JIMD Podcasts

Dr Katrin Õunap presents her group's recent work, the prevalence of inherited metabolic disorders in the Estonian population over 30 years: A significant increase during the study period.

The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period

Elis Tiivoja, et al

https://doi.org/10.1002/jmd2.12325

Dr Shanti Balasubramaniam and her team report a further case of a pathogenic, heterozygous, de novo variant in CTBP1 and discusses muscle biopsy findings in this disorder.

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

Wui-Kwan Wong, et al

https://doi.org/10.1002/jmd2.12326

Expanding on their recent editorial, Shamima Rahman, Eva Morava and Tamas Kozicz discuss the doxycycline paradox and why a medication previously thought to be toxic might present an avenue for treatment in some primary mitochondrial disorders.

The doxycycline paradox in primary mitochondrial diseases

Tamas Kozicz, Shamima Rahman, and Eva Morava

https://doi.org/10.1002/jimd.12531

Dr Sandra Sirrs returns to the podcast to discuss her work developing training competencies for adult metabolic medicine.

Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians

Sandra Sirrs, et al

https://doi.org/10.1002/jmd2.12312

The right tool for the job—Fit for purpose training programs in adult metabolic medicine

Annalisa Sechi, et al

https://doi.org/10.1002/jimd.12511

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 phenotypic correction through early adulthood in a rat model of classic galactosemia

Jennifer M. I. Daenzer, et al

https://doi.org/10.1002/jimd.12471

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 after the introduction of newborn screening in the Netherlands

Marit Schwantje, et al

https://doi.org/10.1002/jimd.12502

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

Marit Schwantje, et al

https://doi.org/10.1002/jimd.12503

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 and her team for their generosity in performing the functional assays.

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

Edwin P. Kirk, Martin B. Delatycki, Nigel Laing

https://doi.org/10.1002/jimd.12505

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