BETTER People

People of the Project

This page shows all the active people in the BETTER project listed per company. They all contribute to the success!

Michele Compare – CTO at Datrix with expertise in AI governance, data management, and EU-funded projects. #AI #DataManagement #NuclearEngineering #SoftwareDevelopment #ProjectCoordination

Marika Savarese – Project and Customer Relationship Manager with expertise in data analysis, chemistry modeling, and EU initiatives. #ProjectManagement #DataAnalysis #Chemistry #GrowthHacking #DigitalTransformation

Andrea Masella - Data scientist at Datrix with focus on medical imaging and genomics #MachineLearning #ComputerVision #A.I. #SoftwareDevelopment #BigData #CloudArchitect #LLM

Elia Broggio - Data scientist at Datrix with focus on medical imaging and genomics. #MachineLearning #ComputerVision #AI #SoftwareDevelopment #BigData #CloudArchitect #LLM

Yuliia Sobko – IT and Data Project Manager with expertise in project coordination, stakeholder management, and multilingual communication. #ProjectManagement #DataAnalysis #IT #Multilingual #EUProjects

Kim Gammelgaard - CEO - Experienced Project Manager, Key Account Manager, Team Leader, and IT Solution Architect. He has more than 20 years of experience in the IT business, including executing, managing and supervising projects, delivering and selling IT development, operations, products as well as being team leader for more than a decade. He is also member of the The Danish ICT Industry Association IT Security Committee. Former and current tasks: CEO at Rheasoft ApS, Key Account Manager and Solution Architect at CloudPartners, Development domain, team leader and project manager at TDC, the Danish telco, for the GIS/network infrastructure area. In his career, he has been working on and with international projects for more than 35 years. He won the silver in the Michigan Science Olympics computer programming competition in 1983 but wanted to open his world view before starting an IT career, so he became Bachelor of Philosophy at Aarhus University, before going back to the IT business in 1998.

Line Thorsen Sieg - Chief Marketing Officer - MA in International Business Communication in Corporate Communication, (Aarhus University, 2020). She handles a broad variety of tasks within the field of communication. From user testing and user behavior to documentation, useability, internal and external communication, and stakeholder relations.

Peter Alfred Østergaard - Senior IT Architect and developer - M.Sc. in computer science, Aarhus University, 1991, Senior IT Cloud Developer and Architect. Latest larger achievements: Solution architect and developer for visualisation and cloud integration of the CS-aware project. Currently doing Oracle integration works, and recently also heavily involved in a new single sign on system for TDC, the Danish Telco. Also, recently solution architect and developer in a cloud-based serverless enterprise mediation layer for Philips in the Netherlands. 30 years of development experience

Jane Vilhelmsen - Senior Developer - 25 years of experience with system development; analysis, design, programming, and testing. Latest achievements: developing systems to handling funds, from application to handling approved grants. Primarily within cancer research.

Dr Ana Grönke - Project coordinator / Data Steward / Research Officer at University of Cologne. Experienced Postdoctoral Researcher with a demonstrated history of working in the research industry. Skilled in Genetics, DNA/RNA Sequencing, Biotechnology, Cell Culture, Microscopy and Life Sciences. Strong research professional with a Master's degree in plant physiology and genetics (master degree), PhD degree in Medical Sciences, and postdoctoral work focused on mitochondrial dysfunction in human diseases. Significant experience in leading international multidisciplinary teams and managing small teams.

Professor Dr Stephan Bender - Director of the Cologne Clinic and Polyclinic for Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy.

Dr. Pamela Roland - child and adolescent psychotherapist with a focus on behavioral therapy. She is responsible for the outpatient department for autism spectrum disorders at the Clinic and Polyclinic for Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy in Cologne. There she leads diagnostics as well as therapy groups for children and adolescents with autism spectrum disorders and their parents. Ms. Roland wrote her doctoral thesis on the evaluation of the autism parent group training "THAU", which is currently being manualized.

Marcel Welzenbach - Mr. Welzenbach treats patients in the UKK Children and adolescent psychiatry and psychotherapy outpatient clinic. Here he sees children and adolescents with various difficulties and symptoms. He has experience with the treatment of emergencies such as suicidal crises, including people with ASD with high level of self-harming.

Mehrshad Jaberansary - graduated with a Bachelor's degree in Computer Science. He furthered his studies by obtaining a Master's degree in Data Science at RWTH Aachen, where he engaged with federated learning. Following his studies, Mehrshad joined PADME's Research and Development team. He is collaborating with the data integration center at Uniklinik Köln and the Biomedical Informatics Institute at the University of Cologne. He is involved in various projects, including BETTER, PrivateAIM, FAIRDS which focus on advancing data science applications in healthcare and biomedical research.

Oussama Zoubia - Master's degree in Artificial Intelligence from the University of Batna 2 in Algeria, where he specialized in Computer Vision and graduated in 2020. He is currently deepening his knowledge in this field with a second Master's degree in Data Analysis in Hildesheim. With a solid background in software engineering and data science, Oussama has worked on Fair Data Spaces and Fair Digital Objects. Since April 2023, he has been employed as a research assistant at the University Hospital of Cologne, where he brings his skills and experience to the field of data-driven research.

Dr Adamantios Koumpis - Research and Teaching Officer at the Institute of Biomedical Informatics of the University Hospital Cologne. He carries several years of experience in research planning and management in the areas of, amongst others, e-Health and e-government services, accessibility, Human-Computer and Human-Robot Interaction. He has extensive teaching experience in a variety of institutions, orientation and disciplines (business, technology, science) at undergraduate and postgraduate levels.

André Dekker - Professor, Maastro & Maastricht University & Maastricht UMC+. His research focuses on three main areas: building global FAIR data sharing infrastructures; using AI to learn health state prediction models from this data; applying AI driven prediction models to improve health He works in oncology, cardiology, bowel disease, physiotherapy, diabetes and Alzheimer’s. One of his and his team’s scientific breakthroughs has been the development of a FAIR data sharing and federated learning infrastructure that does not require data to leave the hospital - called the Personal Health Train (www.personalhealthtrain.nl). This has reduced many of the ethical and other barriers to share health data. They have shown this approach works in many cancer centers worldwide. André is a full professor of Clinical Data Science and board certified Medical Physicist. His previous positions include Manager of Research and Education, head of IT and head of Medical Physics.

Johan van Soest - He is an assistant professor working at the Brightlands Institute for Smart Society (BISS) of Maastricht University, and the Clinical Data Science research group. His background is in Medical Informatics (MSc) and Clinical Data Science in Radiotherapy (PhD).His research is in the IT domain of (clinical) data science. Specifically, software to make (healthcare) data FAIR (Findable, Accessible, Interoperable, Reusable) with proper access rights, methods for an ELSA (Ethical, Legal, Societal aspects) aware data science lifecycle, and privacy enhanced technologies (PET) for data science. This comprises (among others) the Personal Health Train, as a paradigm shift in analyzing (healthcare) data.

Aiara Lobo Gomes - She is a postdoctoral researcher working on making routine healthcare data useful for improving patient care. Her research interests include semantic modelling, FAIR data, and federated learning. She has a background in Physics and Astrophysics and obtained her Bachelor and Master degrees from University of Sao Paulo (2009, 2012) and PhD degree from Heidelberg University (2015). She transitioned to Data Science in 2017 and worked in industry for some time, returning to academic research in 2021, when she joined the Clinical Data Science group.

ANNA BERNASCONI - Assistant Professor (RTDA) at Politecnico di Milano. She received the B.S. degree in Mathematical Engineering in 2012 and the M.S. degree in Computer Engineering in 2015, both from the Politecnico di Milano. She has a Master in Computer Science from the University of Illinois at Chicago. After 2-years experience in Business Intelligence consulting, she pursued the Ph.D. degree (cum laude) in Information Technology from Politecnico di Milano, advised by Prof. Stefano Ceri and Alessandro Campi, defending the thesis "Model, Integrate, Search... Repeat: a Sound Approach to Building Integrated Repositories of Genomic Data" in 2021, winning the Dimitris N. Chorafas Foundation Award 2021, as well as the "Best Ph.D. thesis award on Big Data & Data Science" from the CINI Big Data Lab and the CAiSE PhD Award. She was postdoctoral researcher at Politecnico di Milano during 2021 and 2022 and visiting researcher at Universitat Politecnica de Valencia from January to June 2022. Her research interests lie at the intersection of Bioinformatics, Databases, and Data Science Methods, where she applies conceptual modeling, data integration, and knowledge engineering in several life sciences and other applied sciences domains, with a focus on building open-source tools and services. She authored more than 30 journal papers and 30 conference/workshop proceedings papers, as well as 10 book chapters. She collaborates with several scholars from other national and international institutions; she is Principal Investigator of the MUR PRIN PNRR 2022 project SENSIBLE (Small-data Early warNing System for viral pathogens In puBLic hEalth, 2023-2025) and of the EU-funded NGI Search project TETYS (Topics Evolution That You See, 2023-2024). She is involved as Task leader in the Horizon Europe BETTER project (2023-2027) and in the NextGenerationEU program FAIR project (Future Artificial Intelligence Research, 2023-2025). Previously, she was WP leader in the GeCo (data-driven Genomic Computing) ERC Advanced Grant project (2016-2021) led by Prof. Stefano Ceri, and she was Task leader in the EIT Digital "Data against COVID-19" Innovation Activity 'Virusurf' (2020). She actively engages with the conceptual modeling, database, and bioinformatics research communities with several paper presentations, Programme Committees service, commitment as Program Chair, organization of two tutorials (ER and EDBT conferences), and two workshops on conceptual models and web applications for life sciences (ER and ICWE conferences). She is an academic editor in Plos One and BMC Bioinformatics, for which she also organized supplement issues and guest edited collections.

CINZIA CAPPIELLO - Associate Professor at the Dipartimento di Elettronica, Informazione e Bioingegneria of Politecnico di Milano, from which she holds a Ph.D. in Information Technology (2005) and a M.Sc. in Computer Engineering (2001). Her research focuses on Data and Information Quality, Data Architecture and Management. In particular, she contributed to the assessment and improvement of data quality in the context of Big Data, crowdsourcing, service-based and Web applications, stream data.

STEFANO CERI - Professor of Database Systems at the Dipartimento di Elettronica, Informazione e Bioingegneria (DEIB) of Politecnico di Milano. Prof. Ceri was visiting professor at the Computer Science Department of Stanford University (1983-1990) and he was the chairman of the Computer Science Section of DEI (1992-2004), and the chairman of LaureaOnLIne, a fully online curriculum in Computer Engineering (2004-2008). Stefano Ceri was one of the creators (2004-2007), then vice-director (2007-2010) and then director of Alta Scuola Politecnica, the school of excellence for top-level master students selected from Engineering, Architecture, and Design Faculties of Politecnico di Milano and Politecnico di Torino (October 2010 – September 2013). He was associate editor of ACM-Transactions on Database Systems and IEEE-Transactions on Software Engineering, and he currently is an associated editor of several international journals. He is co-editor in chief (with Mike Carey) of the book series “Data Centric Systems and Applications”(Springer-Verlag), which now includes about 25 books. He is the recipient of the ACM-SIGMOD “Edward T. Codd Innovation Award” (New York, June 26, 2013). I am an ACM Fellow (2013) and a member of Academia Europaea (since 2011). Prof. Ceri is a member of the Academia Lombarda di Scienze e Lettere (since 2019), a nominator for the Japan Price (since 2015) and VinFuture Price (since 2023). He is the co-founder of the Extending Data Base Technology (EDBT) Endowment; has been the General Chair of the first EDBT Conference, which took place in Venice in 1988; he has also been a member, for twelve years, of the VLDB Endowment, and general PC chairman of VLDB 2001 in Roma. He has been regularly on the PCs of VLDB, SIGMOD, ICDE, EDBT conferences. He is a member of the ACM-SIGMOD Award Committee. He was a member of the Executive Committee of LIFC-Lombardia (Lega Italiana Fibrosi Cistica (April 2013 – April 2019). Throighout his life, he has done voluntary research and supported irganizations at the local (Palo Alto association, LIFC-Lombardy), national (LIFC Italy, Fondazione Gibrosi Cistica, Cystic Fibrosis Foundation), and European level to help fighting cystic fibrosis. He developed and distributed world-wide several Cystic Fibrosis Data Base prototypes (since 1986, work with Warren Worwick, MD).

PIETRO PINOLI - Senior Assistant Professors at the Department of Electronics, Information and Bioengineering at the Politecnico di Milano (Italy). He received his PhD cum laude in 2017, presenting a thesis titled “Modeling and Querying Genomic Data”. In his Thesis, he introduced and evaluated data structures and algorithms designed to handle, search, and analyze extensive collections of genomic datasets utilizing cloud and distributed technologies. He has previously held a visiting PhD candidate position at Harvard University's School of Engineering and Applied Sciences in Cambridge, MA, USA. His broad research interests encompass bioinformatics and computational biology, database and data management, big data technology and algorithms, machine learning and natural language processing, as well as computational drug repurposing. He authored more than 70 peer reviewed articles in Journals, Conferences and Books. He has been Work Package leader in the GeCo project (data-driven Genomic Computing) ERC Advanced Grant (2016-2021) lead by Prof. Stefano Ceri, and Task leader in the innovation EIT Digital project "Data against COVID-19" 'Virusurf' (2020). Currently is the PI of the PoliMI unit for the Horizon Europe BETTER (2023-2027) and he is involved as Task leader for the FAIR NextGenerationEU program (Future Artificial Intelligence Research, 2023-2025). During his carrer he gave invited talks in prestigious research institute, including IBM Almadeen in US, EPFL in Lausanne, ETH Zurich, Broad institute of Harvard and Mit, IBM Zurich, and Nanyang Technological University in Singapore. He also actively contributes to the organization of workshops in several conferences and has served as guest editor for BMC Bioinformatics and MDPI Bioengineering.

Nelly Barret - Postdoctoral researcher at DEIB (Information and Bioengineering department) at Politecnico di Milano (Italy) since April 2024. From 2021 to 2024, she pursued her PhD at Inria Saclay (France), under the supervision of Pr. Ioana Manolescu, on the topic “user-oriented exploration of semi-structured datasets”. She graduated from University of Lyon (France), where she obtained her Bachelor in computer science (in 2018) and then her Master in the Artificial Intelligence track (in 2020). Her research interests lie between heterogeneous data integration, databases and data management.

Tore Guneriussen - Head of the research, education and dissemination section at the Faculty of Science and Technology

Dilip Prasad - Associate Professor at UiT The Arctic University of Norway, Kauffman Global Scholar, PhD from NTU Singapore, B. Tech. from IIT Dhanbad India, Top 2% Scientist Stanford University List. Specialties: explainable AI, federated learning, generative AI, sustainable AI, and Entrepreneurship.

Maja Stojilkovic, PhD - FULL RESEARCH PROFESSOR - RESEARCH INTEREST: Dedicated to fundamental and applied biomedical research with a focus on rare diseases. Conducted pioneer studies on molecular-genetic basis of several rare diseases in Serbian population (phenylketonuria, tetrahydrobiopterin dificiencies, organic acidurias, thalassemia, congenital adrenal hyperplasia etc.), which enabled genetic diagnostics of these diseases in the country. Performs functional studies of novel genetic variants (transcriptional studies, protein activity studies) in order to understand the impact of the variant on the rare disease phenotype, to elucidate genotype-phenotype correlation and to assess genotype-base prediction of drug efficacy (e.g. responsiveness of phenylketonuria patients to drug KUVAN).

Sonja Pavlovic, PhD - FULL RESEARCH PROFESSOR - RESEARCH INTEREST: Molecular genetics of rare diseases, thalassemia (regulation of transcription of beta-globin genes, modifier genes), hematological malignancies (molecular markers of childhood and adult acute and chronic myeloid and lymphoid leukemias, lymphomas and multiple myelomas), metabolic diseases (phenylketonuria, glycogenosis, organic acidurias), congenital adrenal hyperplasia, molecular genetics of inflammatory bowel diseases (Crohn’s disease, ulcerative colitis, celiac disease), pulmonary diseases (tuberculosis, idiopathic pulmonary fibrosis, hereditary pulmonary hypertension, sarcoidosis, primary ciliary dyskinesia), rheumatological diseases (systemic sclerosis, myositis, rheumatoid arthritis), orthopedic diseases, inflammation, autoimmunity, genotype-phenotype correlation, population genetics, stem cell and gene therapy and pharmacogenomics. Research activities also resulted in the introduction of the molecular diagnosis of rare diseases in Serbia, as well as improved therapeutic protocols for several diseases.

Kristel Klaassen Ljubičić, PhD - ASSOCIATE RESEARCH PROFESSOR - RESEARCH INTEREST: Research in molecular biomedicine focused on molecular genetic basis of rare diseases, especially genetics of inborn errors of metabolism (hyperphenylalaninemia, organic acidurias and glycogen storage diseases) as well as other rare monogenic diseases. Identification and functional characterization of novel genetic variants in disease causing genes and also in genes contributing to modification of gene expression affecting patients’ phenotype; identification of novel modifier genes, aiming to better understand genotype-phenotype correlation, prediction of the disease outcome and individualization of therapy. Application of next generation sequencing technology (NGS) in research and diagnostics of diverse inborn rare diseases.

Milena Ugrin, PhD - ASSOCIATE RESEARCH PROFESSOR - RESEARCH INTEREST: Fundamental research in molecular biomedicine with the focus on molecular genetics of monogenic rare diseases such as thalassemia syndromes and maturity-onset diabetes of the young (MODY). Involved in research on transcription regulation, as well as study of gene modifiers in monogenetic diseases. Research interests include functional studies of novel genetic variants in disease causing genes leading to better understanding of genotype-phenotype correlation and personalized treatment.

Vesna Spasovski, PhD - ASSOCIATE RESEARCH PROFESSOR - RESEARCH INTEREST: Development of innovative therapeutics based on stem cells and their application in veterinary and human medicine. Research in the field of molecular biomedicine with a focus on the molecular-genetic basis of rare diseases, with special interest in the genetic basis of rare orthopedic, rheumatological and pulmonary diseases. Identification of genetic variants underlying complex diseases, understanding the genotype - phenotype correlation, discovery of biomarkers for more accurate prediction of disease severity. Development of new diagnostic procedures for rare diseases.

Marina Anđelković, PhD - ASSISTANT RESEARCH PROFESSOR - RESEARCH INTEREST: The field of my scientific interest includes pediatric pulmonary diseases, primarily primary ciliary dyskinesia (PCD). PCD is inherited in an autosomal recessive manner, and predominantly affects the respiratory tract and reproductive organs, and affects the laterality of the internal organs. Genomic profiling of patients with this disorder enabled the establishment of a precise diagnosis of PCD, but also a differential diagnosis of this disease from other pediatric lung diseases with a similar clinical presentation. Comprehensive genomic profiling enabled design of genetic algorithm which in addition to the known disease-causing genes, includes candidate genes and newly discovered genetic variants, as well as genes responsible for the individual symptoms of this disease and the genes responsible for ciliopathies, thereby improving the effectiveness of mutation detection rate and establishing a genetic diagnosis of the disease.

Anita Skakić, PhD - ASSISTANT RESEARCH PROFESSOR - RESEARCH INTEREST: The molecular basis of rare metabolic diseases (glycogen storage diseases, congenital adrenal hyperplasia), pulmonary diseases (primary ciliary dyskinesia, tuberculosis), gene editing, genotype-phenotype correlation, molecular diagnosis, stem cell therapy and targeted therapy approach.

Jovana Komazec, PhD - ASSISTANT RESEARCH PROFESSOR - RESEARCH INTEREST: The scientific research area - genetic basis of MODY diabetes (Maturity-onset diabetes of the Young, MODY), functional characterization of disease-causing gene variants and genotype - phenotype correlation.

Nina Stevanović - RESEARCH ASSISTANT - RESEARCH INTEREST: Study of the molecular basis and molecular mechanisms of rare lung disease (primary ciliary dyskinesia), correlation of genotype and phenotype and targeted therapeutic approaches using small molecules.

Marina Parezanović - JUNIOR RESEARCHER - RESEARCH INTEREST: Molecular basis of rare metabolic diseases (glycogen storage diseases, Fabry’s Disease), gene editing using CRISPR/Cas9 technology, genotype-phenotype correlation, molecular diagnosis, small molecule therapy potential.

Sara Stanković - JUNIOR RESEARCHER - RESEARCH INTEREST: Research in molecular biomedicine, molecular genetic basis of rare diseases focused on rare inherited metabolic disorders, identification and functional characterization of novel genetic variants

Prof. Óscar Pastor - He is a Full Professor and the Director of the PROS Research Center, Universitat Politècnica de València, Spain. He is leading a multidisciplinary project linking information systems and bioinformatics to designing and implementing tools for conceptual modeling-based interpretation of human genome information. He has published over 300 research papers in conference proceedings, journals, and books. He also received numerous research grants from public institutions and private industry and was a keynote speaker at several conferences and workshops. His research interests include conceptual modeling, web engineering, requirements engineering, information systems, and model-based software production.

Aída Gil Pérez - Senior manager of VRAIN - Degree in Philosophy (UV), Master in Project Management (VIU), Postgraduate Diploma in Philosophy of Cognitive Science (Sussex University), DEA in Interdisciplinary Communication (UV). Research, development, and innovation manager at VRAIN, 16 years of experience as a manager at the UPV, and two years in private enterprise. She has published articles in the press and is co-author of the "Informe del Estado de la IA en el arco mediterráneo". As a full-time manager, she is responsible for all phases of application, implementation, and justification of projects, from local to international calls. She also manages contracts with private companies and public entities. She organizes events to disseminate VRAIN results and attends to the challenges posed by companies, guiding them to reach solutions with the help of VRAIN researchers.

Ana León Palacio - Researcher - She has a Ph.D. in computer science from the Universitat Politècnica de València in 2019. Currently, she is a Researcher with the Research Center on Software Production Methods (PROS-UPV), Universitat Politècnica de València, where her research activity is focused on the use of conceptual models for the development of genomic information systems and the definition of a systematic process for the search, identification, load, and exploitation of DNA variants in the context of precision medicine. She is also a University Expert in medical genetics and genomics at Universidad Católica de Murcia, Spain. Her research interests include conceptual modeling, genomic data science, data quality, and information systems.

Juan Carlos Casamayor Ródenas - Researcher - He has been a distinguished faculty member in the Department of Computer Systems and Computing at the Universitat Politècnica de València since 1987. With a wealth of experience spanning over three decades, they have been instrumental in shaping the education and research landscape in the field of computer science. Specializing in database management, he focuses on Deductive Databases and Data Modeling, imparting their knowledge and expertise to students and colleagues alike. In addition to their teaching responsibilities, he actively engages in research endeavors, collaborating on projects ranging from database development to genomic modeling and data science. As a passionate educator and researcher, he is committed to inspiring the next generation of computer scientists and engineers. They believe in the transformative power of education and are dedicated to guiding students towards success in the ever-evolving field of computer science.

Alberto García Simón - Researcher - He is currently a postdoctoral researcher at the PROS Research Center, Universitat Politècnica de València, Spain. He is also in charge of developing a technological platform to support the identification of relevant variants and their application to precision medicine. His research focuses on applying conceptual modeling, data science, and User Interface design. He has participated in multiple research projects in collaboration with clinicians and geneticists to generate knowledge from genomics data effectively and efficiently.

Mireia Costa Sánchez - Researcher - She is a Ph.D. student in Technologies for Health and Well-Being at the Valencian Research Institute for Artificial Intelligence (VRAIN), Universitat Politècnica de València, Spain. Her research focuses on applying conceptual modeling and data science techniques to support variant classification in precision medicine. Her research interests include conceptual modeling in genomics, genomic data science, and genomic information systems.

José Fabián Reyes Román - Researcher and PMO - He is currently a postdoctoral researcher and PMO at the VRAIN Research Institute at Universitat Politècnica de València (Valencia, Spain). He holds a Ph.D. in Computer Sciences (UPV, 2018), a MSc in Software Engineering (SE), Formal Methods and Information Systems (2013) from UPV (Spain, 2013), a Diplomate of Analysts and Systems Designers (2011), and a University Degree in System Engineering (2010) from Universidad Central del Este (Dominican Republic). His main research activities are centered on using Conceptual Models to develop Genomic Information Systems (GeIS). He has participated in multiple R&D projects in collaboration with hospitals, research institutes, and companies with the aim of generating knowledge from the management of genomic and clinical data to enhance Precision Medicine. His main research interests include Conceptual Modeling, Genomic Data Science, Explainable AI (XAI), and Information Systems Engineering. From a conceptual modeling perspective, he develops solutions in the genomic and clinical domain.

Dr. Maria J Arranz - Head of the Research Laboratory Unit at the Fundació Mútua Terrassa since 2011. Previously Dr. Arranz conducted psychiatric genetic research at the Institute of Psychiatry, London (1993-2011) and genetic research into xenobiotics (1987-1992, Medical Research Council - Toxicology Unit, London). Dr. Arranz's work on the pharmacogenetics of antipsychotics is well known, having published leading papers on the use of pharmacogenetics for the prediction of response to antipsychotic and antidepressant treatments. Currently, Dr. Arranz leads several genomic and pharmacogenomic projects in psychiatry, oncology and immunology and has recently received grant funds to conduct genomic and epigenomic studies in children affected with autistic disorders (ASD) and to implement pharmacogenetic testing in hospital settings and primary care centres. Dr. Arranz is also a lecturer in Pharmacogenetics at the University Ramon LLull (Barcelona).

AMAIA HERVÁS MD, MRCPsych, PhD, CCST -
PhD in Psychiatry from the Autonomous University of Barcelona. Specialising in Adult Psychiatry at St George's Hospital in London. MRCPsych (Fellow of the Royal College of Psychiatrists) in the United Kingdom. Specialist in Child and Adolescent Psychiatry at Maudsley Hospital, Institute of Psychiatry, London. CCST: Certificate of Completion of Specialist Training in the UK.
Head of the Child and Adolescent Mental Health Service at the Mutua de Terrassa University Hospital.
Clinical Director and Co-Founder of IGAIN. Barcelona
Associate Professor at the University of Barcelona
PI of the AGAUR autism research group AUTBArcelona.
PI of the research group of the TECSAM Research Network
Coordinator of the TEA Interdepartmental Group under Social Welfare and the National Mental Health Plan
She worked for 11 years as an adult psychiatrist and child and adolescent psychiatrist at St Georges Hospital and Maudsley Hospital- Institute of Psychiatry in London. Director of the UETD (Specialized Unit for Developmental Disorders) of the Sant Joan de Déu Barcelona Hospital. Coordinator of the Master's Degree in Child and Adolescent Psychiatry at the Panamericana - University of Barcelona.
She has more than 150 publications in scientific articles and more than 200 papers and conferences. It has trained more than 3000 professionals from America, Portugal and Spain in the ADI-R and ADOS2 diagnostic assessment instruments.

Anna-Maria Feneri - Director of Noosware B.V. She studied, lived and worked in the Netherlands, holding two MSCs in the field of Urban Design, Built Environment and Planning studies, currently pursuing a doctorate in modelling integrated mobility systems and human behavior at TUe. With previous working experience in diverse domains as a Strategic Business and Research Manager, she brings a wealth of experience in strategic planning to drive innovation and sustainable growth. With her technical expertise, diverse working experience with the Public and the Private sector and research acumen, she drive’s Noosware’s success in a rapidly evolving industry landscape.

Charilaos Thomos - A versatile technology enthusiast with strong technical knowledge, solid management skills, and focused business orientation. He studied Computer Science at Aristotle University of Thessaloniki, Greece, and later, he achieved an MSc (pass with Merit) in Computing and Internet Systems from King’s College London. He has worked in the UK, Europe, and Asia, and got involved with
technology-related projects in a plethora of fields (real estate, transport, logistics, collaboration, sports betting, recruitment, banking, finance, manufacturing, and construction, to name a few).

Georgios Samourgkanidis: A results-oriented Full-stack Developer with few years of hands-on experience creating dynamic and responsive web applications. Proficient in translating design concepts into efficient, clean, and maintainable code. Adept at collaborating with cross-functional teams to deliver high-quality solutions within tight deadlines. Proven expertise in leveraging Angular, Dotnet and related technologies to enhance user experiences and optimize website performance. Graduated with a Bachelor and Master in Applied Informatics.

Professor Eyal Banin, MD, PhD - Head of the Center for Retinal and Macular Degenerations (CRMD) at the Ophthalmology Division of Hadassah-Hebrew University Medical Center.
He is a clinician-researcher focusing on the field of IRDs.

Professor Dror Sharon, PhD - Head of the Molecular Ophthalmology Laboratory (MOL) at the Ophthalmology Division of Hadassah-Hebrew University Medical Center.
He is an expert in the genetics of inherited retinal diseases (IRDs).

Inbar Erdinest, B.Optom. - Leads the team at the Clinical Electrophysiology and Visual Function Unit of the CRMD at the Ophthalmology Division of Hadassah-Hebrew University Medical Center. Inbar and her team characterize electrophysiological retinal and visual function in patients with IRDs.

Debbie Marks-Ohana, B. Optom - Leads the clinical research team of the CRMD at the Translational Ophthalmology Center of the Ophthalmology Division of Hadassah-Hebrew University Medical Center. Debbie and her team characterize visual function and retinal structure in patients with IRDs, including psychophysical testing and retinal imaging.

Sagi Klein - Student of Medicine and Data Science at the Faculty of Medicine of the Hebrew University-Hadassah Medical School. Sagi is involved in data mining, database management and analysis related to the BETTER project.

Johanna Valensi - Undergraduate student for bioinformatics and genetic counseling at the Hadassah-Hebrew University Medical Center. She is an expert in the analysis of next generation sequencing data of patients with inherited retinal diseases.

Francesc Palau Martinez - SJD Distinguished Investigator. I graduated in medicine and received my MD from the University of Valencia, where I also obtained a PhD in leukemia genetics. I am a research professor at the Spanish National Research Council (CSIC) on leave. I am a specialist in pediatrics, accredited in clinical and human genetics. I have been head of the Department of Genetic Medicine at the Sant Joan de Déu Children’s Hospital, Director of the Pediatric Institute for Rare Diseases, and Director of the SJD Research Institute at the same center. Currently, I am a SJD Distinguished Investigator and serve as chairman of the Scientific Advisory Board of Únicas SJD Center. I co-lead the Neurogenetics and Molecular Medicine research group at the SJD Research Institute and the Center for Biomedical Research Network for Rare Diseases (CIBERER). Our mission is to transform rarity into knowledge, allowing us to care for and cure children with rare diseases. I am also an adjunct professor of pediatrics at the Faculty of Medicine and Health Sciences of the University of Barcelona, Director of the Master in Clinical Genetics and Rare Diseases at the Sant Joan de Déu Children’s Hospital, and Editor-in-Chief of Orphanet Journal of Rare Diseases.

Jonathan Olival, PhD – Postdoctoral Researcher and Scientific Coordinator with an MSc in Molecular Biotechnology and a PhD in Human Genetics. Specialized in molecular laboratory techniques and genomic data analysis. Ultimately, I have been focused on genomic variant curation and interpretation in line with the latest ACMG/AMP guidelines. My work experience spans variant curation in a pilot project for newborn screening, collaboration with the NIH-funded resource ClinGen, and performing genomic data analysis and functional laboratory studies to identify candidate variants associated with, or potentially linked to, neurodevelopmental disorders and rare genetic diseases

Nidia Barco Armegol - predoctoral researcher with a degree in biothecnology and a master's degree in omics data analysis from the University of Vic, focused on omics data processing and analysis. Her research interest focuses on the study of rare neurodevelopmental pathologies through the integration of multiple omics, seeking to obtain a more detailed view of these pathologies.

Jordi Pijuan Marquilles - Postdoctoral researcher - Person in charge of functional genomics studies. The researcher Jordi Pijuan Marquilles has extensive training and experience in the fields of genetics and cellular and molecular biology. Throughout his professional career, he has focused on the development and implementation of cutting-edge tools and technology for the diagnosis of patients with rare diseases. His activities include genetic analysis, in-silico studies, and functional genomics to identify new genetic variants and establish their pathogenicity, study the pathophysiology of diseases, and search for new therapeutic targets.

Natàlia Caelles Gramunt - Researcher. With a degree in Biology and a Master's in Genetics and Genomics from the University of Barcelona. I contribute to the diagnosis of genetic diseases in pediatric patients. My work focuses on the interpretation of genomic data and the identification of potentially pathogenic genetic variants through in-silico studies, using bioinformatics tools and genomic data analysis. Additionally, I conduct functional laboratory studies to validate candidate variants, providing a comprehensive approach to medical genetics research and diagnosis.

Guerau Fernandez, PhD, MSc - Bioinformatician. Through data-driven analysis, he aims to optimize the diagnosis of complex and rare diseases by exploring new technological and methodological approaches. His research focus is in gene variability, genotype-phenotype correlation and pathway regulation. He also advocates for data sharing and FAIR principles.

Dídac Casas Alba, PhD - Clinical Geneticist. PhD in Medicine, University of Barcelona. European Certificate in Medical Genetics and Genomics (ECMGG), developed by the UEMS Section of Medical Genetics (UEMS-SMG) and the Branch of Medical Genetics and Genomics of the European Board of Medical Genetics (EBMG-BMGG) (2023).

Gema García García, PhD - Co-leader and Miguel Servet excellence program researcher of the group “Molecular, Cellular, and Genomic Biomedicine” at the La Fe Health Research Institute in Valencia.
Gema obtained an international PhD in Biotechnology at the La Fe Health Research Institute in Valencia and completed her postdoc at the CHU of Montpellier. She has extensive experience in the field of rare diseases, focusing particularly on sensorineural disorders such as inherited retinal dystrophies and sensorineural hearing loss. Her research career is dedicated to understanding the genetic and functional bases of these complex inherited diseases. Through the development of innovative strategies, and by combining genomic technologies, bioinformatics, functional studies and close collaboration with clinical experts, she aims to facilitate, accelerate, and improve the molecular diagnosis of patients with sensorineural disorders. Her goal is to bridge the gap between research and clinical practice, ensuring that scientific advancements have a direct benefit for patients and families affected by these rare diseases.

José María Millán Salvador. Dr. - Millán is a geneticist and Principal Investigator of the Molecular, Cellular, and Genomic Biomedicine Research Group at the Health Research Institute La Fe, where he served as General Director from 2016 to 2018.

Dr. Millán is a member of the scientific committee of Orphanet-Spain and the Spanish representative on the Board of Genetics of Orphanet. He is also a member of the Scientific Advisory Board of the Spanish Federation of Rare Diseases (FEDER).
From 2010 to 2016, he was Deputy Director of the Centre for Biomedical Research Network on Rare Diseases (CIBERER). He also contributed to the development of the Rare Diseases Strategy for the National Health System. Dr. Millán is currently a member of the scientific advisory committee of FEDER, the Monitoring and Control Commission of the Information System on Rare Diseases of the Valencian Community (SIER-CV), and the executive board of the Spanish Association of Human Genetics (AEGH), where he serves from 2019 to 2024. His current research focuses on genetic disorders with low prevalence, such as sensorineural hearing loss, inherited retinal dystrophies, hereditary deaf-blindness, and muscular dystrophies, including spinal muscular atrophy. Dr. Millán has a long career in Genetics and is dedicated to translating research findings into improvements in patient health and Precision Medicine. This includes advancing molecular diagnosis and exploring therapeutic approaches such as CRISPR and RNA editing.

Rafael Vázquez-Manrique, PhD. - Senior Researcher and PI of the Neurodegenerative Disorders section of the Molecular, Cellular, and Genomic Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.

Dr. Vázquez-Manrique holds a degree in Biological Sciences and a PhD from the Universitat de València. He conducted his doctoral research at the IBV-CSIC, under the umbrella of the same university, using the nematode Caenorhabditis elegans to develop an animal model of Friedreich’s ataxia. Dr. Vázquez-Manrique then pursued a postdoctoral position at the University of Cambridge (UK), where he studied how IP3/calcium signaling regulates the embryonic development of C. elegans. After five years, he joined the Centre de Psychiatrie et Neurosciences at the Centre Hospitalier Sainte-Anne in Paris, France, to study the molecular mechanisms underlying Huntington’s disease (HD), using C. elegans and mammalian in vitro models. In 2012, he was appointed to a tenure-track position, and later to a senior researcher position, at La Fe Health Research Institute, where he focused on identifying and characterizing druggable targets for the treatment of neurodegenerative diseases. To this end, he uses C. elegans, mice, and in vitro HD models. His group also employs OMICs technologies and artificial intelligence to uncover key signaling pathways that regulate cell survival.

Anselmo Feliciano Sanchez. - Dr Feliciano is a renowned ophthalmologist specializing in medical and surgical retina, whose leadership and expertise have established him as a key figure in the field of hereditary retinal dystrophies. He currently serves as Co-Director of the Reference Unit for Hereditary Retinal Dystrophies in the Valencian Community, as well as Co-Director of a Gene Therapy Treatment Center for these conditions.
He earned his Doctorate in Medicine from the University of Valencia, achieving the highest distinction of Cum Laude with his doctoral thesis, titled "Study of Biomarkers in Retinitis Pigmentosa." This work has been recognized as a significant contribution to advancing the understanding of this disease. Additionally, he completed an Official master’s degree in research Methodology in Health Sciences at the International University of La Rioja, strengthening his academic focus on clinical research. Dr. Feliciano is an active member of prominent scientific societies, including the Spanish Society of Ophthalmology, the Spanish Society of Retina and Vitreous, and the Spanish Society of Ocular Inflammation. His commitment to medical advancement is reflected in his participation in innovative research and projects aimed at diagnosing and treating hereditary retinal dystrophies.
At Hospital La Fe in Valencia, he combines the clinical and surgical management of retinal diseases with the implementation of cutting-edge genetic and biotechnological therapies. His comprehensive approach seeks to provide personalized care to patients while driving research that transforms the quality of life for those affected by hereditary retinal diseases.

Romana Garcia Gil. MD. PhD. - Co-director of the Hereditary Retinal Dystrophies Unit and Gene Therapy Treatment Center of the Valencian Community, Hospital La Fe, Valencia, Spain.
Dr. Garcia Gil holds a degree in Medicine and Surgery and a PhD from the University of Valencia. Her doctoral research focused on advanced therapies and the application of stem cells in animal models of neurodegenerative diseases. This work highlighted her commitment to pioneering research aimed at developing novel therapeutic approaches. Dr. Garcia Gil is currently the co-director of the Hereditary Retinal Dystrophies Unit of the Valencian Community and the Gene Therapy Treatment Center, where she leads multidisciplinary teams dedicated to the diagnosis, treatment, and research of hereditary retinal conditions. Her work focuses on translating cutting-edge advances in gene and cell therapies into clinical practice, improving patient care and outcomes. She also holds an Official Master’s Degree in Research Methodology in Health Sciences from the International University of La Rioja. This additional qualification strengthens her expertise in the design and analysis of clinical and translational research. At Hospital La Fe, Dr. Garcia Gil plays a pivotal role in advancing the understanding and management of hereditary retinal diseases, combining her clinical expertise with her passion for innovative therapies to improve the lives of her patients.

Professor Sergei K. Turitsyn - Graduated from the Department of Physics of the Novosibirsk University, in 1982 and received his Ph.D. degree in Theoretical and Mathematical Physics from the Budker Institute of Nuclear Physics, Novosibirsk, Russia in 1986. In 1992 he moved to Germany, first, as a Humboldt Fellow and then working in the collaborative projects with Deutsche Telekom. Turitsyn is a world-renowned expert and the originator of several key concepts in the fields of nonlinear photonics, optical fibre communications and fibre lasers. His work lies at the interface between fundamental nonlinear science and engineering applications of photonics. He joined Aston University in 1998 and since 2012 he serves as a director of the Aston Institute of Photonic Technologies, which is a world known photonic research centre, with a strong track record of academic achievements, developed technologies and industrial applications, ranging from high-speed optical communications, lasers and optical sensing to bio-medical devices and machine learning in photonics. He serves as an Associate Editor of the IEEE Journal of Lightwave Technology, and as a referee and member of the panels for more than 20 research funding organisations around the world. Turitsyn was the recipient of a Royal Society Wolfson Research Merit Award in 2005. He received Lebedev medal by the Rozhdestvensky Optical Society in 2014, Aston 50th Anniversary Chair medal in 2016 and Chancellor’s Medal in 2018. He is a Fellow of the Royal Academy of Engineering, Optical Society of America and the Institute of Physics.

The project has received funding from the European Union's Horizon Europe research and innovation programme under grant agreement No 101136262. The communication reflects only the author's view and the Commission is not responsible for any use that may be made of the information it contains.

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