JIMD Podcasts

Dr Gabriella Horvath returns for her second visit to the podcast, joining Eva Morava to discuss psychiatric presentations of Inherited Metabolic Disease.

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.02.007

Find IMDs associated with psychiatric presentations at: http://iembase.org/gamuts/store/docs/Psychiatric_IMD_gamuts.pdf

In this Shortcast Antonio Ochoa-Ferraro and Dr Charlotte Dawson share their experience using the medication Volanesorsen with two pregnant women diagnosed with familial chylomicronemia syndrome.

Two successful pregnancies in patients taking Volanesorsen for familial chylomicronemia syndrome

Subadra Wanninayake, et al

https://doi.org/10.1002/jmd2.12435

In the latest podcast, Dr Lourdes Desviat provides an overview of the different RNA based therapeutic approaches including how they work and which are showing promise for the management of Urea Cycle Disorders.

Exploring RNA therapeutics for urea cycle disorders

Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R. Desviat

https://doi.org/10.1002/jimd.12807

Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype.

Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning

van den Dorpel, et al

https://doi.org/10.1002/jimd.12736

Callie Ferguson discusses her group's care for a young woman with FBPase deficiency during pregnancy and beyond.

Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency

Callie Ferguson, Anita Madison, Ada Hamosh, Celide Koerner

https://doi.org/10.1002/jmd2.12453

Professor Shamima Rahman and Dr Nandaki Keshavan take us on a whistle stop tour of the different approaches taken to gene therapy in mitochondrial disease and why some may work better than others.

Gene therapy for mitochondrial disorders

Nandaki Keshavan, Michal Minczuk, Carlo Viscomi, Shamima Rahman

https://doi.org/10.1002/jimd.12699

Olivia Garrett, Jared Druss, Estela Rubio-Gozalbo, Gerard Berry, and Judith Fridovich-Keil discuss outcomes in classic galactosemia drawn from patient surveys of 92 adults.

Health and well-being of maturing adults with classic galactosemia

Olivia S. Garrett, Jared J. Druss, E. Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Patricia E. Greenstein, Anna Bauer, Jolanta Sykut-Cegielska, Karolina M. Stepien, Cameron Arbuckle, Olga Grafakou, Uta Meyer, Nele Vanhoutvin, Adriana Pané, Annet M. Bosch, Estela Rubio-Gozalbo, Gerard T. Berry, Judith L. Fridovich-Keil

https://doi.org/10.1002/jimd.12786

Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation.

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290

Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf

Originally presented at the SSIEM 2023 Annual Symposium, Dr Ozlem Goker-Alpan discusses neuronopathic gaucher disease, regional variations and hopes for new treatments.

Neuronopathic Gaucher disease: Rare in the West, common in the East

Ozlem Goker-Alpan, Margarita M. Ivanova

https://doi.org/10.1002/jimd.12749

Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis.

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

Melanie B. Gillingham, et al

https://doi.org/10.1002/jimd.12738