“East meets West”: SSIEM 2023 Annual Symposium at Jerusalem

Abstract

The 2023 Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM) was held in Jerusalem from August 29 to September 1, under the theme “East Meets West.” This gathering was a significant effort to bring together specialists from both Eastern and Western medical traditions, all united by a common goal: to enhance patient care globally by sharing knowledge, experiences, and practices in the field of inborn errors of metabolism (IEM). The symposium hosted more than 1500 participants from 64 different countries, offering a platform where experts could discuss and compare the challenges and innovations faced in different regions, whether they are in the East or the West. By transcending geographical boundaries, this event sought to create a more unified and effective approach to treating IEMs, ensuring that advances in one part of the world could benefit patients everywhere.

The plenary sessions at SSIEM 2023 reflected this commitment to global collaboration. In the session titled “Where East Meets West – Differential Expression of the Same Disease in Different Regions of the World,” participants explored how the manifestation of certain IEMs varies significantly across regions. Discussions included the higher prevalence of Neuronopathic Gaucher Disease in Eastern populations as opposed to the non-neuronopathic phenotype in the West,¹ the distinct phenotypes of dihydrolipoamide dehydrogenase deficiency in two Israeli populations,² and Citrin deficiency, which is common in the East but rare in the West.³ Citrin deficiency in the far east was also the topic of the SSIEM annual Garrod lecture. These case studies highlighted the importance of understanding regional genetic variations to improve diagnosis and treatment strategies.

Another session, “The State of the Mitochondria – Old Players, New Roles,” focused on mitochondrial diseases, revealing how new disorders involving inborn errors of vitamins B₃ and B₅⁴ are reshaping our understanding of mitochondrial function. The session underscored the critical role mitochondria play in various IEMs and how emerging research is uncovering new therapeutic targets.

In “Learning from the Neighbors,” the emphasis was on cross-disciplinary learning within the medical community. The session brought to light how pediatricians can learn from adult IEM cases,⁵ the vital role laboratory scientists play in advancing clinical care, and the integration of big data and machine learning in clinical decision-making. This exchange of knowledge among different medical disciplines is crucial for refining the art of metabolomics and enhancing patient outcomes.

The session on “The Complexity of Brain Traffic: New Insights from Neurometabolism” provided new perspectives on neurometabolic disorders. Discussions included inborn errors of cellular trafficking, nucleotide metabolism,⁶ and the discovery of novel biomarkers for CNS pathologies. These insights are expected to drive forward our understanding of how metabolic pathways affect brain function, particularly in neurodegenerative diseases.

“Where Big Data Meets Small Practices” addressed the challenges and opportunities of integrating next-generation technology with traditional clinical practices. The session highlighted the unexpected findings of newborn screening, such as the benign MCAD variant unique to the North African Jewish population, and discussed practical tools like IEMbase for in silico diagnosis. The conversation also touched on the disparities between small clinics in India and high-tech diagnostics, emphasizing the importance of accessibility in healthcare.

The session “Therapeutic Updates – Advances in Therapy Modalities” provided a comprehensive overview of the latest therapeutic developments in IEMs. The discussions covered the rise of antisense oligonucleotide therapies, advancements in gene therapy design, and the promising outcomes of mitochondrial augmentation therapy, including mitochondrial implantation as a potential treatment for patients.

A highlight of the conference was the 2023 Komrower Lecture, delivered by Viktor Kožich, which explored the dynamic evolution of homocystinuria over the past 30 years.⁷

The symposium also featured a high-quality Best Poster Competition, showcasing outstanding research contributions from emerging scientists. Additionally, the “Innovation in Research and Therapy” session highlighted groundbreaking work, including advancements in VLCAD/LCAD mouse models, the use of acetyl-L-leucine for Niemann-Pick C, the discovery of a new disease related to RCC1 deficiency, and promising new therapies for TMEM165-CDG and lysosomal storage diseases, including in utero enzyme replacement therapy.

In these times of division and strife, the symposium served as a poignant reminder of the need for unity and collaboration, especially in the field of rare diseases, where our collective knowledge and efforts are essential. The similarities and differences explored during the conference underscore the importance of continuing to work together, transcending borders and conflicts for the greater good.

The author declares no conflicts of interest.