Medical Advisory Board

Prof. Yuri A. Zarate, MD, MBA

Chief of the Division of Pediatric Genetics and Metabolism at Kentucky Children’s Hospital, USA

Prof. Zarate is a distinguished clinical geneticist and professor of pediatrics at the University of Kentucky and also holds a faculty appointment at the University of Arkansas for Medical Sciences, where he has led clinical activities at Arkansas Children’s Hospital since 2013. With over 20 years of experience, Dr. Zarate specializes in the diagnosis and management of rare genetic conditions and is director of the only SAS-specific clinic in the United States. His current research includes pediatric metabolic disorders and genotype-phenotype correlations. Dr. Zarate is deeply committed to supporting families and works closely with patient advocacy groups to ensure that research and clinical care remain patient-cantered. Known for his prompt responses and unwavering dedication, he is a trusted partner to families navigating the challenges of rare genetic diagnoses.

Dr. Lot Snijders Blok, MD, PhD

Radboud University Nijmegen Medical Centre, The Netherlands

Dr. Lot Snijders Blok is a clinical geneticist and postdoctoral researcher specialized in the genetic basis of developmental disorders, with a particular focus on the identification of new rare disorders caused by de novo variants. In her PhD research, she studied monogenic causes of developmental speech and language disorders, and as part of this research she coordinated a study on speech and language skills in individuals with SAS. Lot is also an integral member of the Expert Center for Rare Diseases, including SATB2-associated syndrome, at the Radboud University Medical Cente. Beyond her clinical and research roles, she actively engages with patients and families to foster collaboration and provide valuable insights.

Assoc. Prof. Damjan Osredkar, MD, PhD

Head of the Department for Pediatric Neurology at the University Children’s Hospital in Ljubljana, Slovenia

Assoc. Prof. Damjan Osredkar, MD, PhD is the head of the Pediatric neurology department of the University Children’s Hospital in Ljubljana, Slovenia. He also leads the multidisciplinary team treating children with NMD. Assoc. Prof. Osredkar received his degree at the University of Ljubljana in 1999 and his PhD in 2006. He has been awarded with Fulbright Scholarship in 2006 and has worked as a postdoctoral fellow at the University of California San Francisco, USA (2007-2009) and University of Oslo, Norway (2012-2014). His areas of interest include Neuromuscular diseases, Novel treatment options, Gene Therapy, Hypoxic-Ischemic Brain Injury, Neuroprotective treatment.

Prof. Caroline Richards, PhD

Professor of Neurodevelopmental Conditions & Clinical Psychologist, School of Psychology, University of Birmingham, UK

Professor Richards' research aims to reduce adverse clinical outcomes in individuals with neurodevelopmental disorders. Her work - primarily focused on children with autism and those with rare genetic syndromes - targets key challenges such as self-injury, sleep disturbances, and the developmental impact of premature birth. Employing a range of methodologies including experimental, epidemiological, single-case, and meta-analytic approaches, she seeks to identify risk markers, refine mechanistic models, and develop proactive, precision-based interventions. Professor Richards collaborates closely with the Cerebra Network for Neurodevelopmental Disorders, with ongoing projects centered on conditions such as SAS.

Prof. Susan Parekh, MDS, PhD

University College London, EDI Craniofacial & Development Sci, MDC for SAS in London, UK

Prof. Susan Parekh is a Consultant and Clinical Lecturer in Paediatric Dentistry at UCL Eastman Dental Institute. She has extensive expertise in managing dental anomalies and enamel defects in children and leads the MSc Paediatric Dentistry programme at UCL. She is responsible for dental care and consultations for SAS patients at MDC in London.

Her research focuses on diagnostic innovations and clinical decision-making in paediatric dental care. Dr. Parekh is a Senior Fellow of the Higher Education Academy and a Fellow of the Royal College of Surgeons.

Dr. Barber Tinselboer, MD

Specialist in Intellectual Disability Medicine at Heeren Loo in Apeldoorn, an organization that provides care, services and treatment for people with ID, The Netherlands

Dr. Barber Tinselboer is a mother of boy with SAS and also a medical doctor specializing in intellectual and developmental disabilities. With over 15 years of experience, Dr. Tinselboer works in multidisciplinary teams to assess and support individuals with complex needs, including autism and behavioral challenges. Known for a compassionate, family-centered approach, Dr. Tinselboer combines clinical expertise with a strong commitment to inclusive, personalized care.

Dr. Ann Malmenholt, PhD

Karolinska Institutet & Karolinska University Hospital, Stockholm Sweden
Speech Language Pathology

Ann Malmenholt is a clinical speech-language pathologist who treats and studies children with childhood apraxia of speech, with or without cleft palate (including individuals with SAS), with a primary focus on motor speech. Her research focuses on Speech and Language Pathology, Phonology, and Phonetics, with a special emphasis on children and teenagers with severe motor speech disorders and comorbid neurodevelopmental conditions.
Her work aims to improve the ecological validity of treatment outcomes in clinical practice.