NCBRS SCIENTIFIC ADVISORY BOARD
As well as providing support to families, carers and professionals who work with people diagnosed with Nicolaides-Baraitser Syndrome, one of our other main areas is research into NCBRS. That is why the NCBRS Worldwide Foundation are excited to have formulated the very first Scientific Advisory Board (SAB) for Nicolaides-Baraitser Syndrome. The SAB will help the Foundation to fulfil its mission in advocating for scientific research that increases the medical knowledge of NCBRS and best treatments.
Where possible and where funds permit, the NCBRS Worldwide Foundation will fund appropriate research in order to improve the medical and scientific knowledge and promote understanding of NCBRS. It is through medical research that we will find new ways in which to better manage NCBRS and understand the condition.
Learn more about our Scientific Advisory Board below.
Where possible and where funds permit, the NCBRS Worldwide Foundation will fund appropriate research in order to improve the medical and scientific knowledge and promote understanding of NCBRS. It is through medical research that we will find new ways in which to better manage NCBRS and understand the condition.
Learn more about our Scientific Advisory Board below.
Dr. Paola Nicolaides - Consultant Paediatric Neurologist
Co-Chair Nicosia, Cyprus Paola Nicolaides is a Consultant Paediatric Neurologist and a Clinical Professor of Paediatric Neurology. Whilst working at Great Ormond Street Hospital in London, Paola and her colleague the neurogeneticist Michael Baraitser were the first to describe the characteristics of a patient with “Nicolaides Baraitser syndrome (NCBRS), and were later greatly honoured to have their name given to this unique syndrome. Since then, several families with NCBRS have consulted with her with their most charismatic and indeed very special children ! Paola currently works in Cyprus, she is the co-founder of the Cyprus Paediatric Neurology Institute (CPNI), and is currently based at the American Medical Center in Nicosia. She joined the Cyprus National Health System (GESY) in February 2020 and holds a critical clinical role as one of the few specialist paediatric neurologists in Cyprus. Paola completed her undergraduate and postgraduate paediatric and specialist training in the UK, obtaining the degree of MB ChB from Manchester University. She is a member and fellow of the Royal College of Paediatricians and Child Health, and holds the titles of MRCP, FRCPCH and specialist training status (CCT) in Paediatric Neurology in the UK. Paola holds strategic roles in the faculty of the University of Nicosia Medical School and as course director is actively involved in undergraduate teaching and curriculum development. She also holds a PgCert HBE from St George’s University of London Medical School. Paola maintains an active interest in research holding collaborative links with University College London (UCL), the Cyprus Institute of Neurology and Genetics (CING), and the University of Nicosia Medical School research programmes. She also supervises medical students in research projects and attends regular international and national conferences. As a member of the British Paediatric Neurology and the European Paediatric Neurology Society (EPNS) she is involved in research programme opportunities. She holds the role of Clinical National Advisor (CAN) for Paediatric Neurology in Europe through the EPNS and participates in regular international meetings. She is also an active member of the Paediatric and Neurology Societies in Cyprus. |
Dr. Carine de Marcos - Scientific Liaison Manager
Co-Chair Dundee, Scotland Dr. Carine de Marcos is currently working in the Drug Discovery Unit as a Scientific Liaison Manager for the Innovative Target portfolio (ITP). Within the DDU, she works with academics and pharmaceutical companies to identify future therapeutic targets and treatments, with a special focus on neurodegeneration, metabolic diseases and ageing. Before joining the DDU, she was a Reader in Cell Biology and Biochemistry with a focus on organelle biology and drug delivery. She is currently the Secretary for the British Society of Cell Biology, a Fellow of the Royal Society of Biology (FRSB) and a Senior Fellow of the Higher Education Academy (SFHEA). She is passionate about using her scientific expertise to help progress scientific discovery for the benefit of patients through foundations such as the NCBRS Worldwide Foundation. |
Nuala Ryan - BSc (Hons) Pharmacology
Chair of Trustees & SAB Member Dublin, Ireland Nuala is a mother of a child with NCBRS, so has day to day experience of the challenges the syndrome can cause for children with NCBRS and hence the areas of research that can help with this. Nuala has 30 years drug development experience, both in pre-clinical and clinical development of compounds across numerous indications and therapeutic areas globally. She has a BSc in Pharmacology, a Diploma in International Business Management and training in Patient Advocacy and Engagement through IPPOSI in Ireland along with their Educational partners (UCD, Trinity College and the HPRA). Nuala is also experienced in the management of numerous Public Private Partnerships in the EU, involving coordinating activities of up to 40 academic, pharma, technology and Patient Organisation groups working together to solve key health related issues, which include projects improving diagnosis of rare syndromes through genetic newborn screening (NBS) and through technology (artificial intelligence/machine learning). As well as being Chair of the Trustees for the NCBRS Worldwide Foundation, she serves on Steering Committees for multiple projects and initiatives such as: Genomics Data infrastructure Ireland, Future Neuro RCSI Governance Committee, Member of the Health Product Regulatory Authority (HPRA) Patient panel, Member of the Pharmacy Taskforce Ireland, Former Board member of Genomics Medicines Ireland among others. Nuala is committed to using her experience to further research into NCBRS and its related conditions. |
Dr. Chui Fung Chong - MD
Trustee & SAB Member Basel, Switzerland Dr Chui Fung CHONG is a veteran in drug development, currently a Senior Medical Director at Roche with a focus on immunology early development, aiming to transform patients' life suffering from autoimmune diseases, including IBD, lupus and respiratory areas with innovative medicines. Dr Chong previously served as the Gastroenterology Therapeutic Area Lead APAC at Takeda and Influenza Franchise APAC Regional Medical Expert at Sanofi Pasteur. She oversaw the development programs of more than 10 novel medicines and vaccines in GI diseases, influenza, anaesthesia and women's health. She is an accomplished scientific leader with regular presentation at congresses and a recipient of 3 awards of Poster of Distinction at Digestive Diseases Week and American Transplant Congress. She had advised 2 MedTech startups in the gastroenterology and respiratory areas. She also holds the role of Regional Director of Marketing for Healthcare Businesswomen’s Association Europe and is a member of European Women on Boards. Dr Chong received her M.D from University Putra Malaysia, her Diploma in Pharmaceutical Medicine from University Libre de Bruxelles and Master in Medical Physics from University Paris Descartes. She completed her post-graduate clinical practice in several tertiary hospitals in Malaysia. |
Dr. Stephanie Efthymiou - Biologist
SAB Member London, United Kingdom Dr Stephanie Efthymiou has graduated from Imperial College as a Biologist, and also spent a year in Lyon, France working on the pathogenesis of viruses like Ebola and Marburg. In 2014, she completed a Master’s degree in Molecular Biology and the Pathology of Viruses at Imperial College, where she developed a deep interest in understanding the molecular bases of disorders, such as the common flu caused by influenza virus. In 2015, she joined UCL Queen Square Institute of Neurology as a member of the Wellcome Trust Strategic Award for Synaptopathies. She aimed to identify the genetic basis of rare paroxysmal disorders and helped to establish the SYNAPS Patient Group which has collected over 30,000 patient samples to date. In 2020, she received her PhD in neurogenetics, under the supervision of Prof Henry Houlden and Dr Conceicao Bettencourt studying the genetic and functional basis of rare demyelinating neuropathies in children. She helped establish a genetic link for NFASC and NARS1 with early onset neurodevelopmental disorder. She continued with an ICGNMD Post-doctoral Research Fellowship under the supervision of Prof Michael Hanna, where is she currently working towards implementing and refining robust genetic testing protocols and ensuring smooth progress via careful sample and data curation. Her current research focus is studying the genetic basis of developmental delay, epileptic encephalopathies and malformations of cortical development, seen in patients from different ethnic groups. Next-generation sequencing technology together with deep phenotyping and functional animal studies are all important aspects of her research. Recently, she helped establish Optical Genome Mapping as a diagnostic test for FSHD and other repeat disorders at UCL. In parallel, she is very keen to help families affected by rare disorders and thus works very closely with patient groups. In the past 2 years, she has been involved with setting up the Rory Belle Foundation for NARS1 disease, important for building a patient community and driving treatment research and development. |
Jackelyn Golden Orabone - PhD
SAB Member Ohio, United States Jackie is a Scientific Director at ProEd Regulatory where she helps clients prepare for interactions with regulatory agencies by combining her scientific expertise and research knowledge in immunology with medical communications agency experience. Jackie has experience in a variety of therapeutic areas such as oncology, respiratory, and dermatology, and in products such as vaccines and targeted biologics. Jackie earned her PhD in Pathology (with a focus in Immunology) from Case Western Reserve University in Cleveland, Ohio, where she went on to complete a postdoctoral fellowship in genomics and bioinformatic techniques before joining ProEd Regulatory. Jackie lives in Cleveland, OH with her husband and two children. On a personal note, Jackie has the unique perspective of being a parent of a child diagnosed with NCBRS, as her son Henry was diagnosed in October 2023. |
Phyllis Reed
SAB Patient Advocate Member Toronto, Canada Phyllis is a wife and mother of two, including Michael with NCBRS. She was trained as a Developmental Service Worker and worked several years in the field. She has been active on the Paramed Patient/Family Advisory Council in Canada. She is a passionate advocate for her son, in every area of his life with a special interest in medical and health matters. She looks forward to working with the members of the NCBRS SAB to advance the medical knowledge of NCBRS and related conditions. |
Maria Chatzitheodorou
SAB Patient Advocate Member Athens, Greece Maria is a wife and mother of two, including Ioanna, daughter with NCBRS. After becoming a mother, Maria has been devoted to her family, trying to find out solutions and balances to through this very unique and rare journey of life. She is optimistic that by trying to find new paths of knowledge, hopefully we will manage to help as many people as possible. |