Emily Farran is Professor of Cognitive Development, at the University of Surrey, UK, and a member of the Centre for Educational Neuroscience, University of London, UK. Emily directs the Cognition, Genes & Developmental Variability Lab. Her research relates to cognitive development, with a specific emphasis on spatial cognition. The broad aim of her research is to characterise typical and atypical development of cognitive functions within the context of the developing brain. This involves analytical investigation of spatial performance in both small-scale (e.g. perception, mental imagery) and large-scale space (navigation and route learning abilities), and the relationship between spatial thinking and Science Technology Engineering and Maths (STEM). Emily works with primary school children and individuals with genetic syndromes. Emily has published over 100 journal articles and her research has been funded by the Economic and Social Research Council, the British Academy, the Leverhulme Trust, the Nuffield Foundation, the Wellcome Trust, the Education Endowment Fund, the Waterloo Foundation, Autour des Williams, the Williams Syndrome Foundation, and Fondation Jerome Lejeune.
Professor Vivi Heine is full professor of Human Model Systems at the Emma Children’s Hospital and board member of the Emma Center for Personalized Medicine (EmmaCPM) and Dutch Society for Human Genetics (NVHG). She studies the pathophysiology of developmental brain disorders by considering a glial component. For long research was focused on neurons, while glia dysfunction is increasing been shown to contribute to various neurological disorders. Her research centers around induced pluripotent stem cell (iPSC) technology and disease models from patients with genetic neurodevelopmental disorders, including Tuberous Sclerosis Complex (TSC), Rett syndrome, GRIN2B, Schizophrenia, and the brain white matter disorders 4H syndrome and Adrenoleukodystrophy (ALD). Her lab optimized procedures to generate human 2D or 3D iPSC-derived neuron-glia co-cultures and organoid models that are functionally characterized by advanced microscopy, electrophysiology, proteomics and/or high content cellular screening. She performed ground studies that identified how neuron-glia interactions contribute to brain network dysfunctions in these neurodevelopmental disorders.
Mirthe Klein Haneveld is a medical doctor, care ethicist, and epidemiologist in training. She currently works as a PhD candidate and genetic counsellor at Amsterdam University Medical Hospitals. Her research focuses on developing clinical practice guidelines for rare genetic conditions associated with intellectual disability. She aims to address the unique methodological challenges imposed by rare diseases, while strengthening partnerships with individuals and families living with these conditions. This work is part of the European Reference Network ITHACA, which supports rare malformation syndromes and neurodevelopmental disorders.
Dr. Lotte Haverman is a clinical pediatric psychologist by training and head of the research group PROMs & pediatric psychology at the Emma Children’s Hospital, Amsterdam UMC. She specializes in integrating Patient-Reported Outcome Measures (PROMs) into routine clinical care (pediatric and adult care) to enhance patient-centered approaches. Dr. Haverman led the development and implementation of the KLIK PROM portal, now utilized in over 40 Dutch hospitals, facilitating systematic monitoring of Patient Reported Outcomes. Her research emphasizes patient engagement. Additionally, she focuses on developing PROMs, studying psychometrics and creating core PROM sets for vulnerable individuals (e.g. communication disabilities or genetic intellectual disabilities), aiming to standardize patient-centered outcomes in rare diseases.
Therese van Amelsvoort is professor of Transitional Psychiatry and consultant Psychiatrist at Maastricht UMC. After finishing her medical studies in Rotterdam (1991), she worked as a medical and scientific advisor in Basel (Switzerland, 1991-1993) and as a resident in psychiatry in Luxemburg (1993-1994). Subsequently, she trained as an academic psychiatrist at The Maudsley Hospital / Institute of Psychiatry in London (UK, 1994-2001). She has had a longstanding interest in neurobiological mechanisms underlying psychosis and neurodevelopmental disorders, in particularly 22q11DS. She obtained her PhD on 22q11DS in 2004 at the University of Amsterdam. Since 2012 she is working at The Department of Psychiatry and Psychology at Maastricht University Medical Centre, running the Dutch adult 22q11DS clinic and with a special focus on the transition from adolescence to adulthood in both her clinical and academic work. She is co-founder of @ease, the Dutch variant of the successful Australian Headspace, an innovative youth mental health service.
Peter van de Ven is a biostatistician and associate professor of clinical trial methodology at the University Medical Center Utrecht (UMCU) where he leads the Clinical Trial Methodology & Statistical Consultation team. His research focusses on innovations in clinical trial methodology that help make trials more efficient, such as applications of Bayesian methods in trials and adaptive trials. As a statistical consultant at UMCU and Amsterdam UMC, he advised on the design and statistical analysis for trials in several rare diseases and conditions, including trials for treating behavioral manifestations in Smith-Magenis syndrome, Fragile X Syndrome and Tuberous Sclerosis Complex. He was a member of the N-of-1 for all consortium that focused on N-of-1 trials in metabolic diseases. Besides being an associate professor at UMCU, he is a seconded methodology assessor for the Dutch Medicines Evaluation Board (CBG-MEB).
Marianne van den Bree is a Professor of Psychological Medicine within the Division of Psychological Medicine and Clinical Neurosciences and the Neuroscience and Mental Health Innovation Institute at Cardiff University. She has a background in psychology, human genetics, and epidemiology. She studied in the Netherlands (BSc and MSc) and USA (PhD). She leads the RarE GenetiC Variant ResearcH PrOgramme (ECHO; https://www.cardiff.ac.uk/centre-neuropsychiatric-genetics-genomics/research/themes/developmental-psychiatry/copy-number-variant-research-group) at Cardiff University. This longitudinal programme has recruited and assessed >3,000 children and young people with mutations linked to high risk of neurodevelopmental and psychiatric conditions as well as unaffected siblings and parents. It combines detailed and wide-ranging phenotyping throughout childhood, adolescence and adulthood with neuro-imaging, and genetic and pharmacological studies.
She also directs the LIfespaN multimorbidity research Collaborative (LINC; https://www.cardiff.ac.uk/lifespan-multimorbidity-research-collaborative/people), an international programme investigating the role of rare and common genetic factors in the development of physical and mental health multimorbidity across the lifespan in eight longitudinal population-based cohorts (aggregate n~7M).
She is furthermore a key investigator within a number of other national and international consortia, including IMAGINE-ID (https://imagine-id.org/) and Genes to Mental Health (G2MH; https://genes2mentalhealth.com/about/g2mh/) and a member of Advisory Panels such as the Cleft Collective cohort at Bristol University.
Prof. Mieke van Haelst was trained as a clinical genetics at Erasmus MC, Rotterdam and Great Ormond Street Hospital, London, UK. She has worked as a clinical geneticist at Guy’s & St Thomas’ hospital and Northwick Park hospital, London and UMC Utrecht before she started working as head of Clinical Genetics and board member of the Department of Human Genetics.
Her clinical and translational research focusses on the identification of (novel) gene defects and unravelling the pathogenicity obesity-related disorders. As co-director of Emma Center for Personalized Medicine at Amsterdam UMC, she works on the identification and understanding of causal (epi)genetic factors that result in rare diseases. She integrates knowledge and methods of diverse disciplines to accelerate the development of personal treatment for rare genetic disorders. She has established genetic clinics, research and education programs at the pediatric departments in the Dutch Caribbean and aims to provide equal genetic care for diverse populations.
Jan-Paul Wagenaar is the chair of the Dutch TSC-patient advocacy group ‘Stichting Tubereuze Sclerosis Nederland’ (STSN). He joined the board of the STSN in 2005 and was responsible for fund raising and financial accountability. In 2013 he became chair of the STSN. In 2026 the STSN will celebrate its 45th anniversary. After decades of successful activities and fruitful cooperation with the Dutch network of TSC-experts, being involved in various research initiatives, the STSN has to reset its priorities and targets. Making the STSN, an advocacy group of a rare disease run by volunteers only, ready for the future is a real challenge. Jan-Paul has witnessed great steps forward in the diagnosis and care of TSC and the growing awareness of the importance of behavioral aspects associated with TSC. But there are still many things to be improved. Finding ways to increase the perspective of parents and caretakers to deal with the 24/7 task to improve the living quality of people with TSC is the focus of the STSN for the years to come. Jan-Paul has a son of 24 with TSC. In his day to day life he works in agricultural research in the Netherlands.
Janneke Zinkstok is a child, adolescent and adult psychiatrist, and associate clinical professor at the Radboud university medical center and at Karakter child and adolescent psychiatry Nijmegen, the Netherlands. She partially trained at the Institute of Psychiatry and Maudsley Hospital in London where she specialized in autism and ADHD in adults. Her clinical expertise is in assessment and management of mental illness in people with intellectual disabilities and genetic syndromes. Her research focuses on 1) clinical research aimed at behavioral phenotyping of specific syndromes including 22q11 deletion syndrome, Smith Magenis syndrome and Dravet syndrome; and 2) research aimed at exploring experiences and needs of patients and families, with the overall aim to empower families coping with neurodevelopmental conditions. She initiated a tool facilitating matched individual peer support for parents caring for children (of all ages) with developmental conditions in the Netherlands. She is passionate about continuously bringing patient and family perspectives to the forefront and to integrate their views with a view to organizing and delivering the best clinical care, always with a life span perspective. Her research is published in international peer reviewed journals. She firmly believes in team science and invests in mentoring and coaching students and junior doctors in her team.
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The Society for the Study of Behavioural Phenotypes (SSBP) is an international, interdisciplinary research society for studying the development, learning and behaviours of individuals with genetic disorders and ways of helping to improve lives. The society is registered as a charity in the UK (No. 1013849) and was set up in 1987.
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