Keynote Speakers

HGSA Oration:
Distinguished Prof Lyn Griffiths AM

Centre for Genomics and Personalised Health, QUT 
Director, Bridge and BridgeTech Programs 

Distinguished Professor Griffiths is a molecular geneticist with more than 30 years’ research experience. She undertakes research focused on identifying genes involved in common traits and disorders including migraine, cardiovascular disease, memory, dementia and concussion.  She is Director of the Centre for Genomics and Personalised Health which aims to discover better methods of diagnosing disease, developing targeted treatments based on genetic information, and training the next generation of genomics scientists. DProf Griffiths is a passionate advocate of the translation of medical research through commercialisation and is the Director of the MTP Connect and industry led Bridge and BridgeTech programs, undertaking commercialisation training for the pharmaceutical and medical devices technology fields across Australia, respectively. DProf Griffiths’ own genetics research at the Genomics Research Centre has led to diagnostic breakthroughs for several neurogenetic disorders, including familial migraine, ataxia, epilepsy and hereditary stroke and also led to the establishment of a new Defence Innovation Hub which is using next generational DNA technology to identify the remains of missing servicemen.  The Hub is utilising a DNA techniques, whole genome sequencing and genetic profiling of family reference samples to aid in this remains identification.  Prof Griffiths’ research has appeared in > 430 peer-reviewed international publications and she has obtained significant competitive and industry research funds to support her research team. 

Sutherland Lecture

A/Prof Aideen McInerney-Leo

Principal Research Fellow, Frazer Institute

Dr McInerney-Leo is a clinician-academic whose interactions with patients have shaped her research questions and fuelled her enthusiasm for the importance of clinical research. Aideen has trained as a genetic counsellor and her research now focuses on the integration of genomics into clinical care. Her research program has had three primary themes: evaluating the psychosocial impact of genetic conditions and/or genetic testing; evaluating genetics education preferences for patients and healthcare providers; and using next-generation sequencing to increase diagnostic yield for rare disorders. Current research projects include: Exploring whether genetic fatalism affects sun-related health behaviours in high-risk individuals following genetic testing; Exploring the referral journey to genetic services for individuals with rare diseases; Assessing Human Research Ethics Committee (HREC) members' confidence in reviewing genomic research applications; Mainstreaming Genetic Testing for Melanoma into Dermatology Practice; Using Exome sequencing to identify new genes in families with inherited melanoma, negative for mutations in known genes.

Dr Karen Gripp

Co-sponsored by AACG

Karen W. Gripp, MD is the Chief of the Division of Medical Genetics at the Nemours Childrens’ Hospital in Wilmington, Delaware, USA. She is a Professor of Pediatrics at the S. Kimmel Medical College at T. Jefferson University, Philadelphia, Pennsylvania. Dr. Gripp is board certified in pediatrics and medical genetics. Her clinical research focuses on Costello syndrome and other RASopathies. She has been instrumental in delineating novel conditions including Aymé-Gripp syndrome, lateral meningocele syndrome and most recently, fetal fentanyl syndrome. Dr. Gripp has co-authored >180 peer reviewed publications. Her interest in machine learning supported facial feature analysis in the context of clinical genetics led her to collaborate with FDNA, the company offering the Face2Gene application. She is now the CMO for FDNA.Her professional activities include participation in the ClinGen expert panels on RASopathies and on inherited cancer predisposition. She serves as the VP Clinical Genetics on the board of the American College of Medical Genetics and Genomics.

Dr Steven Harrison

Co-sponsored by ASDG

Steven Harrison, PhD, FACMG, is a board-certified molecular geneticist working as a Laboratory Director at Ambry Genetics. His work focuses on variant classification approaches and standardization at both a CLIA-certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which aims to develop general recommendations to the ACMG-AMP variant interpretation guidelines. He completed his PhD in Genetics & Development in 2014 at the University of Texas Southwestern Medical Center and completed his ABMGG Clinical Molecular Genetics and Genomics fellowship in 2018 at Harvard Medical School.

Dr Simon Jones

Co-Sponsored by ASIEM

Dr Simon Jones is a consultant in paediatric inherited metabolic diseases at the Willink Unit at Saint Mary’s Hospital.He received his medical training at the Edinburgh University Medical School, Edinburgh, UK, with a BSc in Neurosciences. He moved to London and trained in Paediatrics at Guy’s and St. Thomas’ Hospital, London, UK.  He has been working at the Willink Biochemical Genetics Unit in Manchester since September 2005. Since 2008, he has been a consultant in paediatric inherited metabolic diseases at the Willink Unit and is now the clinical lead for the LSD service. The Willink Unit is now part of the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital.Dr. Jones has been actively involved in many phase I-IV international multicentre trials of novel therapies for LSD’s. He is currently the principal investigator in a number of LSD trials, and a senior lecturer at the University of Manchester. He is an author of over 150 peer-reviewed papers and 3 book chapters.His major research interest is therapy for lysosomal storage diseases (LSD’s).

Dr Rhona Macleod

Co-Sponsored by ASGC

Dr Rhona MacLeod is a consultant genetic counsellor at Manchester Centre for Genomic Medicine, UK. She has over 30 years’ experience in genetic counselling practice, education, and research. Rhona’s main clinical interest is genetic counselling for adult onset neurogenetic conditions. Her interest in the family impact of a new genetic diagnosis can be traced to her experience as a nurse at the Institute of Neurological Sciences, Glasgow, and whilst working at the Psychological Medicine Unit at the Christie cancer hospital in Manchester. She is academic pathway lead for the nationally commissioned MSc Genomic Sciences, Genomic Counselling, at the University of Manchester since its launch in 2016, and prior to that was programme director of the 2-year MSc Genetic Counselling (2011-2017).  Rhona is committed to incorporating research developments in teaching counselling approaches to genomic counselling practice. She is a recipient of teaching awards and is an honorary fellow of the Institute of Teaching and Learning. Since 2011, she has been involved in a GC narrative counselling supervision group with Mariangels Ferrer Duch and in collaboratively developing workshops as a way of integrating narrative ideas into genomic counselling practice. Rhona is a board member of the Transnational Alliance for Genetic Counselling and co-lead for the European Huntington’s Disease Network (EHDN) working group ‘Genetic Counselling and Testing’.

A/Prof Maaike Vreeswijk

Sponsored by HGSA

Associate Professor, Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Maaike Vreeswijk is a medical biologist who earned her PhD in the field of DNA Damage Response (DDR). Following the completion of a postdoctoral fellowship in the same domain, she transitioned her focus towards clinically-oriented research and became closely involved in (hereditary) breast and ovarian cancer research. Her research is focused on translating fundamental insights in DDR into clinical applications. A significant aspect of her current research lies in assessing the clinical significance of Variants of Uncertain Significance (VUS) detected in breast and ovarian cancer susceptibility genes BRCA1, BRCA2, PALB2 and CHEK2. She is closely involved in the development and implementation of various approaches aimed at evaluating the clinical relevance of these VUS. The application of DDR-based assays to determine the functional impact of VUS on protein function has become a central research focus.Vreeswijk holds pivotal roles within prominent consortia and committees, including vice-chair of the ENIGMA consortium and chair of the Functional Working Group. Additionally, she contributes as a Biocurator of the ClinGen BRCA1/2 Variant Curation Expert Panel and vice-chair of the Dutch/Belgian hereditary breast cancer gene variant classification Committee. In 2020, she founded the Dutch CRAFT (Cancer Risk Assessment through Functional Testing) consortium, further amplifying her impact in the field.

Invited Speakers


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