Editorial Board

Dr Huw Dorkins University of Oxford Oxford, UK orcid.org/0000-0001-8421-9939 Huw Dorkins, FRCP FRCPath, is a clinical geneticist. His academic base is at the University of Oxford, where he Fellow & Tutor in Medicine at St Peter’s College. His clinical work is with the Leicestershire Genetics Service, Leicester, UK. His interests are in the areas of cancer genetics, neurogenetics and genetics education. Declaration of Interests, see here

Expertise: pediatric neuro-oncology, cancer genetics, epigenetics, oncohistones Competing Interests >>

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Dr Nada Jabado McGill University Montreal, Canada orcid.org/0000-0003-2485-3692

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Expertise: immunology, endocrinology, endocrine system drugs, molecular genetics, metabolic disorders Competing interests >>

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Professor Constantin Polychronakos McGill University Montreal, Canada orcid.org/0000-0002-7624-6635

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Expertise: diabetes, genomics, genetics, bioinformatics Competing Interests >>

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Dr Hui-Qi Qu Children’s Hospital of Philadelphia Philadelphia, USA orcid.org/0000-0001-9317-4488 Hui-Qi Qu, MB, PhD, is a Principal Scientist at the Center for Applied Genomics at the Children’s Hospital of Philadelphia, US. With a physician background in internal medicine, his research focuses on genetics and precision medicine. His contributions include identifying Type 1 Diabetes loci and driving genomic research in complex diseases.

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Expertise: Paediatric genetics, clinical dysmorphology, skeletal dysplasias, primary lymphoedema, vascular malformations, ataxia-telangiectasia and related disorders Competing Interests >>

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Dr Mohnish Suri Nottingham Clinical Genetics Service Nottingham, UK orcid.org/0000-0001-9037-701X

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Expertise: clinical, molecular and functional neurogenetics particularly: neurodegenerative diseases, movement disorders, congenital brain malformations, ciliopathies and pediatric ataxias Competing Interests >>

Professor Enza-Maria Valente University of Pavia Rome, Italy orcid.org/0000-0002-0600-6820 Dr Valente is Full Professor of Medical Genetics at University of Pavia and Head of Neurogenetics Research Center at the IRCCS Mondino Foundation, in Pavia, Italy. Her main research interest is Parkinson Disease (PD) genetics. Over the years, she contributed knowledge on the mutational spectrum, phenotypes and molecular functions of several PD-genes, with focus on PINK1, GBA and SNCA. She coordinates the Italian National Virtual Institute of Parkinson Disease, and is a member of the Scientific Committee and Monogenic Network of ASAP Global Parkinson’s Genetic Program (GP2).

Expertise: Clinical genetics, molecular oncology, rare genetic diseases, bioinformatics and genetics education

Rita Barbosa-Matos, BSc, MSc i3s - Institute for Research and Innovation in Health Porto, Portugal orcid.org/0000-0003-0794-4912 Rita Barbosa-Matos, who holds a PhD in Molecular and Cellular Biotechnology Applied to Health Sciences, specializes in rare tumour risk syndromes with a focus on translational applications for cancer prevention and clinical care. Her research emphasizes studying genetic modifiers of disease lifetime risks and developing patient-derived models using induced pluripotent stem cells (iPSCs) and organoids. Currently, she works with families affected by Hereditary Diffuse Gastric Cancer (HDGC). She is also an active contributor to the scientific community, serving as a member of the Education and Young Representatives Committees of the European Society of Human Genetics, and the Communication Committee of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.