ESHG Precision Genomic Medicine Hybrid Workshop: A Focus on Clinical Utility

Dr. Biesecker is a Distinguished Investigator, and Director of the Center for Precision Health Research at the National Human Genome Research Institute of the National Institutes of Health, which he joined in 1993. He uses genetic and genomic technologies to study the etiology of genetic disorders and has published over 300 primary research articles, reviews, and chapters and developed the ClinSeq® program, which began clinical genomics research in 2006, before the widespread availability of next generation sequencing. He is double board certified in Pediatrics and Medical Genetics. He was elected to the National Academy of Medicine of the National Academy of Science in 2018 and was the President of the American Society of Human Genetics for 2019.

Anneke Lucassen is Professor of Genomic Medicine in the Nuffield Department of Medicine, and director of the Centre for Personalised Medicine at the University of Oxford.

Her research programme addresses what needs to happen to ensure the benefits of genomic discovery are successfully translated into clinical practice and society.

She is an honorary consultant at Oxford’s regional genetic service, has held a range of national roles and co-leads the UK’s Genethics forum.

Professor Andrew Green is a clinical geneticist in the Department of Clinical Genetics at Children’s Health Ireland at Crumlin, Dublin since 1997 and is Professor of Medical Genetics at University College Dublin. His medical degree is from University College Dublin in 1984 and his PhD in 1995 was from Cambridge University where he studied with Nobel Laureate Sydney Brenner, and also completed his clinical genetics training, and held a consultant / university lecturer post.

He has been a qualified specialist in clinical genetics since 1995.

He is a full time clinical geneticist, seeing families affected by or at risk of genetic disease. He also has numerous research interests, including the genetics of tuberous sclerosis, the genetics of autism, genetic diseases in the Irish Traveller population, and the implementation of new genetic testing into clinical service. He has been a PI on the international autism genome project.

He is an author on over 170 scientific papers, including publications in the journals Science and Nature.

He has a longstanding interest in medical ethics and genetics, and has been a member of the Irish Council for Bioethics, the Commission for Assisted Human Reproduction, numerous health service committees, and has been chair of the research ethics committees in Our Lady’s Children’s Hospital Crumlin and UCD.

Prof Aideen McInerney-Leo trained as a genetic counsellor in the UK before moving to the US to conduct clinical research at the National Institutes of Health and she was associate director of the NIH/Johns Hopkins University Master of Genetic Counselling program. Upon moving to Australia, she worked clinically, and as acting co-convenor of the Griffith Master of Genetic Counselling program, before commencing her PhD.

She now leads her group, Integrating Genomics into Medicine, within the University of Queensland, which develops educational interventions for clinicians and patients, and alternate models of care to facilitate mainstreaming of genetic testing. Aideen currently chairs the Human Genetics Society of Australasia’s (HGSA) Accreditation Committee for Genetic Counselling MSc programs.

She is also a member of the Board of Censors for Genetic Counselling and former co-chair of the Education, Ethics and Social Issues Committee of the HGSA. Aideen was also recently elected as the President of the Australasian Society for Dermatology Research.

Dr Shauna Quinn is  currently completing her final year on the Paediatrics Basic Specialist Training Program having completed her first year on the Clinical Genetics HST. She graduated from Trinity College Dublin 2018. Following completion of internship, she spent two years working in the Australian Healthcare system before returning home to Ireland.

Dr Quinn has been involved in a number of committees, including being the Physician health and wellbeing deputy chair on the RCPI trainees committee. She has attained a Pg Cert

and Diploma in Health Professions Education with UCC, as well as completing research on genetic knowledge, experience and educational needs of paediatric trainees in Ireland

Yuxin Woon is a first- year Specialist Registrar in Clinical Genetics. She completed her Basic Specialty Training in Paediatrics and hopes to bring her paediatric expertise to inform day- to day genetics practice.

Dr Shane McKee is a Consultant in Genetic and Genomic Medicine at the Northern Ireland Regional Genetics Service based at Belfast City Hospital. He is Clinical Director for the Regional Molecular DIagnostics Service and Deputy Chief Clinical Information Officer for the Belfast Trust.

He led Northern Ireland's input to the DDD-UK study and the UK 100,000 Genomes Project and has been Deputy Medical Lead for the implementation of the Epic Electronic Health Record in Belfast Trust (the #encompassNI project). He currently leads the "Action 27" project arising from the Northern Ireland Cancer Strategy to implement personalised medicine in cancer genomics and identify patients with potential inherited cancer susceptibility in order for them and their families to receive appropriate follow-up.

Spinning out from these projects he is developing the GenOCEANIC open standards platform to facilitate registries, data sharing and analytics across the healthcare ecosystem. He enjoys getting out on the bike, and has a longstanding connection with Nazareth EMMS Hospital in Northern Israel, having undertaken a number of fundraising bike rides in the Middle East to support this beacon of peace and co-existence in a troubled region.

Benedikt Hallgrímsson is Professor and Head of the Dept of Cell Biology & Anatomy at the University of Calgary. He is the Deputy Director of the Alberta Children’s Hospital Research Institute and co-leads the Canada First Research Excellence Program “One Child Every Child” which aims to improve outcomes for child health in Canada. The central motivating question of his research program is how genetic and environmental influences impact developmental systems to produce anatomical variation.

His program uniquely integrates advanced imaging and measurement (morphometrics) with developmental biology to understand the underlying mechanisms for phenotypic variation. His work extends to the mechanisms that underlie structural birth defects such as craniofacial anomalies, to the anatomical aspects of genetic disease as well as the relationship between evolution and development. Hallgrímsson was awarded the Rohlf Medal for Excellence in Morphometrics in 2015 and is a Fellow of the American Association for the Advancement of Science (2019) as well as the Canadian Academy of Health Sciences (2020).

Alexander has developed auditable standards for AI in healthcare with the British Standards Institution as an editorial panel chair. Alexander is a theme lead in the Alan Turing Institute Clinical AI Interest Group.

Alexander is the Clinical Lead of the Genomic AI Network of Excellence.

Alexander is the Programme Lead for the NHS Fellowship in Clinical Artificial Intelligence, and author of the accompanying Clinical Artificial Intelligence Curriculum. This unique programme equips NHS healthcare leaders with the expertise to deploy and evaluate AI in clinical workflows.

Ed gained his medical degree, as well as his BSc and PhD in molecular biology, in Scotland, at Glasgow University. He is a multi-award-winning genomics educator (on undergraduate and postgraduate courses and programmes, including the university’s renowned MSc in Medical Genetics and Genomics). He is an honorary NHS consultant in clinical genetics and also carries out clinical genomic research. An active invited member of the Education Committee of the European Society of Human Genetics (ESHG) and the Exam Committee of the UEMS-ECMGG specialty examination, he is an enthusiastic developer of digital genomics learning resources used worldwide. These include smartphone genomics apps, 3D-molecular-viewing virtual reality software (shortlisted for a UK Technology Award), online courses, MOOCs, textbooks and the ESHG’s eurogems.org website. In recognition of his international educational contributions, he received the European ESHG Education Award in 2021. He is enormously grateful to all of his colleagues in Glasgow University, in the NHS, and internationally, for all of their invaluable assistance and support.

Gianpiero Cavalleri  is Prof of Human Genetics at the Royal College of Surgeons in Ireland. He leads the Diagnostics component to the FutureNeuro Research Ireland Centre for Translation Brain Science, where his team employs a variety of genetic approaches to identify new genetic causes of epilepsy and enhance diagnostic accuracy in the epilepsy clinic.​

Daniel Murphy completed his PhD in 2012 under the supervision of Prof. Aoife McLysaght in The Smurfit Institute of Genetics, Trinity College Dublin. Since then he has spent time working at The Wellcome Sanger Institute, the European Bioinformatics Institute (EMBL-EBI), The Mater Hospital, and a Dublin-based MedTech startup.

In 2023 he returned to academia, taking on the role of Assistant Professor in Bioinformatics at the School of Biology and Environmental Science, University College Dublin. In addition to lecturing in UCD, Daniel spends a semester each year teaching bioinformatics and scientific communication to undergraduate students in South China Agricultural University (SCAU) in Guangzhou, China, as part of the Guangzhou Dublin International College of Life Sciences & Technology (GDIC).

His main research interests are in genomics, transcriptomics, clinical bioinformatics and precision medicine.

Dr. Nicola Walsh is a Specialist Registrar in Clinical Genetics at Children’s Health Ireland (CHI), Dublin.  She holds an MSc in Genomic Medicine from Trinity College Dublin and has recently completed the European Certificate in Medical Genetics and Genomics.

She is involved in projects exploring variant reclassification, machine learning applications in genomics, and standardized diagnostic strategies for rare conditions in paediatrics. 

Jesse Swen PharmD, PhD is a full professor of clinical pharmacy, in particular translational pharmacogenetics.

He works as a clinical pharmacist-clinical pharmacologist at the Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center where he is the chair of the laboratory of the hospital pharmacy.

The long-term central goal of his career is to improve the outcomes of drug treatment by gaining a better understanding of the genetic mechanisms that result in inter-individual variability in drug response.

To this end, he is working on the following research topics:

 

• Dissecting the impact of rare, structural and regulatory variants on drug absorption, distribution, metabolism, and excretion (ADME)
• Elucidating the mismatch between the drug metabolizer genotype and the capacity of an individual to metabolize drugs (phenoconversion).
• Translating pharmacogenomics to patient care.

This work is seamlessly integrated with his work as chair of the pharmacy laboratory. He has (co-) authored more than 150 (Web of Science indexed) articles in international peer reviewed scientific journals and several chapters in books. He is one of the primary investigators of the “Ubiquitous Pharmacogenomics” project (www.upgx.eu) and leader of the PREPARE trial that assessed the clinical utility of pharmacogenetics panel testing across 7 European sites. In addition, he is an active member of the Dutch Pharmacogenetics Working Group (DPWG) and the US Clinical Pharmacogenetics Implementation Consortium (CPIC).

Weblinks

ORCIDid

https://orcid.org/0000-0002-3965-5552

PubMed

Swen j[Author] OR Swen jj[Author] NOT Swen JW[Author] AND ("2006/09/18"[PDat] : "2023/12/31"[PDat]) - Search Results - PubMed (nih.gov)

LinkedIn

https://www.linkedin.com/in/jjswen/

Prof James O’Byrne is a Consultant Clinical Geneticist and Metabolic Physician who uses uses precision genomic medicine in his clinic.

He is the Clinical Lead at the Adult National Centre for Inherited Metabolic Disorders - Mater Misericordiae University Hospital (MMUH) and Associative Clinical Professor in the School of Medicine, University College Dublin.

Prof O’Byrne is the current General Secretary of the Executive of the European Board of Medical Genetics and a council member of the Irish Society of Human Genetics and European Society of Human Genetics Education Committee.

Prof O’Byrne is also Co-lead for Ireland’s consortium to the European Reference Network (ERN) for Metabolic Disease Disease (MetabERN).

He holds a PhD from the Karolinska Institute, Stockholm and completed a clinical fellowship at British Columbia Children’s Hospital and Vancouver General Hospital, working with patients with treatable genetic disorders that result in intellectual disability. He has authored or co-authored over 50 peer reviewed publications and 4 book chapters.

He has a deep interest in education, lectures in the fields Clinical Genetics/Genomics, Metabolic Medicine, and Rare Diseases and established the bi-annual ESHG course entitled Precision Genomic Medicine: A Focus on Clinical Utility.

Dr John McDermott is a Clinical Geneticist and an NIHR Academic Clinical Lecturer at the University of Manchester. His research focuses on the application of genomics in acute and everyday healthcare settings, with a specific interest in pharmacogenomics. Dr McDermott currently leads a range of academic programmes investigating the implementation of genomics in global health systems, exploring the interface between genomics, informatics and service development.

Jane Farrar is Professor and Head of the School of Genetics and Microbiology at Trinity College Dublin (TCD). Jane has strong track record in the field of ocular disorders with research interests including elucidation of the genetic pathogenesis of hereditary and multifactorial eye disorders and development of novel gene therapies for these conditions employing adeno associated virus (AAV) for gene delivery.

Jane has generated research funding of €20 million from national and international funding agencies and has extensive publication and patent portfolios with a number of licensed patents. Jane together with colleagues throughout Ireland have elucidated the genetic architecture of inherited retinal degenerations (IRDs) in Ireland sequencing ~2,500 IRD cases, and furthermore have explored novel gene-based medicines for some of these disorders. Her team generated innovative therapeutic solutions for IRDs leading to a portfolio of granted patents and generation of a spin-out company, Genable Technologies, acquired in 2016 by Spark Therapeutics, US (subsequently Roche).

Her team’s current research continues to have both strong fundamental and translational aspects deciphering modes of action of novel mutations causing ocular disease and targeting the role of perturbed cellular bioenergetics in ocular disorders, highlighting new therapeutic avenues, generating new innovations and demonstrating proof-of-concept for these overarching therapeutic strategies for ocular disorder. Jane has published over 160 peer-reviewed publications, has supervised 27 PhD students and 4 MSc students.

Jane has trained many post-doctoral scientists at the early stages of their careers, together with mentoring a significant number of senior research scientists and ophthalmology fellows. Jane has been involved in many national and international boards inter alia Foundation Fighting Blindness US, Retina UK, UsherTher consortium (EU/Italy), Wellcome-HRB Clinical Research Facility (Ireland), Royal Victoria Eye and Ear Hospital and Trinity Institute of Neuroscience (TCIN), among others and contributes to the peer review processes for many scientific journals and funding agencies.

Prof David Keegan MB BCh BAO; LRCP&SI. MMedSc (Anat); FRCSI(Oph); FRCOphth; PhD

UCD Clinical Professor of Ophthalmology and Retina, UCD School of Medicine, University College Dublin.

Prof Keegan is the lead for Ireland’s consortium to the European Reference Network for Rare Eye Disease (ERN-EYE Ireland Consortium:- EEIC) and The Pan European ERN EYE rare Eye Disease Registry (REDgistry).

Regional Clinical Eye Care Transformation Lead North East.

National Clinical Lead for Diabetic Retinopathy Screening and Target 5000 (All-Ireland Inherited Retinal Degeneration Programme.

A graduate of the Royal College of Surgeons in Dublin, he trained in Ophthalmology at Moorfield’s Eye Hospital, London (1997-2005), attained his PhD from UCL and followed that with a prestigious International Fellowship in Complex Vitreo-retinal Surgery, New York Presbyterian, Columbia University New York (2005-2006) with Prof Stanly Chang.

He specialises in medical and surgical retinal disease including paediatric retinal surgery.

He runs the Mater Retina Research Group and their interests include Inherited Retinal Disease, Macular Degeneration (Biomarkers and Low vision devices), Diabetic retinopathy, Artificial Intelligence and Enhanced Imaging.

He and his team performed the first Ocular Gene Therapy in Ireland at the Mater in Nov 2024.

Dr. Joseph Galvin is a Consultant Cardiologist in the Mater University Hospital who previously trained in the University of Vermont and Massachusetts General Hospital, Boston. His has a special interest in Cardiac Electrophysiology, Cardiac Genetics, Inherited Cardiac Conditions and Prevention of Sudden Cardiac Death.

Dr. O'Rourke is a Paediatric Neurologist and Neuromuscular Specialist at Children's Health Ireland at Temple Street. He leads the Paediatric Neuromuscular service across Ireland and the treatment centre for children with Spinal Muscular Atrophy at CHI.

He is Principal Investigator in a number of neuromuscular clinical trials and registries in the areas of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.

He is Associate Director of Research at Children’s Health Ireland and Associate Clinical Professor at UCD.

Prof. Peter Doran earned his BSc. from Dublin City University in 1998 and his PhD from University College Dublin in 2001. He is the Director of the UCD Clinical Research Centre, Director of Research at St Vincent’s Healthcare Group and Prof of Clinical Trials at the UCD School of Medicine. Prof Doran leads UCD’s multisite-clinical research and directs its major investigator initiated trials programme. Prof Doran has a significant track record in the leadership of clinical research and has established a significant programme at UCD.

The clinical research, directed by Prof Doran, helps discover ways to improve medical care and to establish new treatments which in turn will improve the quality of life for patients who are living daily with chronic illness. The CRC contributes to ongoing research creating a scientific and caring culture for the benefit of present and future patients and medical research contributes to the development of new cures and better treatments. Prof Doran leads a major research programme in trial methodology including novel trial designs, predictive modelling and better trial outcomes.

Prof Doran also leads the UCD-Abbott Biomarker programme, which has established a high throughput biomarker validation laboratory, which is contributing to major national and international end organ damage biomarker studies, reflecting his research interests in the molecular drivers of organ damage, biomarker discovery and translation to practice. In addition to his research and leadership roles, Prof Doran established and previously led the graduate taught programme in clinical and translational research at UCD and Chaired the Biomedical research Degrees Committee at the UCD School of Medicine.

He was previously Associate Dean for Research at the UCD School of Medicine, Vice Principal for Research, Innovation & Impact at the UCD College of Health and Agricultural Science and Director of the Institute for Clinical Trials at the University of Galway.

Dr. Karl Kavanagh, a 2016 Medicine graduate from Trinity College Dublin, he is in his final year of higher specialist training in Clinical Genetics. Karl has a particular focus on education and clinically on precision medicine therapeutics.

Karl was a special lecturer for the UCD School of Medicine 2023-2024 and the subject of his doctorate is interactive learning methods for genetics and genomics in an undergraduate medicine degree programme.

Karl’s other main focus and aim is the application of modern molecular diagnostic techniques to deliver precision therapeutics to individuals with inborn errors of metabolism under the biochemical genetics service here in Dublin.

Dr. Caluseriu is a medical geneticist with a clinical and research focus on rare disorders affecting primarily prenatal and pediatric age. Characterizing human phenotypes is the mainstay of her clinical practice and is a fundamental step towards exploring the molecular basis and underlying mechanisms of genetic disorders. Identifying a cause for a genetic condition is central for building a personalized management of both the patient and their families including genetic testing, family genetic counseling and planning, and access to community resources.

The thrust of Dr. Caluseriu's research is the application of next generation sequencing (NGS) techniques that enable gene identification and functional characterization of genomic variants with impact on patient's diagnosis. She is the leader of a precision medicine initiative, the Translational Genomics Hub (TGH; Translational Genomics Hub – WCHRI) under the auspices of the Women & Children's Health Research Institute, a resource that helps facilitate the interpretation of NGS data and exploration by functional studies of relevant variants. Bridging the gap between clinicians and basic researchers, TGH is directly involved in characterizing the genetic and functional basis of human variation as relevant to clinical practice.

I am a Consultant Clinical Geneticist at the Mater Misericordiae University Hospital, namely in the National Cardiac Genomic Service, member centre of ERN GUARD-HEART, where I have focused on the diagnosis, genetic counselling and clinical management of inherited cardiac conditions. At the same time, I work closely with the Mater NGS Laboratory and also collaborate with the National Centre for Inherited Metabolic Disorders, member centre of MetabERN, as well as supporting other hospital specialties.

After graduating from NOVA Medical School - NOVA University Lisbon, I completed my Higher Specialist Training in Clinical Genetics from Central Lisbon University Hospital Centre in Lisbon, Portugal. As such, for the last years I have been entirely dedicated to the area of rare diseases and had the opportunity to participate in different national and international projects, training courses and conferences. Other areas of my interest are hereditary cancer, prenatal diagnosis, and deafness.

MB BAO BCh LRCP & SI MRCPI MD FRCPI

Sally.lynch@ucd.ie

Consultant Clinical Geneticist at CHI Temple Street and CHI Our Lady’s Children’s Hospital Crumlin, Dublin 12 (since 2004). Professor at University College Dublin.

Awards

I scripted 13 animation videos, two translated into Spanish, French, Italian, Polish, Maltese & Portugese.

The videos are on inheritance patters (Autosomal dominant and recessive & X-linked recessive), consanguinity, Chromosome translocation (Robertsonian, reciprocal, pericentric and paracentric inversions, insertional translocations, variant of unknown significance and copy number variation and two on “How to draw a family tree”).

All videos are on EuroGEMS.org Home page . Collectively, the videos have had > 1,500,000 views in > 200 countries.

 

• Health Research Charities Ireland Research Impact award inaugural winner Dec 2022
• Best Research paper Irish Healthcare Awards 2022
• Education & Innovation Rare Diseases | UCD School of Medicine

Training

I set up the first Clinical Genetics Training scheme in the Republic of Ireland through the Royal College of Physicians in Ireland which was launched in Nov 2012.

• Professional roles Member of UEMS UNION EUROPÉENNE DES MÉDECINS SPÉCIALISTES
• Republic of Ireland Co-ordinator for ERN ITHACA (European Reference Network)
• Member of Educational Committee European Society of Human Genetics
• Adelaide Health Foundation: Study of Genetic testing and genetic counselling services in Ireland Report published 14/11/2024 https://adelaide.ie/wp-content/uploads/2024/11/Report-GeneticCounsellingandTesting-web-version.pdf
• Children’s Health Ireland GAP funding: Commencing Dec 2024. A pilot project with Pavee point and Rotunda maternity hospital to offer Galactosemia carrier testing to woman from the Irish Traveller population

Publications

Author > 200 peer reviewed publications.

Recent Publications (of relevance)

Lynch SA, Crushell E, Lambert D, B et al. A Catalogue of inherited Genetic disorders found amongst Irish Travellers. J Med Genet. 2018 Apr;55(4):233-239.

• Lynch SA, Crushell E, Lambert D, B et al. A Catalogue of inherited Genetic disorders found amongst Irish Travellers. J Med Genet. 2018 Apr;55(4):233-239.

• Forman EB, Lynch SA, Knerr I, Monavari A, Hughes J, Boruah R, Green A, Crushell E. An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population. Eur J Pediatr. 2023 Jan;182(1):31-40. doi: 10.1007/s00431-022-04697-0.

• Sasaki E, Kostocenko M, Lang N, Clark T, Rogers M, Muldowney R, Walsh O, O'Grady L, Edge G, Ward A, Linnane B, Borovickova I, Barton DE, Lynch SA. National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years. Eur J Hum Genet. 2020 doi: 10.1038/s41431-020-0661-5.PMID: 32483343

• Gunne E, Lambert DM, Ward AJ, Murphy DN, Treacy EP, Lynch SA. An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature. Eur J Hum Genet. 2022 Jul 19. doi: 10.1038/s41431-022-01144-4. PMID: 35853949

• Gunne E, McGarvey C, Hamilton K, Treacy E, Lambert DM, Lynch SA. A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland. Orphanet J Rare Dis. 2020 Nov 4;15(1):311. doi: 10.1186/s13023-020-01574-7.PMID: 33148291

• Murphy J, Kirk CW, Lambert DM, McGorrian C, Walsh R, McVeigh TP, Prendiville T, Ward D, Galvin J, Lynch SA. Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance. Ir J Med Sci. 2024 Aug;193(4):1775-1785. doi: 10.1007/s11845-024-03650-4. Epub 2024 Mar 15. PMID: 38489124

Professor Sally Ann Lynch Profile

Sinéad has over 15 years’ experience in research and diagnostic genomics.  She received her PhD from the National University of Ireland, Galway.  She then worked as a Clinical Research Scientist at the Epilepsy Research Centre at the University of Melbourne, Australia for a number of years.

Upon returning to Ireland, Sinéad undertook an Irish Research Council Enterprise Partnership Postdoctoral Fellowship at the Royal College of Surgeons in Ireland (RCSI), where she played a key role in the development of epilepsy genetic testing at Beaumont Hospital.  She joined the Mater Hospital in 2017 and helped establish the ISO15189 accredited Genomics Laboratory, the first of its kind in Ireland, where she now leads the scientific team performing diagnostic genomic testing.

John Coleman is a clinical genetics specialists registrar completing his training in Ireland. He completed his basic training in paediatrics and has spent time working at the National Centre for Inherited Metabolic Disorders at the Mater, Paediatrics Metabolic service at CHI Temple St and the clinical genetics department at CHI Crumlin.

He recently returned from a year long fellowship at the MCRI & RCH Melbourne researching rapid genomic testing in early onset paediatric epilepsy. His areas of interest include paediatric neurology and rare paediatric developmental disorders.