JIMD Podcasts

Dr Kimberly Goodspeed discusses a diverse group of patients with the rare lysosomal storage disorder, aspartylglucosaminuria, a condition most commonly seen amongst Finnish patients. A cross-sectional natural history study of aspartylglucosaminuria Kimberly Goodspeed, et al https://doi.org/10.1002/jmd2.12294

Dr Thomas Cassini and Dr Carolina Montano from the NIH's Undiagnosed Diseases Program explain how they work to end the diagnostic journey for patients with undiagnosed conditions. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program Carolina Montano, et al https://doi.org/10.1002/jimd.12506

The podcast welcomes Professor Maria Estela Rubio-Gozalbo and welcomes back Professor Judy Fridovich-Keil to talk mRNA therapy, gene therapy and disease models in classic galactosemia. Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia Britt Delnoy, et al https://doi.org/10.1002/jimd.12512 Neonatal GALT gene replacement offers metabolic and ph...

In this episode, Dr Gepke Visser, Dr Sacha Ferdinandusse and (soon to be Dr) Marit Schwantje discuss the Netherlands' experience of disorders of MTP activity detected on newborn screening. They also shed light on late-presenting disease phenotypes related to thermo-sensitivity. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified af...

Edwin Kirk from the the Australian Reproductive Genetic Carrier Screening Project, discusses the challenges of implementing screening both prior to and during pregnancy. Edwin would like to acknowledge the many international experts who have helped with variant classification, particularly in relation to the PMM2 variant mentioned in the podcast, and in particular would like to thank Belén Pérez a...

Dr Pierre-Axel Monternier discusses his group's work looking at a modified form of the drug pioglitazone to treat X-linked adrenaleukodystrophy. Therapeutic potential of deuterium-stabilized (R)-pioglitazone—PXL065—for X-linked adrenoleukodystrophy Pierre-Axel Monternier, et al https://doi.org/10.1002/jimd.12510

Professor Manuel Schiff joins podcast host James Nurse to discuss a recent study looking at the successful use of Betaine in the management of early-onset MTHFR deficiency. Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency Mathilde Yverneau, et al (2022) https://doi.org/10.1002/jimd.12504 Interested listeners may also want to read: Guidelines for d...

Dr Sema Kalkan Uçar returns to the shortcast to present a cohort of 15 patients with MNGIE disease, including 9 with the p. P131L (c.392 C > T), or “Mediterranean” variant. Clinical spectrum of early onset “Mediterranean” (homozygous p. P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy Sema Kalkan Uçar, et al https://doi.org/10.1002/jmd2.12315

Dr Xiping Cheng joins podcast host James Nurse to explain her group's work exploring how glutaminase 2 knockdown could provide an alternative approach to management in Urea Cycle Disorders. Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model Xia Mao, et al https://doi.org/10.1002/jimd.12474

A team effort as Demi Beneru, Michel Tchan and Kate Billmore explain how they successfully supported a mother with GSD IIIa during her pregnancy. Glycogen storage disease type IIIa in pregnant women: A guide to management Demi Beneru, Michel C. Tchan, Kate Billmore, Roshini Nayyar https://doi.org/10.1002/jmd2.12282

Robin Lachmann and Marc Patterson return to the podcast and are joined by their collaborator Dr Sandra Sirrs, to talk about their recent Editorial on drug development in rare disease. Lost in translation—Challenges in drug development for inherited metabolic diseases Robin H. Lachmann, Marc C. Patterson, and Sandra Sirrs https://doi.org/10.1002/jimd.12501

Elaine Zaunseder and Dr Ulrike Mütze join the podcast to discuss the role of machine learning in newborn screening and why this is something clinicians need to know about. Opportunities and challenges in machine learning-based newborn screening—A systematic literature review Elaine Zaunseder, et al https://doi.org/10.1002/jmd2.12285

In the first of two podcast intended to complement the January 2022 special issue, Dr Hilary Vernon joins the podcast to discuss the clinical presentation and natural history of Barth Syndrome and explore current and future treatments. Clinical presentation and natural history of Barth Syndrome: An overview Carolyn Taylor, et al https://doi.org/10.1002/jimd.12422 Current and future treatment appro...

The second half of our Barth Syndrome special issue tie in podcast features guest presenter Erik Lontok of the Barth Syndrome Foundation. The podcast looks at the work of Fred Vaz, Bill Pu, Jan Dudek, Christophe Maack and Adam Chicco, all of whom are working to advance our knowledge of Barth Syndrome. Skip to specific papers at the timing below: Dr Fred Vaz, from 2 minutes Dr Bill Pu, from 14 minu...

In honour of CDG Awareness Day, Dr Hudson Freeze and Dr Jaak Jaeken revisit a discussion from the Scientific CDG Symposium 2021, considering what makes a Congenital Disorder of Glycosylation. CDG or not CDG Hudson H. Freeze, Jaak Jaeken and Gert Matthijs https://doi.org/10.1002/jimd.12498

Dr Cindy Towns presents seven cases of HCP from a single family with a novel mutation who have exhibited an unusually high penetrance and high rates of severe, recurrent attacks. High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria Cindy Towns, et al https://doi.org/10.1002/jmd2.12281

Inherited Metabolic Diseases may have both a direct and indirect on dentition resulting on a number of challenges for parents, carers, clinicians and dentists when it comes to managing this. Dr Lorna Hirst and Dr Anupam Chakrapani join the podcast to explain what some of these issues are and why dentists should not be intimidated by IMD patients. Inborn errors of metabolism and their impact in pae...

Dr David Olsson discusses the Swedish experience following the introduction of newborn screening for VLCAD deficiency. Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics David Olsson, et al https://doi.org/10.1002/jmd2.12268

Ashley Hertzog discusses the identification of an unexpected promoter variant as a cause of late-onset OTC deficiency. A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency Ashley Hertzog, et al https://doi.org/10.1002/jmd2.12289

Dr Rebecca Levy of the Lucile Packard Children's Hospital in Stanford, joins the podcast to discuss her recent work looking at epilepsy in NGLY1 deficiency. Delineating the epilepsy phenotype of NGLY1 deficiency Rebecca J. Levy, et al https://doi.org/10.1002/jimd.12494

Dr Ronen Spiegel and Dr Bernd Schwahn join the podcast to discuss their natural history study in Molybdenum cofactor deficiency and the promise of treatment with cPMP for individuals with MoCD-A. Molybdenum cofactor deficiency: A natural history Ronen Spiegel, et al https://doi.org/10.1002/jimd.12488

Dr Maria Fuller explains the clinical utility of the biomarker Chondrotin sulfate disaccharide in the diagnosis of MPSIVA. Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA Sharon J. Chin, et al https://doi.org/10.1002/jmd2.12132

Dr Kristin Ørstavik explains her team's observations of three patients with a novel mutation in the HADHB gene leading to a mild form of FTP deficiency. Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency Kristin Ørstavik, et al https://doi.org/10.1002/jmd2.12276

Professor Ranganath returns to the podcast and is joined by Dr Nick Sireau to discuss the SONIA 2 study, getting the Nitisinone dose right and how we should manage alkaptonuria in children. Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling Lakshminarayan R. Ranganath, et al https://doi.org/10.1002/jmd2.12261 Effects of a protein-restricted...

Professor Judy Fridovich-Keil discusses her work looking at acute and developmental outcomes in infants and young children with Duarte galactosemia. Acute and early developmental outcomes of children with Duarte galactosemia Judith L. Fridovich-Keil, et al https://doi.org/10.1002/jmd2.12267