease

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We"re also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

science

All Episodes

00:19:29

Transplant Outcomes in X-ALD

JIMD Podcasts ·

2022/01/27

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

en

00:29:45

Positive Negatives - genistein and resveratrol

JIMD Podcasts ·

2022/01/14

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 38s). No effect of resveratrol in patients with mitochondrial myopathy: A cross-over randomized

en

00:14:09

100 Years Of IMD (in Austria)

JIMD Podcasts ·

2021/12/31

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—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of

en

00:41:02

Mitochondrial Disease Special Issue: Novel Therapies

JIMD Podcasts ·

2021/12/17

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 Ataxia (29min 10sec). The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes

en

00:15:42

Organoids in IMD

JIMD Podcasts ·

2021/12/03

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

en

00:18:45

Easy as ABC...D3

JIMD Podcasts ·

2021/11/04

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

en

00:14:03

MPS 1: Where are we now?

JIMD Podcasts ·

2021/11/04

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

en

00:25:00

Assembling the treatment puzzle in Niemann Pick C

JIMD Podcasts ·

2021/10/22

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 Arimoclomal 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 2/3 trial of a novel treatment Eugen Mengel, et al https://doi.org/10.1002/jimd.12428 Long-term

en

00:13:54

McArdle disease - expanding the clinical phenotype

JIMD Podcasts ·

2021/10/08

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 disease: An observational single-centre study Chiara Pizzamiglio et

en

00:26:02

Gene Therapy in CBS Deficiency

JIMD Podcasts ·

2021/09/27

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 listeners may also wish to look at: Guidelines for the diagnosis and management of cystathionine

en

00:23:20

Cognitive and psychosocial outcomes in early-treated PKU

JIMD Podcasts ·

2021/09/10

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/jimd.12413

en

00:11:27

Disease Or Disorder: New Insights in Valine Degradation

JIMD Podcasts ·

2021/08/06

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) deficiency—A novel disorder of valine metabolism Melanie Meyer et

en

00:12:18

Inborn Errors of the Malate Aspartate Shuttle

JIMD Podcasts ·

2021/07/22

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, et al https://doi.org/10.1002/jimd.12402

en

00:10:50

The Young Metabolists Society

JIMD Podcasts ·

2021/07/16

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 beyond) to get in touch via info@junge-stoffwechselmedizin.de. The “Young Metabolic Society”: An

en

00:30:38

Why everyone needs to know about Urea Cycle Disorders

JIMD Podcasts ·

2021/07/09

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 first revision of the Guidelines for Management published in 2019. Long-term outcome of urea cycle

en

00:24:50

Treatment In Lysosomal Storage Disorders

JIMD Podcasts ·

2021/06/25

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? Robin H. Lachmann https://doi.org/10.1002/jimd.12131 Education and training in adult metabolic medicine:

en

00:37:52

An International Classification of Inherited...

JIMD Podcasts ·

2021/06/11

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://doi.org/10.1007/s10545-015-9893-x) An International Classification of Inherited Metabolic

en

00:21:17

Emergency Protocol.net

JIMD Podcasts ·

2021/05/28

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 on what this work means to them. A generic emergency protocol for patients with inborn errors of

en

00:19:22

N-glycome analysis in Congenital Disorders of...

JIMD Podcasts ·

2021/05/14

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 methods in SLC39A8 deficiency Julien H. Park et al. https://doi.org/10.1002/jimd.12306

en

00:25:16

Galactosemia: An old diagnosis with new ideas

JIMD Podcasts ·

2021/04/30

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 pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in

en

262 results

Similar Podcasts

Classic Radio Science Fiction

solgoodmedia.com

Mission to Mars

Inception Point Ai

The 365 Days of Astronomy

365DaysOfAstronomy.org

Creek Devil

william Jevning

UFO Chronicles Podcast

Nik Hunter