Join us for the 8th Annual Colloquium on Rare Disease organised by the University of Malta, and The National Alliance for Rare Diseases Support – Malta.

The Colloquium, entitled "New Opportunities in Rare Disease" shall be held under the esteemed Patronage of the President of Malta H.E. Dr George Vella, on Friday 23 June 2023 at 15:00 - 18:00.

Please register your interest.

 

Programme:

 

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For Zoom:

Meeting ID: 841 6766 5506
Passcode: 308079 

 

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Bios and abstracts:

 

Prof. Ruben Cauchi (University of Malta)

Prof. Ruben Cauchi is an Associate Professor of Neurogenetics at the University of Malta’s School of Medicine & Surgery. Prof. Cauchi also leads Malta’s National ALS Registry and Biobank aiming at identifying novel genetic and environmental risk factors that lead to ALS.

Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease that attacks the nerves that control the body’s muscles. The disease typically leads to complete paralysis of the body, robbing patients of their ability to walk, speak, eat and breathe. Genetic risk for ALS is highly elevated in genetic isolates, like the island population of Malta, providing a golden opportunity to investigate the genetics of this disease. In this talk, the clinical phenotype and genetic profile of the largest series of Maltese ALS patients to date will be briefly highlighted. The Maltese population appears to be an outlier within Europe and one that has a high percentage of genetically explained ALS cases. Importantly, the talk will showcase work aimed at characterising newly discovered ALS genes in the fruit flies, allowing us to arrive at mechanisms that can be targeted by precision medicine for the benefit of ALS patients in Malta and worldwide.

 

Dr Stan Crooke (N-Lorem Foundation, USA)

Dr Crooke is founder, chairman and chief executive officer of n-Lorem, a non-profit foundation focused on providing treatments for patients with nano-rare disease patients (1 to 30 patients worldwide), which he initiated in January 2020. Prior to n- Lorem, Dr Crooke founded and was Chairman and Chief Executive Officer and Lead Scientist of Ionis Pharmaceuticals. During his tenure at Ionis, he led the scientific development of a new platform for drug discovery, antisense technology and the creation of one of the largest and more advanced development pipelines in the biotechnology industry, and commercialised several antisense drugs including, Spinraza, Tegsedi and others. Early in Dr Crooke’s career, he led the creation of the first broad anticancer program in the industry at Bristol-Myers, bringing numerous anticancer drugs to the market in the first five years of his career. He then assumed responsibility for worldwide R&D (president) at SmithKline Beckman (now GSK). During his tenure at SKB, Dr Crooke led the restructuring of R&D and the development of several drugs that were commercialised

Dr Crooke has also contemporaneously led a successful academic career becoming a full professor at Baylor College of Medicine and the University of Pennsylvania Medical School where he trained a number of PhD students and won several teaching awards. Dr Crooke has been an active scientist throughout his career as well. Dr Crooke has received a number of awards, most recently, Prix Galien Roy Vagelos Pro Bono Humanum Award, the American Chemical Society’s E.B. Hershberg Award for Important Discoveries in Medicinally Active Substances, the Lifetime Achievement Award presented by the Oligonucleotide Therapeutics Society, the Scrip Lifetime Achievement Award and the 2019 Massry Prize. Dr Crooke received his M.D. and Ph.D. degrees and house staff training at Baylor College of Medicine, where he currently serves on the Board of Advisors. In 2021, Dr Crooke has been named Distinguished Alumnus of both Baylor College of Medicine’s Graduate and Medical schools and named one of the 20 of the most influential biopharma R&D executives by Endpoints News. He has published nearly 600 scientific publications, edited more than 20 books, has numerous patents, and led the development of more than 23 drugs that have been commercialised.

Abstract: n-Lorem is a non-profit foundation initiated in January 2020 with the mission of taking advantage of antisense technology to discover, develop, manufacture and provide experimental antisense oligonucleotide (ASO) treatments for patients with a single gene mutation that affects less than 30 patients worldwide. We refer to these patients as nanorare. We have established a clear path from case submission to n-Lorem through treatment with an optimised ASO for free, for life, and we have industrialised the process we use to identify and develop only the most optimised ASO for our patients. To date, we have received over 200 submissions and accepted more than 90 nano-rare patients into our program. In this presentation, we will provide an update on our efforts to provide hope and potential help, one patient at a time, for free, for life. 

Dr Rosienne Farrugia (University of Malta)

Rosienne Farrugia B.Sc., M.Phil., Ph.D.(Cantab) is a Senior Lecturer in Molecular Genetics and Genomics within the Department of Applied Biomedical Science, Faculty of Health Sciences, and an Associate Member of the Centre for Molecular Medicine and Biobanking. Dr Farrugia has pursued studies in genetics both locally and abroad. She worked as a researcher at the Children’s Hospital, Zürich and carried out her PhD studies at the Department of Haematology, University of Cambridge, UK. Throughout her years as a researcher, she has participated in a number of local and EU funded project including BLOODOMICS and CARDIOGENICS, during her years in Cambridge, the MAMI study, the Malta NGSProject and TargetID since she joined the UM. She was also the principal coordinator of TrainMALTA a Horizon2020 Twinning grant held in collaboration with the University of Cambridge and the Katholieke Universiteit, Leuven, and more recently of BioGeMT, a Horizon Europe ERA-Chair grant to establish bioinformatics for genomics in Malta. She has also been awarded a UM’s Research Excellence Grant to study the causes of rare genetic diseases. In fact, her main research interest is the application of genomics to identify the genetic basis of disease. This interest originated through studies into the genetic basis of rare Mendelian disorders and has now expanded into the genetic basis of a wide variety of heritable genetic conditions.

Abstract: Genomics, through the use of high throughput sequencing (HTS) has revolutionised the fields of genetic research & genetic diagnostics through faster, more cost effective and more accurate testing methodologies. It has also enabled the study of rare diseases which could not be elucidated with traditional methods. Rare disease research is a priority research area for the EU because even though a rare disease only affects <1 in 2000 people, cumulatively rare diseases affect around 30 million people in the EU alone. The Genomics of Rare Diseases Project (GDR) continues building on work carried out through the MaltaNGS project in using HTS to identify the underlying genetic causes of a number of conditions prevalent in the Maltese population to enable the development of new diagnostic tests and therapies. These include hypertrophic cardiomyopathy (HCM), polycystic kidney disease (PKD), Hirschsprung disease, idiopatic hypogonadotropic hypogonadism (IHH) and the tetrahydrobiopterin deficiencies (BH4).

 

Dr Edith Sky Gross (EURORDIS, France) 

Edith Sky Gross, PhD, is a medical sociologist and ethicist by background, and holds the position of Senior Manager, Heatlh and Social Science at EURORDIS-Rare Diseases Europe. She leads EURORDIS' participation in the Innovative Medicine Initiative (IMI-2) Project "Screen4Care" which uses both Artificial intelligence and Newborn Screening to shorten the path to diagnosis for rare disease patients.

Abstract: Screen4Care is a 5 year long multi-stakeholder research initiative offering innovative approaches to accelerate rare disease diagnosis, based on two central pillars: genetic newborn screening and digital technologies. People living with rare diseases often find themselves on a burdensome diagnosis journey, enduring on average eight years of inconclusive consultations and possible misdiagnoses, leading to ineffective treatments and inefficient healthcare resource utilisation. Screen4Care takes on those challenges while carefully embedding the participation and voices of people living with rare diseases in the different elements of its activity. EURORDIS' role in Screen4Care as a partner is substantial as it brings multi-stakeholder perspectives and ensures patient engagement at different levels. EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 1000 rare disease patient organisations from 74 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe. By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services. We would like to present how this public-private-partnership can work in actuality through this important research project.  

 

Ms Maria M Vella (University of Malta)

Maria holds a Master of Science degree in Archaeological Science from Leiden University through which she developed expertise in the geochemical data treatment of inorganic artefacts utilising Inductively Coupled Plasma-Optical Emission Spectroscopy (ICP-OES). Since 2019, Maria has been working at the University of Malta, where she began her career as a Research Support Officer (II) in Science Communication and has since moved on to the indefinite role of Scientific Officer in 2020. Her analytical capabilities extend to XRD, XRF, and MicroRaman Spectroscopy for inorganic materials, with recent additions of sampling for Lipid and DNA analysis for organics, propelling her portfolio towards the frontiers of organic research. Maria also proficiently carries out data and statistical analyses using SPSS and R. Since 2022, Maria has joined Spaceomix Ltd., a Maltese Space Bioscience and Biotechnology company, founded by Professor Joseph Borg. Maria's role within the company includes research, outreach, content writing, and providing assistance with space mission payload integration at Space Applications Services. For the MALETH space program, Maria oversaw the transfer and secure placement of the cuvettes containing human skin samples to the space biocube, followed by the integration tests on the bio cube in preparation for shipment to SpaceX and the International Space Station (ISS). In May 2023, Maria completed the STAR (Stellar Training for Astronaut Readiness) program with Interstellar Performance Labs (USA), dedicated to preparing individuals and crews for analog space missions and beyond. Maria gained skills on the multifaceted realm of human performance in simulated space missions, addressing critical aspects such as physical resilience, psychological well-being, seamless team dynamics, and human factors. She actively engages in impactful space bioscience projects such as the upcoming Project Pleiades involving the SpaceX Polaris Dawn mission omics studies, and continuously enhances her expertise in the field of space bioscience through participation in specialised courses on Astrobiology, Space Mission Design and Operations, Space Medicine, Genomics and Biotechnology. In 2023, Maria delivered a Space Medicine Lecture at the Oporto Biomedical Summit, as part of the 'Overcoming Barriers in Science' series, where she addressed the impacts of spaceflight and extreme environment stressors on the human body and highlighted the need for innovative approaches to mitigate and prevent space-related health issues.

Abstract: This presentation highlights the significance of space bioscience research in unraveling the mysteries of red blood cell development and haemoglobin production during spaceflight. By conducting clinical studies involving blood sample collection from human astronauts before, during, and after space missions, we can gain valuable insights into the impact of space conditions on these vital biological processes. Our groups’ research led by Professor Joseph Borg, in collaboration with our partners at NASA Ames Research Centre, and the Weill Cornell Medicine, New York in USA, aims to address important questions related to space anaemia, focusing on the effects of microgravity, radiation, and other environmental factors on red blood cell development and haemoglobin synthesis. By studying these mechanisms in the unique space environment, we can shed light on the underlying biology and uncover potential strategies to mitigate or prevent spacerelated anaemia. Importantly, the knowledge gained from space bioscience research holds promise for patients suffering from sickle cell disease and thalassaemia, two debilitating blood disorders. Understanding how spaceflight influences red blood cell development and haemoglobin production could provide novel insights and therapeutic approaches for managing these conditions on Earth. In conclusion, the ongoing research at the University of Malta provides a compelling opportunity to deepen our understanding of the biology of spaceflight and its implications for human health.

 

Dr Adam Kennedy (Metabolon Inc., USA) 

Dr Adam Kennedy, Ph.D. is an accomplished biochemist and immunologist with more than 40 peer-reviewed publications and five patents, awarded and pending. In his current tenure at Metabolon, he has led over 200 projects from conception to completion, made significant contributions to interdisciplinary research projects, and generated over $10 million in revenue. As the Associate Director of Clinical Metabolomics, he leads a team of scientists to create a rare disease screening test using Metabolon’s HD4 LC-MS platform, resulting in more than 20 peer-reviewed publications and the identification of over 100 different disease signatures. As a postdoctoral fellow, he researched host-pathogen interactions at the National Institutes of Health (NIH), specifically focusing on the interaction between Staphylococcus aureus and human neutrophils, as well as identified a vaccine target that has since passed a successful Phase I clinical trial. Prior to his work at the NIH, he studied antibody therapies to leukemia/lymphoma at the University of Virginia, culminating in the completion of a Phase III clinical trial using a modified dosing schedule of the antibody Rituximab.

Abstract: The ability to identify diagnostic signatures of rare diseases and inborn errors of metabolism (IEMs) has relied on the analysis of small molecule biochemicals since the creation and validation of the first assay for phenylketonuria (PKU) developed by Dr Guthrie. Small molecule metabolites occupy a unique position in biology as they serve as products and reactants for thousands of molecular reactions in the human body. Additionally, some of these small molecules serve as monomeric units for larger molecules that serve as structural compounds in the human body (e.g. structural lipids, glycolipid, and proteins). Mutations in the genetic elements that encode the protein factors and enzymes result in the depletion of enzymatic activity and accumulation of biochemicals to toxic levels. The accumulation of these molecules initiates the physiological effects (e.g. seizures) experienced by the patient. Expansion of the analysis of small molecules to larger groups and families of biochemicals results in the identification of additional disease signatures. Metabolomics assays leverage multiple different technologies including liquid chromatography, nuclear magnetic resonance (NMR), and mass-spectrometry in order to resolve and identify the biochemicals and the quantities of these biochemicals in a sample. The biochemicals identified using these technologies are 1,000 Da to 1,500 Da in molecular weight and smaller. In addition to dried blood spots, metabolomics can identify the biochemicals in plasma, liquid whole blood, urine and cerebrospinal fluid. Through the metabolomic analysis of these sample types, diagnostic biochemicals can be identified and the effects of therapeutic interventions such as dietary interventions (e.g. medium-chain triglyceride diets), dietary restrictions (e.g. carbohydrate restriction), and medical interventions (e.g. effects of gene replacement therapy, anti-seizure medications, ammonia buffering agents) can be monitored. 

 

Dr Melissa Formosa (University of Malta)

Dr Melissa Formosa obtained her PhD in Molecular Biology from the University of Malta and holds a full-time resident academic position at the Department of Applied Biomedical Science within the Faculty of Health Sciences. She leads the ‘Malta Osteoporotic Fracture Study’ consisting of more than 1000 Maltese individuals affected with osteoporosis including postmenopausal women and extended families affected with osteoporosis. The collection forms part of an international multi-study consortium known as GENOMOS investigating the genetics of osteoporosis and other musculoskeletal traits. She is currently using the zebrafish model to investigate the role of novel genetic factors in the susceptibility of early-onset osteoporosis with the aim of identifying possible bone targets for customised treatment.

Abstract: Rare skeletal disorders span a broad clinical spectrum of bone-related pathologies, occasionally exhibiting extraskeletal involvement. These disorders are genetically heterogenous, varying in severity, and ranging from neonatal lethality to minor growth retardation discovered incidentally during adulthood. In our study, we focus on early- onset osteoporosis, particularly in extended Maltese families having several affected young relatives. High-throughput DNA sequencing is used to unravel the underlying genetic cause, which is then functionally interrogated in the zebrafish model. Zebrafish is a small freshwater fish that is a relatively simple and cost-efficient to maintain, which has emerged as an advantageous model system for the study of human disease genes and drug discovery. The ZeEBRA project will use genetically modified zebrafish as an improved and robust model for high-throughput screening of small molecules to identify new drug candidates for treating bone disorders. The project is a collaborative effort between researchers from the University of Malta (Lead Partner), AquaBioTech Limited (Project Partner) and Radboud University, Nijmegen, The Netherlands. The project is being undertaken as part of a Technology Development Programme (R&I-2019-018) funded by the Malta Council for Science and Technology, and is aimed to identify novel drug targets that will be patented. 

 

Dr Dillon Mintoff (Mater Dei Hospital, Malta)

My name is Dillon Mintoff; I am a dermatologist working in the Department of Dermatology at Mater Dei Hospital, Msida, Malta and in private practice. My clinical and research focus is Hidradenitis Suppurativa. To this end, I lead the recently set up Hidradenitis Suppurativa clinic whilst my primary research endeavour is genomics in the pathophysiology of Hidradenitis Suppurativa.

Abstract: Hidradenitis Suppurativa (HS) is a chronic, painful skin disease. Despite being considered a rare, it’s prevalence is increased locally. In this presentation, we aim to give a brief overview on HS research being carried out locally. 

 

Ms Lizie Farrugia (University of Malta)

Ms Lizie Farrugia is a Solutions Developer at Exigy. She holds a Bachelor's and Master's degree in Artificial Intelligence from the University of Malta. During her Bachelor's studies, Ms Farrugia dedicated her research efforts to the extraction of well-established drug-drug interactions from intricate biomedical literature. Building upon this foundation, her Master's degree delved into leveraging Knowledge Graphs and Graph Neural Networks to predict potential drug-drug interactions. Currently, Ms Farrugia also works as a Research Support Officer at the University of Malta, where she explores the applications of graph learning and graph explainability in providing additional insights into drug interactions.

Abstract: In the last decades, people have been consuming and combining more drugs than before, increasing the number of Drug-Drug Interactions (DDIs). These interactions occur when two or more medications are co-administered simultaneously and cause an Adverse Drug Reaction (ADR). An estimated 44% of men and 57% of women older than 65 in the US take five or more medications, which is bound to worsen, given the population’s rapid ageing and the trend of increasing medication use. Moreover, the risk of an ADR increases by 7% to 10% with each medication. Currently, drug developers rely on clinical trials to detect unknown DDIs, whilst pharmacists and doctors depend on textbooks, such as the British National Formulary (BNF), when they are unsure of a known DDI. In research it has been reported that only less than 50% of ADRs are usually detected during these trials since these are usually very labour-intensive, time-consuming, and expensive, whilst the remaining ADRs are identified during the post-marketing surveillance, known as pharmacovigilance (PV). For these reasons, a platform that can predict potential DDIs and serve as a reference point for known DDIs is essential to help healthcare professionals provide better and safer healthcare. In this talk we provide an overview of the work done on the medicX-KE end-to-end framework that leverages on a biomedical Knowledge Graph and Artificial Intelligence to predict DDIs and provide explainability. We will, furthermore, explain how we intend to adopt the medicX-KE approach for drug repurposing with a special focus on rare diseases