Professor Jayesh Sheth shares 20 years of insights on diagnosing adult onset lysosomal storage disorders at a tertiary genetic centre in India.

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

Jayesh Sheth, et al

https://doi.org/10.1002/jmd2.12407

Dr David Bick, Dr Jim Bonham MBE and Henrietta Hopkins re-create a panel from the SSIEM Annual Meeting in 2022 to discuss the use of whole genome sequencing in NBS, asking "are we entering a new era of screening?"

Genomic newborn screening: Are we entering a new era of screening?

Ute Spiekerkoetter, et al

https://doi.org/10.1002/jimd.12650

Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy.

A case of hyperlysinemia identified by urine newborn screening

Mehdi Yeganeh, et al

https://doi.org/10.1002/jmd2.12399

The Journal of Inherited Metabolic Disease Editorial Committee come together to talk about the direction of metabolic medicine, the dangers and potential of AI, impact factors, reviewing papers and their publication hopes for 2024. There's also a little metabolic quiz, allowing you to pit your wits against the committee. Featuring: Shamima Rahman, Matthias Baumgartner, Verena Peters, Marc Patterson, Johannes Zschocke and Sean Froese.

Quo vadis now: Beyond genomics to an era of personalised medicine

Shamima Rahman, et al

https://doi.org/10.1002/jimd.12487

Risk and potential of ChatGPT in scientific publishing

Verena Peters, et al

https://doi.org/10.1002/jimd.12666

Blood spots are integral to disease monitoring in PKU, however, there are concerns regarding correlation between capillary and plasma levels and discrepancies arising based on sampling quality and storage. Dr Rachel Carling explains how a volumetric blood collection device presents a cost effective way to improve consistency and reduce rejected samples.

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices

Rachel S. Carling, et al

https://doi.org/10.1002/jmd2.12398

In our latest podcast, Antonia Ribes, Frederic Tort, and Gerard Muñoz-Pujol discuss CRISPR/Cas9 based technique for the validation of genetic variants requiring just the genetic data.

CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

Gerard Muñoz-Pujol, et al

https://doi.org/10.1002/jimd.12681

In the latest Shortcast, Jared J. Druss and Professors Nancy Potter and Judy Fridovich-Keil discuss grip strength in galactosemia (and how competitive boys can bias study results).

Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model

Jared J. Druss, et al

https://doi.org/10.1002/jimd.12684

Dr Dwight Koeberl joins the podcast to provide some background to gene therapies in Glycogen Storage Disorders, hi-light some ongoing studies and explain why we owe at least some of our knowledge to a menagerie of animal models.

Gene therapy for glycogen storage diseases

Dwight D. Koeberl, et al

https://doi.org/10.1002/jimd.12654

Dr Will Heath describes insights form screening data derived from 19 patients enrolled in a phase 1 study in late-onset Pompe disease.

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy

William B. Hannah, et al

https://doi.org/10.1002/jmd2.12391

In an ensemble piece, Dr Saskia Wortmann, Dr Hud Freeze, and Dr Santiago Ramón-Maiques discuss CAD deficiency and the challenge of finding new ways to validate genetic variants when pathogenicity seems uncertain.

Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

Francisco del Caño-Ochoa, et al

https://doi.org/10.1002/jimd.12667