meet some of our invited speakers

Aleena studied Molecular and Biomedical Sciences at King’s College London. She joined the Quadram Institute Biosciences, UK to pursue her PhD in the field of Molecular Biology. Her PhD investigated the molecular and microbial changes in the gut-liver axis in response to the high-fibre and low-fibre Western diets. Aleena joined EMBL-EBI as an Ensembl Outreach Officer in 2021 and delivers training on Ensembl resources.

Andreas received his BSc Honours degree in Biochemistry from the University of East London and his MSc degree in Medical Biochemistry from Brunel University. In 1994 he return to Cyprus where he was hired in the Department of Electron Microscope/Molecular pathology. He was actually the first employee of the department working in the field of molecular biology and genetics. During these early days, he was responsible to equip and organize the department so that it may embark working in this very demanding field. In the meantime he was registered for his PhD with Brunel University UK which he succesfully defend in 2001 in the field of cancer genetics. Following this success, and building on the work carried out during his thesis work, the department began offering a range of diagnostic services investigating  cancer genetic syndromes in Cyprus.

Dr. Hadjisavvas has been very active in research in the fields of cancer genetics, epidemiology as well in the field of nephrology, mitochondrial and neuromuscular disorders. He has participated in more than 20 grants that were completed, either as co-investigator, collaborator or as prinicipal investigator. Currently he holds 5 grants as prinicipal investigator and in another 10 as co-investigator. He has published more than 28 original research articles and two chapters in books. He serves as reviewer for many international scientific journals. He has supervised both PhD and Master students that have succesfully completed their studies. In 2009 Brunel University awarded him the title of Adjunct Professor.  He was a founding member of the Cyprus Society of Human Genetics in 2004 and since then has been an elected member of its board of Directors. He is also currently on the BoD of the Human Genome Variation Society and represents Cyprus as the country node to the Human Variome Project. Over time, he has been appointed by the Counsil of Ministers to various National Committes. He has actively participated in the organization of several international scientific conferences and symposiums and has been invited to deliver many presentations at local and international scientific seminars and meetings.

Andreas Laner, PhD

Head of Genomics Program

Areas of Specialization

• Genetics of hereditary cancer syndromes
• Next-generation sequencing applications
• Interpretation and classification of sequence variants

Education & Experience

• Diploma in Biology, Ludwig Maximilian University, Munich
• PhD, Ludwig Maximilian University, Munich

Professional affiliations

• MGZ Munich, Head of Genomics Applications
• Member, European Society of Human Genetics
• Curator, Leiden Open Variation Database
• Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
• Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017 

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator for the German Human Genome Archive (GHGA) at the Helmholtz Munich. Since 2019 she is also a scientific collaborator at UCSC Genome Browser.

She has a PhD in human genetics and is a specialist in the field of genome sequencing and data analysis with a strong background in the clinical genetics of Rare Diseases. She has many years of experience in interdisciplinary management of laboratory technology, bioinformatics, and scientific development in academic, clinical and private practice environments.

Anna is an advocate for the use of best practices in FAIR data management and sharing strategies to maximize the use of OMICS data and improve the diagnosis of genetic disorders. She has contributed to publications on guidelines for utilization of next-generation sequencing approaches in clinical genetics testing and she is assessor of the External Quality Assessment scheme for Charcot-Marie-Tooth disease within the European Genetics Quality Network (EMQN) framework. She strongly believes in the power of education and is therefore an active member of the HUGO Education Committee and an instructor at the Variant Effect Prediction Training Course (VEPTC).

Holger Prokisch, PhD, is head of the research group “Genetics of Mitochondrial Disorders” at the Institute of Human Genetic of the Technical University Munich and of the Helmholtz Zentrum München. He has longstanding experience in the molecular analysis of mitochondrial disorders. His research focus seeks to understand genetic variation in both rare and common disorders leading to mitochondria-related dysfunction. He was very successful in integrating genomic approaches with detailed functional biochemical investigations. By applying WES, his group has contributed to the discovery of more than 50 novel disease genes and to the diagnosis of more than 1,000 patients. In his work, Dr. Prokisch undertakes genomic, proteomic, metabolomic, and transcriptomic studies and accomplishes computational analysis to produce a comprehensive picture of mitochondrial dysfunction. Dr. Prokisch coordinates two Eurasian networks for mitochondrial disorders (GENOMIT and PerMiM).

Irene has many years of experience in clinical genomics, bioinformatics, and diagnostic reporting. As part of our product management team, she helps us to shape varvis® and to support and train customers and clients.

Jan is a Professor of Genetics, and Director of the Laboratory of Medical Genetics, Athens University, and has over 30 years of experience in molecular genetics. Originally from the UK, where she graduated with a BSc in Physiology and Biochemistry from Reading University and a Doctorate (DPhil) at Oxford University, (under Sir Professor David Weatherall), she moved to Greece in 1982 and since 1983 has worked in the university clinics (pediatrics and genetics) of the St. Sophia’s Children’s Hospital in Athens. In 2005 she became a member of Athens University Medical School, in the Laboratory of Medical Genetics. Jan has wide experience with molecular diagnostics for many monogenic diseases. She is an internationally recognized expert in the hemoglobinopathies and also preimplantation genetic diagnosis (PGD), and has contributed to publications on Best Practice Guidelines for both topics. Her main research activities focus on investigating the molecular genetics of monogenic diseases and also the development of methods for molecular diagnostics. She has also participated in an EU-funded project which focused on Introducing diagnostic applications of next-generation sequencing in human genetics. She has over 150 peer-reviewed publications in international journals and chapters in several books. 

Jan is a long-term member of the European Society of Human Genetics (ESHG) and the European Society of Human Reproduction and Embryology (ESHRE), serving on the Steering Committee of the ESHRE PGD Consortium between 2004-2016, and as Chair between 2012-2014.  She is also a member of the Special Advisory Group for External Quality Assessment for PGT through GenQA and The Haemoglobinopathy Expert Panel, recognised by the Clinical Genome Research (ClinGen).

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]). 

Lena holds a PhD in Molecular Biology and has extensive experience in optimization and automation of processes in research and clinical environments. As the head of product management and service at Limbus, she is a key link between software development and customers.

Leslie Matalonga obtained a PhD in Biomedicine (University of Barcelona) and worked at a clinical Group in Hospital Clínic de Barcelona for 7 years. Since 2017, Leslie joined the CNAG-CRG Bioinformatics Unit as Clinical Genomics Specialist. She works in the analysis and interpretation of genomic data from patients with rare diseases. She works in collaboration with the developer team of the RD-Connect GPAP (https://platform.rd-connect.eu/ ) and coordinates part of the new features to be added. She has been involved in several national and internal projects towards rare disease genomic diagnostics and research such as URD-Cat, NAGEN 1000G and Solve-RD, where she is leading a working group on exome re-analysis through APIs. She is also a member of the ELIXIR Rare Disease Community and is an author of 21 international publications.

Prof Makrythanasis received his Medical Degree from the University of Athens, Medical School, Greece and got his PhD from the same University in the field of Human Genetics. He got specialized in Medical Genetics in Geneva Switzerland and received his Privat Docent from the University of Geneva for his research in the identification of novel genes responsible for monogenic disorders through the study of consanguineous families. After his return in Greece he worked at the Greek Genome Center of the Biomedical Research Foundation of the Academy of Athens, before joining the Medical School of the University of Athens, where he currently holds the position of Assistant Professor in Medical Genetics.

Rachel obtained her PhD in Genomics from the University of Manchester before undertaking an International Fellowship at Columbia University Irving Medical Centre, New York, and a Medical Research Council Rutherford Fellowship at the University of Manchester, UK.  For over a decade, Rachel held a unique position working at the interface of clinical genetics, genomic laboratory diagnostics, and patient-centred clinical research, in one of the largest genomics centres in Europe, Manchester Centre for Genomic Medicine (MCGM) within Manchester University NHS Foundation Trust (MFT).  During this time, she benefited from training in NHS Genomic Diagnostics and working at the forefront of healthcare innovation via her research focussed on the introduction of novel technologies into the NHS, to innovate diagnostic pipelines and improve clinical outcomes via the implementation of stratified genomic medicine approaches to patient care.  Since 2012, Rachel has worked as an active member of a highly successful multi-disciplinary team that revolutionised NHS diagnostic testing for congenital ophthalmic and inherited retinal disease patients, by directly translating research innovations for diagnostic use.  This work increased the diagnostic rate of inherited retinal disease from <15% in 2012 to 80% in 2020, and extended access to genetic testing for approximately 10,000 patients from 47 different countries.  Rachel has expertise in the genetics of rare developmental, metabolic, and ophthalmic conditions, enabling her to consult on variant interpretation at NHS multi-disciplinary team meetings and teach ophthalmic specialists about the role of genomics in the clinical management of their patients at the Royal College of Ophthalmologists.  This expertise is evidenced by her publication of 30 peer-reviewed original research manuscripts and several book chapters on these topics.  In 2019, she received the John Marshall Scientist of the Year Award from Retina UK, in recognition her work identifying a novel mechanistic entity underlying age-related macular degeneration (AMD). 

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast.  Following a postdoctoral fellowship studying photoreceptor genes in plants at UC Berkeley, he taught biochemistry, genetics and molecular biology at the University of California Santa Cruz.  

He joined the UCSC Genome Browser project in 2003, retiring as Associate Director in 2022.  The Genome Browser is a widely used visualization tool giving access to the genomes of human, model organisms and more than one hundred other animals.  Dr. Kuhn's responsibilities included influencing the growth and interface of the Browser, identifying important datasets for inclusion into the Browser and enabling researchers worldwide through in-person workshops and seminars as well as the YouTube channel.  He has now taught more 300 presentations (https://bit.ly/kuhnTalks).  He has a particular interest in the support of clinical geneticists teaching the use of online databases and tools for interpreting data.  

Dr Kuhn is now operating as Robert Kuhn Consulting, where he continues to offer Browser trainings, bioinformatics consultation and educational materials. 
 

Professor Vincent Harley leads the Sex Determination and Gonadal Development Research Group in the Centre for Endocrinology and Metabolism. He previously held positions in the UK (Imperial Cancer Research Fund Laboratories, London, and Department of Genetics at Cambridge University) and at the Howard Florey Institute in Melbourne, before joining the Prince Henry’s Institute, now Hudson Institute of Medical Research, in 2000.

Prof Harley’s research focuses on transcription factors and their role in health and disease, with a particular focus on the sex determining gene, SRY, and its contribution to sex (male) bias in certain neurological disorders, such as Parkinson’s disease, ADHD and schizophrenia. A second research aim is to establish the biological basis for gender identity through genetic analyses of transgender individuals.

His expertise lies in molecular genetics, sex differentiation, organ development and gene regulation.

Selected publications

Lee J, Pinares-Garcia P, Loke H, Ham S, Vilain E, Harley V (2019) Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson’s disease. Proceedings of the National Academy of Sciences of USA 116(33):16577-16582

León NY, Reyes AP, Harley VR (2019) A clinical algorithm to diagnose differences of sex development. The Lancet Diabetes & Endocrinology 7(7):560-574

Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A (2018) Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. Nature Communications 9(1):5319

Bowles J, Feng C-W, Ineson J, Miles K, Spiller CA, Harley VR, Sinclair AH, Koopman P (2018) Retinoic acid antagonizes testis development in mice. Cell Reports 24(5):1330-1341

Foreman M, Hare L, York K, Balakrishnan K, Harte F, Erasmus J, Vilain E, Harley V (2018) A genetic link between gender incongruence and sex hormone signalling. The Journal of Clinical Endocrinology & Metabolism 104(2):390-396

Rahmoun M, Lavery R, Laurent-Chabalier S, Bellora N, Philip G, Rossitto M, Symon A, Pailhoux E, Cammas F, Chung J, Murphy M, Bardwell V, Zarkower D, Boizet-Bonhoure B, Clair P, Harley V, Poulat F (2017) In mammalian foetal testes, SOX9 regulates transcription and splicing of its target genes by binding to genomic regions with conserved signatures. Nucleic Acids Research 45(12):7191-7211

Ono M, Harley V (2013) Disorders of sex development: new genes, new concepts. Nature Reviews Endocrinology 9(2):79-91

Bagheri-Fam S, Argentaro A, Svingen T, Combes A, Sinclair A, Koopman P, Harley VR (2011) Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. Human Molecular Genetics 20:2213-2224