JIMD Podcasts

Dr Manuel Schiff and Dr Clément Pontoizeau join us for the first JIMD Podcast on Maple Syrup Urine Disease, hi-lighting their recent successes treating a Bckdhb knock-out mouse model using gene therapy.

Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy

Clément Pontoizeau, et al

https://doi.org/10.1002/jimd.12604

Professor Sverre Sandberg joins the podcast to discuss recent work looking to establish key terms and definitions in the acute porphyrias, and explains how this will ultimately help bring forward treatment and research.

EPNet website: http://porphyria.eu

Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network

Penelope E. Stein, et al

https://doi.org/10.1002/jimd.12612

Dr Silvia Radenkovic, Professor Eva Morava and Professor Kent Lai join the podcast to discuss recent insights that may enable prognostication in PGM1-CDG, and a promising gene therapy study that could address the cardiomyopathy that remains untreated by Galactose therapy.

The role of PGM1 isoform 2 in PGM1-CDG: One step closer to genotype–phenotype correlation?

Silvia Radenkovic, et al

https://doi.org/10.1002/jimd.12601

Interested listeners may want to read gene therapy paper discussed herein:

https://doi.org/10.1016/j.trsl.2023.01.004

Dr Marne Hagemeijer joins the podcast to explain how mass spectrometry could simplify the approach to screening urine samples for evidence of Lysosomal Storage Disorders.

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Marne C. Hagemeijer, et al

https://doi.org/10.1002/jimd.12597

Professor Michel Polak reports success using a specialist preparation of oral glibenclamide in the management of neonatal diabetes in an extreme preterm infant subsequently found to have a KCNJ11 gene variant.

Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant

Alfonso Galderisi, et al

https://doi.org/10.1002/jmd2.12358

Dr Irene Chang and Dr An Dang Do explain how an infant presenting with cholestasis and liver disease kept them guessing, and how the abnormal biochemical findings gave them new insights into other conditions.

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation

An N. Dang Do, et al

https://doi.org/10.1002/jimd.12595

Dr RaeLynn Forsyth describes a pioneering patient who contributed to the evolution and understanding or Urea Cycle Disorder treatments throughout her life.

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem

RaeLynn Forsyth, et al

https://doi.org/10.1002/jmd2.12361

Dr Hana Alharbi, Dr Earnest James Paul Daniel, and Dr Andrew C. Edmondson join the podcast to talk about ATP6AP1-CDG and the potential for fractionated plasma N-glycan profiling.

Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association

Hana Alharbi, et al

https://doi.org/10.1002/jimd.12589

Dr Caoimhe Howard presents her teams' report of a young boy with MTFMT-related mitochondrial disease.

Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease

Caoimhe Howard, et al

https://doi.org/10.1002/jmd2.12355

This podcast, and the first paper, are dedicated to the memory of Dr. Nassim Shahrzad, an accomplished scientist with a bright future who was taken from her family, friends and colleagues much too soon. May the memory of her warm smile, collegial nature and devotion to her family serve as a source of comfort and inspiration to all those who knew her.

In this podcast we return to TANGO2-deficiency disorder to hear from Dr Michael Sacher, Dr Christina Miyake and Dr Samuel Mackenzie, on how research in a drosophila disease model correlates with insights from natural history studies on the role for B-complex vitamins in TDD.

Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells

Paria Asadi, et al

https://doi.org/10.1002/jimd.12579

B-complex vitamins for patients with TANGO2-deficiency disorder

Sarah E. Sandkuhler, et al

https://doi.org/10.1002/jimd.12585