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

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 diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Martina Huemer, et al (2016)

https://doi.org/10.1007/s10545-016-9991-4

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 approaches for Barth syndrome

Reid Thompson, et al

https://doi.org/10.1002/jimd.12453

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 seconds.

Featured papers:

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

Frédéric M. Vaz, et al

https://doi.org/10.1002/jimd.12425

Experimental models of Barth syndrome

William T. Pu

https://doi.org/10.1002/jimd.12423

Mechano-energetic aspects of Barth syndrome

Jan Dudek & Christoph Maack

https://doi.org/10.1002/jimd.12427

Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy

Kathryn C. Chatfield, et al

https://doi.org/10.1002/jimd.12459