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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

00:04:39

Shortcast: Glycogen storage disease type IIIa in...

JIMD Podcasts ·

2022/06/21

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

en

00:33:32

Lost in translation — Challenges in drug development...

JIMD Podcasts ·

2022/06/17

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

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00:16:33

Machine learning in newborn screening

JIMD Podcasts ·

2022/06/03

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

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00:47:38

Barth Syndrome (part 2): Screening, modelling and more

JIMD Podcasts ·

2022/05/20

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 minutes Dr Christophe Macao and Dr Jan Dudek, from 21:45 Dr Adam Chicco, from 31 minutes, 50

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00:13:35

Barth Syndrome (part 1): Disease overview and future...

JIMD Podcasts ·

2022/05/20

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 approaches for Barth syndrome Reid Thompson, et al https://doi.org/10.1002/jimd.12453

en

00:17:43

CDG or not CDG

JIMD Podcasts ·

2022/05/16

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

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00:06:20

Shortcast: High penetrance and recurrent attacks in a...

JIMD Podcasts ·

2022/05/10

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

en

00:18:06

Dentistry in Inherited Metabolic Disease

JIMD Podcasts ·

2022/05/06

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 paediatric dentistry Lorna Hirst, Anupam Chakrapani, Suhaym Mubeen https://doi.org/10.1002/jimd.12493

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00:05:19

Shortcast: Very long-chain acyl-CoA dehydrogenase...

JIMD Podcasts ·

2022/05/02

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

en

00:03:36

Shortcast: A serendipitous journey to a promoter...

JIMD Podcasts ·

2022/04/28

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

en

00:10:36

NGLY1 deficiency & epilepsy

JIMD Podcasts ·

2022/04/22

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

en

00:14:41

Molybdenum Cofactor Deficiency

JIMD Podcasts ·

2022/04/08

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

en

00:04:09

Shortcast: Chondroitin sulfate disaccharide as a...

JIMD Podcasts ·

2022/04/05

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

en

00:04:26

Shortcast: A mild phenotype of mitochondrial...

JIMD Podcasts ·

2022/04/01

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

en

00:26:28

Treatment In Alkaptonuria

JIMD Podcasts ·

2022/03/25

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 diet on body weight and serum tyrosine concentrations in patients with alkaptonuria Birgitta Olsson,

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00:07:27

Shortcast: Acute and early developmental outcomes of...

JIMD Podcasts ·

2022/03/15

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

en

00:13:05

Arginase Deficiency

JIMD Podcasts ·

2022/03/11

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 and safety profile of pegzilarginase in patients with arginase 1 deficiency George A. Diaz, et

en

00:03:09

Shortcast: Two siblings with galactose mutarotase...

JIMD Podcasts ·

2022/03/04

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

en

00:12:56

AAV-gene therapy in galactosemia patient fibroblasts

JIMD Podcasts ·

2022/02/25

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 classic galactosemia patient fibroblasts Megan L. Brophy, et al https://doi.org/10.1002/jimd.12468

en

00:20:36

Unravelling the Secrets Of PMM2-CDG

JIMD Podcasts ·

2022/02/11

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://doi.org/10.1002/jimd.12461

en

262 results

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