The Malta ALS/Motor Neuron Disease Research Programme at the University of Malta, the Research, Innovation and Development Trust (RIDT) and the ALS Malta Foundation would like to invite scientists, students and the general public to a research seminar to be delivered by Prof. George P. Patrinos and Dr Theodora Katsila.
Whole genome sequencing in Founder populations: Amyotrophic Lateral Sclerosis as a paradigm
Date: Tuesday 22 March
Venue: Gateway Hall A, Gateway Building, University of Malta
Amyotrophic lateral sclerosis is a neurodegenerative disorder that affects the upper and lower motor neurons in the motor cortex, brain stem, and spinal cord. Notably, sporadic amyotrophic lateral sclerosis represents the majority (approximately 90%) of the disease cases and has both environmental and genetic factors attributed to its etiology. Today, there is no effective treatment or diagnostic means. We have performed whole-genome sequences of ten amyotrophic lateral sclerosis patients and five healthy individuals of Hellenic origin. Following extensive data analysis, data were classified into three groups; (i) novel annotated (or with no more than one previous annotation) variants (n=3,615), (ii) genomic variants that were common to all patients (n=174) and (iii) genomic variants matching HGMD entries. We discuss the genomic variants that were found to be positively associated with disease phenotype. A cross-population analysis was also performed in patients of Sardinian origin and their ethnically matched controls. Our research approach serves as a paradigm of the unprecedented opportunities that the advent of next-generation sequencing has created towards the delineation of disease mechanisms.
Prof. George P. Patrinos
Prof. George Patrinos obtained his PhD in Molecular Biology and Genetics from the University of Athens (Greece). He currently serves as Associate Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy, as adjunct faculty at Erasmus MC, Faculty of Medicine, Rotterdam (the Netherlands) and as adjunct Full Professor at the United Arab Emirates University, College of Medicine and Health Sciences, Department of Pathology, Al-Ain (United Arab Emirates). Also, he is Greece’s National representative in the CHMP Pharmacogenomics working party of the European Medicines Agency (EMA, London, UK) and Scientific Director of the Golden Helix Foundation, a London-based UK Charity and an international non-profit research organization in the field of Genomic Medicine, focusing particularly on developing countries.
The research interests of Prof. Patrinos involve pharmacogenomics for hemoglobinopathies and neuropsychiatric disorders, transcriptional regulation of human fetal globin genes and genotype-phenotype correlation in human genetic disorders. His group is also internationally recognized for its involvement in developing National/Ethnic Genetic databases to document the genetic heterogeneity in different populations worldwide, while he also has a keen interest in public health genomics to critically assess the impact of genomics to society and public health.
Prof. Patrinos has more than 180 publications in peer-reviewed scientific journals and textbooks, some of them in leading scientific journals, such as Nature Genetics, Nature Rev Genet, Nucleic Acids Res, Genes Dev, and he is the Editor of the textbook “Molecular Diagnostics”, published by Academic Press, now in its 3rd edition. Furthermore, he serves as Associate Editor and member of the editorial board of several scientific journals, he has been a member of several international boards and advisory and evaluation committees and he is the main organizer of the Golden Helix Conferences, an international meeting series on Pharmacogenomics and Genomic Medicine. He has given numerous keynote and plenary lectures in international conferences as invited speaker and his research projects received funding from national and international funding agencies.
Dr Theodora Katsila
Dr Theodora Katsila currently serves as a senior research fellow in the Pharmacogenomics and Personalized Medicine group in the University of Patras, Greece. She obtained her Ph.D. in Chemistry from the University of Patras (Greece) and the Biomedical Research Foundation of the Academy of Athens (Greece). She holds a MSc in Clinical Biochemistry and Molecular Diagnostics (University of Athens, Greece) and a BSc in Biochemistry with a year in industry/research (Imperial College London, UK).
Dr Katsila has acquired a multidisciplinary expertise, investigating the underlying molecular mechanisms of disease (cancer, inflammation) or focusing on drug research and development (Merck Sharp & Dohme Research Laboratories, UK) and more recently, biomarkers (cancer secretome) and personalized medicine (pharmacometabolomics-aided pharmacogenomics). She has developed substantial in vivo (rodents, primates) and in vitro skills (molecular and cell biology techniques, mass spectrometry approaches). Dr. Katsila was the VHIO’s (Vall d’ Hebron Institute of Oncology, Spain) lead scientist in the effort aimed at the modeling and predicting resistance to molecular therapies in colorectal cancer (COLTHERES). She is an EACR ambassador and an Associate of the Royal College of Science (UK).