Save the Date: Rare Disease Seminar
Event: Rare Disease Seminar "Empowering Lives: Rare Diseases in the Evolving Maltese Society"
Date: Friday 28 February 2025
Time: 09:00-16:00
Venue: Verdala Palace and Online
On the occasion of Rare Disease Day, a Rare Disease Seminar, entitled "Empowering Lives: Rare Diseases in the Evolving Maltese Society" shall be held under the esteemed Patronage of the President of Malta, Her Excellency Myriam Spiteri Debono, on Friday 28 February from 09:00 to 16:00 at the Verdala Palace, and streamed online.
This seminar is being organised as a collaboration between the Ministry for Health and Active Ageing, the National Alliance for Rare Diseases Support - Malta, and the University of Malta. It will also include the 10th Annual Scientific Colloquium on research in Rare Diseases in the afternoon.
Abstracts and bios for Plenary Session III "Advances in Rare Disease Medicine"
Introducing the Reference Genome of Malta - Prof. Joseph Borg (University of Malta)
Abstract:
The Maltese population carries a unique genetic heritage shaped by centuries of migration and adaptation. This presentation will introduce the Reference Genome of Malta, an important milestone in understanding the genetic landscape of our islands. By assembling a high-quality reference genome tailored to the Maltese population, we are unlocking new insights into genetic disorders, including thalassaemia, mitochondrial diseases, and other hereditary conditions. A population-specific reference genome allows us to improve precision medicine, guiding more accurate diagnoses and better treatments tailored to our genetic background. It also plays a key role in big data informatics, where large-scale genomic datasets are analysed using cutting-edge bioinformatics tools. These advances are essential in linking genetics to health outcomes and understanding how specific DNA variants influence disease risk.
As part of this effort, we integrate genomic data with advanced computational approaches to explore both rare and common DNA variants, identify risk factors, and contribute to global genetics research. This initiative not only benefits the Maltese community but also provides valuable insights into Euro-Mediterranean genetic diversity. In this talk, I will share key findings, highlight ongoing collaborations, and discuss the future applications of this work in medicine and research. The Reference Genome of Malta is a foundation for better healthcare, scientific discovery, and personalized medicine for generations to come.
Bio:
Prof. Joseph Borg is a leading scientist in genomics, bioinformatics, and space bioscience. Based at the University of Malta, he has pioneered research in Maltese genetics, focusing on thalassaemia, mitochondrial diseases, and population genomics. His work on past and ongoing projects related to the Maltese Human Genome Project (MHGP) funded by Xjenza Malta is a major step toward improving precision medicine for the Maltese population. Beyond human genetics, he also explores the frontiers of life sciences in space, working on multiple research missions with NASA, SpaceX, and international collaborators. His projects have examined the effects of microgravity on human cells, including studies on the microbiome and DNA damage in space environments. He has played a key role in Project Maleth, the first Maltese experiment sent to the International Space Station.
Prof. Borg is a graduate of the University of Malta and integrates bioinformatics and big data analysis to decode complex biological information. His research bridges fundamental science with real-world applications, aiming to improve medical diagnostics, therapeutic strategies, and our understanding of human biology. His contributions have been widely recognized, with publications in high-impact journals and collaborations with global research institutions. Whether mapping Maltese DNA or studying human health in space, his work continues to push the boundaries of knowledge, benefiting both local and international scientific communities.
Newborn screening in Europe: the challenges and the opportunities
Prof. James R Bonham, President - International Society for Neonatal Screening. Sheffield Children’s Hospital, Sheffield, S10 2TH, UK
Abstract:
It is more than 60 years since Dr Robert (Bob) Guthrie helped introduce newborn screening for phenylketonuria in the US. Since that time more than 750m babies around the world have been tested and an estimated 500,000 children have benefitted from this life changing intervention.
Despite these huge achievements we must remain careful. Screening is ‘different’ as we are reaching out to families who believe their baby to be well and are seeking reassurance. A recall to hospital inevitable comes as a great shock. We must be aware of the harms of screening alongside the great health benefits and work hard to reduce false positive results and reduce uncertainty and improve the organisation and delivery of newborn screening programmes.
The way that we assess the benefits and harms has led to marked differences across Europe with some countries screening for 2 conditions while others screen for 48. In this talk we will explore some of the reasons behind these differences and consider how we might learn from one another to support health policy making.
Into this already diverse landscape, newborn screening using primary genomic testing (gNBS) is beginning to emerge with large scale research studies such as the Generation Study in the UK and Screen4Care in the EU, already active or in the late stage of planning. These approaches offer the possibility of increasing the number of disorders from 60 to several hundred. Despite the clear benefits of such an approach, there are some key questions to address about the logistic and interpretative aspects of these exciting new opportunities.
The penetrance and expressivity of the genomic variants identified has largely been established from studies in symptomatic individuals or in families with an affected member. It is therefore likely that, with the current understanding, the significance of the findings from whole population screening of asymptomatic babies may not be fully understood.
In this presentation we will explore the unique aspects of newborn screening which mark its difference from the typical diagnostic and clinical scenario and explore ways in which we can support the careful growth and development of newborn screening while ensuring that it continues to deliver ‘more good than harm at reasonable cost’.
Bio:
is currently the President of the International Society of Neonatal Screening and national laboratory adviser for newborn screening in the UK on behalf of NHS-England and adviser to the UK National Screening Committee.
He has a long standing interest in the diagnosis of inherited metabolic disorders in childhood and travels extensively, taking part in meetings related to the organisation, conduct and development of newborn screening.
He has an interest in the potential for the use of genomics in newborn screening alongside biochemical assays.
He also Chairs an International group in partnership with the International Federation of Clinical Chemistry seeking to develop and extend newborn screening in low and middle income countries.
Rare Disease Day: Advancing Newborn Screening – Lessons from Haemoglobinopathies
Ms Ruth Galdies and Prof. Christian Scerri (Mater Dei Hospital, and University of Malta)
Abstract:
Haemoglobinopathies, including thalassaemia syndromes and sickle-cell anaemia, are among the most prevalent inherited disorders globally, affecting approximately 5% of the population. Each year, around 300,000 infants are born with these conditions, with beta-thalassaemia being particularly common in regions such as the Mediterranean. Early detection through newborn screening is essential for effective disease management and improved patient outcomes.
Since 1989, the Laboratory of Molecular Genetics has conducted nationwide newborn screening for haemoglobinopathies in Malta, screening over 156,000 newborns—more than a quarter of the population. This program has enabled early diagnosis, timely interventions, and comprehensive familial testing for at-risk couples. In recognition of Rare Disease Day, this presentation will highlight key lessons from Malta’s screening program and explore future advancements, advocating for the inclusion of other rare conditions, to enhance early detection and intervention strategies.
Authors: Ruth Galdies, Natalie Ciantar, Alex E. Felice
Bio:
Ruth Galdies is a senior pharmacist at the Pathology Department, Mater Dei Hospital, with over three decades of experience in genetic diagnostics. Since joining the Laboratory of Molecular Genetics in 1991, she has played a key role in Malta’s nationwide newborn and antenatal haemoglobinopathy screening. Her expertise extends to rare genetic testing, specializing in haemoglobinopathies, cystic fibrosis, and pharmacogenetics. A co-author of numerous research publications, she is also actively involved in teaching and mentoring biomedical science students.
The European Rare Diseases Research Alliance: empowering rare diseases research community
Dr Daria Julkowska (INSERM, Paris, France)
Abstract:
The European Rare Diseases Research Alliance (ERDERA) aims to improve the health and well-being of the 30 million people living with a rare disease in Europe, by making Europe a world leader in Rare Disease (RD) research and innovation, to support concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment. This Partnership will deliver a RD ecosystem that builds on the successes of previous programmes by supporting robust patient need-led research, developing new diagnostic methods and pathways, spearheading the digital transformational change connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in RD research across countries and regions. Structuring goal-oriented public-private collaborations targeted at interventions all along the R&D value chain will ensure that the journey from knowledge to patient impact is expedited, thereby optimising EU innovation potential in RD. To support its ambition and missions ERDERA has been designed as a comprehensive and integrated ecosystem of which structure can be compared to an institute encompassing three main parts: (i) funding, (ii) internal (in house) Clinical Research Network that implements research activities targeting clinical trial readiness of RDs and accelerating diagnosis and translation of research discovery into improved patient care, and (iii) related supporting services (Data, Expertise, Education and Training) as well as an acceleration hub that serve external and internal RD community, all supported by all-embracing coordination and strategy and foundational (inter)national alignment.
Bio:
Daria Julkowska has a PhD in molecular biology and pursued her scientific vocation by the post-doctoral experience in cellular biology, at Institut Pasteur, Paris and extensive training in communication and European Union counselling. She also holds MSc in Management of Research from the University of Paris Dauphine. She coordinated the European Joint Programme on Rare Diseases and is currently the scientific coordinator of ERDERA rare diseases partnership that brings together over 180 institutions representing different type of stakeholders (researchers, funders, clinicians, industry & patients) from 36 countries from Europe and beyond. She is involved in the rare diseases field since 2010. She developed and put into action a set of collaborations facilitating research, including the partnerships with European Research Infrastructures, Patients’ Organizations and industry. She has an extensive knowledge and understanding of European funding schemes and programmes and serves as the chair of the Expert Group on support for the strategic coordinating process for European partnerships of the European Commission. In 2020 she received EURORDIS Black Pearls Award for the European Rare Diseases Leadership.
Exploring the Potential of Gene Therapy in Rare Disease Treatment: Prospects and Problems Dr Tobias Fleischmann (Berlin, Germany)
Abstract:
This presentation will give an overview of the chances that gene therapy offers for the treatment of rare diseases. It will provide a closer look at how certain EU regulations impede gene therapy development and how we can overcome these hurdles with a science-based approach.
Bio:
Dr Tobias Fleischmann holds a Doctor rerum naturalium in Molecular Biology from the University of Potsdam and Max-Planck-Institute for Molecular Plant Physiology, Germany. With a comprehensive background in both human and plant genetics/physiology, genetic modification of single- and multicellular organisms, and cancer biology. With 17 years of experience in R&D, including 10 years in regulatory affairs, CMC, and environmental risk assessments, Dr Fleischmann specializes in worldwide GMO clinical trial applications and environmental risk assessments for all types of drugs. Major current responsibilities include the preparation of Environmental Risk Assessments and monitoring GLP studies. Dr Fleischmann is actively involved in EuropaBio and SETAC to drive regulatory change. Dr Fleischmann is also an accomplished author of various scientific publications.
Does Space-Omics Reveal Innovative Therapeutic Targets for Therapy in Rare Disease?
Ms Maria Vella (University of Malta)
The exploration of space has opened new frontiers, not only in astronomy but also in understanding human biology. Space-omics, the study of biological changes in space environments, offers unique insights into how extreme conditions affect human health. This talk will delve into how space-omics research can uncover innovative therapeutic targets for rare diseases. In space, the human body experiences microgravity, increased radiation, and isolation; all factors that can lead to changes at the molecular and cellular levels. By analysing astronaut blood and other biological samples, we can observe alterations in gene expression, protein function, and metabolic pathways. These changes can mirror or even accelerate processes seen in certain rare diseases on Earth.
For instance, muscle atrophy and bone density loss occur more rapidly in space, similar to what is observed in specific rare musculoskeletal disorders. Studying these accelerated changes allows us to identify critical molecular players and potential intervention points. Additionally, the stressors of space travel can unmask vulnerabilities in cellular processes, shedding light on rare diseases and other genetic conditions that include thalassaemia and sickle cell disease. By bridging space bioscience and medical research, space-omics provides a novel platform to simulate and study rare disease mechanisms in a compressed timeframe. This approach not only enhances our understanding of these conditions but also accelerates the discovery of therapeutic targets. The knowledge gained holds promise for developing treatments that can improve the quality of life for individuals affected by rare diseases.
Maria Vella is a research scientist at the University of Malta, working on the CARE-OMICS project, where she advances multi-omics research for rare diseases to enhance personalised medicine. She also specialises in space bioscience, investigating how extreme environments impact human health by integrating omics, AI, and bioinformatics, bridging biomedical research between Earth and space. She played a key role in Malta’s first single-cell library preparation workshop and contributed to Malta’s first space missions, including Project Maleth, overseeing the secure transport of biological samples for payload experiments sent to the International Space Station. She is also actively involved in science outreach, promoting biomedical research and space bioscience.
