Recent publications by HUGO Education Committee members (and key points)
Selected 2025 papers:
George P. Patrinos, Juergen K. V. Reichardt, Piero Carninci, Ada Hamosh, Christina Mitropoulou and Vasilis Vasiliou (2025) Human Genomics 19: 93.
- describes the forthcoming 2026 Human Genome Meeting, which will be held in Athens on 21-24 April, 2026.
- the major annual HUGO international conference
- click here to register
- it will include numerous stimulating scientific sessions on multiple cutting-edge topics (e.g. AI) in the field of genomics and their application to medicine.
- will also include: educational workshops, satellite events and a preceding day designed specifically for students, trainees and early-career scientists.
Developing global consensus about core knowledge and skills for genetic counselor education.
Alison McEwen, Kelly E. Ormond, Yasmin Cathcart-King, HUGO Genetic Counselling Education Sub-Committee and Milena Paneque (2025). Journal of Genetic Counselling. 34(5): e70116
- an agreed essential knowledge and skill set covering 25 core (and 11 optional region-specific) topics, for genetic counsellor (GC) education worldwide
- it covers: counseling and communication; genetics and genomics; medical knowledge; and skills and knoweldge for GC healthcare professionals
- is expected to be particularly useful in countries where such GC training is in development or is to be developed
- was generated by a worldwide, modified-Delphi consensus process, with global collaboration between HUGO Education Workgroup, the Transnational Alliance for Genetic Counselling (TAGC), European Board of Medical Genetics, GC Education Association and a comprehensive literature review.
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation.
Andreas Laner, Bin Alwi Zilfalil, Sherifa Ahmed Hamed, Huy Do, Iscia Lopes-Cendes, Tilak Shrestha, Edward Tobias, Angela Solano, Ada Hamosh, Dhavendra Kumar (2025). Annals of Human Genetics. 89(5):372-383.
- a review providing an overview of the development plus the context of the current highly sophisticated international DNA variant interpretation guidelines.
- documents the evolution of the classification system and the efforts made by the HUGO Education Committee to provide the necessary expertise for reliable variant classification worldwide.
- also suggests future strategies to overcome the current challenges in classifying variants of uncertain or unclear significance (VUS).
The European Certificate in Medical Genetics and Genomics (ECMGG).
Peter D. Turnpenny, Laura Pölsler, Ute Moog, Edward S. Tobias, Angela Peron, Susanne E. Boonen, Bonnie Lynch & Jonathan Berg (2025). European J of Human Genetics. 33: 1113–1120
- describes the development, format and European accreditation of the new international clinical examination (ECMGG) for clinical genetics specialists
- the authors developed and now run this examination annually, online.
- it comprises both multiple-choice and structured-oral-assessment sections.
- is recognised as the standard exam for clinical geneticists in a growing number of countries
- is open to candidates worldwide.
Educational case reports, illustrating the value of whole-exome DNA sequencing:
Pathogenic Variants in TUBGCP6 of Familial Microcephaly and Chorioretinopathy.
Sultana MH Faradz, Peter Ivan Hadiprajitno, Rina Susanti Chen, Muhamad Rifqy Setyanto, Sefri Noventi Sofia, Pujo Widodo, Nicole de Leeuw, Alexander P.A. Stegmann, Bregje W van Bon (2025). Journal of Health Science and Medical Research. Online.
- describes the detection of pathogenic TUBGCP6 gene variants, by whole exome sequencing, in microcephaly and chorioretinopathy type 1 (MCCRP1)
- it is an autosomal recessive syndrome characterized by severe microcephaly, facial dysmorphisms, chorioretinopathy, and developmental delay
- this is the first report of familial MCCRP1 in Indonesia
- compound heterozygous (splice-site and nonsense) variants were detected in two siblings with non-consanguineous parents
- TUBGCP6 encodes tubulin gamma complex component 6
SLK is mutated in individuals with a neurodevelopmental disorder
Lama Alabdi et al., including Sherifa A. Hamed as a member of the SYNaPS Study Group (2025). eBioMedicine Vol 116: 105725
- describes the detection by exome sequencing of biallelic variants in SLK in three patients, from separate families, with a neurodevelopmental disorder (NDD)
- the SLK gene encodes Ste20-like kinase (SLK)
- variant pathogenicity was investigated by analysis of synapse maturation and of locomotor defects in a Drosophila model
- abnormal cytoskeletal-mediated neuronal maturation is suggested as the underlying mechanism