15th GeneMappers Conference 2021

Benjamin Neale

Benjamin Neale is an associate professor in the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital (MGH), where he directs the Genomics of Public Health Initiative. Neale’s research focuses heavily on the development and application of statistical methods for the analysis of large-scale genomics datasets. He has an extensive track record in consortium science, including service as chair of the Brainstorm Consortium, chair of the Psychiatric Genomics Consortium ADHD group and analysis chair of the Whole Genome Sequencing of Psychiatric Disorders. He has also coordinated large-scale data generation activities including the PsychChip genotyping project (>120,000 samples genotyped), the schizophrenia Exome meta-analysis consortium (>25,000 cases sequenced) the Epi25K effort (>20,000 cases sequenced). The Neale lab has developed and disseminated some of the most widely used statistical approaches in genomics including LD Score regression enabling widespread evaluation of genetic correlation across complex traits. More recently, the Neale lab is developing Hail, a cloud-native software platform for scaling up genetic analyses, which we used to generate and QC the latest version of the gnomAD callset as well as conduct GWAS on ~10,000 traits in the UK Biobank sample which we released freely and publicly.

Po-Ru Loh

Assistant Professor Po-Ru Loh leads a statistical genetics research group in the Division of Genetics of Brigham and Women's Hospital and Harvard Medical School. His lab broadly seeks to develop efficient computational tools that enable exploration of genetic effects on complex traits in biobank-scale cohorts. Originally trained as a mathematician, he received an undergraduate mathematics education at Caltech followed by a PhD in applied mathematics with Bonnie Berger at MIT. During his graduate studies, he developed an interest in human genetics as well as in algorithm design and performance engineering (initially through participation in online programming contests). He pursued both of these interests through postdoctoral training with Alkes Price at the Harvard T.H. Chan School of Public Health, during which he developed the popular BOLT-LMM and Eagle software packages for genome-wide association analysis and haplotype phasing. In recent years, he and his lab have applied these methods to identify and study the effects of mosaic chromosomal alterations and germline structural variants (including copy-number variants and variable number tandem repeats) in very large genetic data sets, particularly the UK Biobank. His work has been recognized with a Burroughs Wellcome Fund Career Award at the Scientific Interfaces, an NIH New Innovator Award, a Sloan Research Fellowship, and an American Society of Human Genetics (ASHG) Charles J. Epstein research award.

Melanie Bahlo

Professor Bahlo is the Theme Leader of the “Healthy Development and Ageing” theme at The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia, overseeing the scientific strategy for three divisions, including the Population Health and Immunity division which she co-established in 2015. 

A bioinformatician/statistical geneticist with over 20 years’ experience, Professor Bahlo’s research aims to understand the genetic basis of human diseases, with a focus on neurological and retinal disorders including epilepsy, ataxia, macular telangiectasia type 2 (MacTel) and age-related macular degeneration.

Leading a statistical genetics laboratory since 2007, Professor Bahlo’s research lab has developed novel analysis methods and software. Under her leadership research teams that have discovered new genes and genetic pathways, advancing understanding of disease as well as providing genetic diagnoses for many patients.

Mark Cowley

Associate Professor Cowley joined the Children's Cancer Institute in 2018 as the Head of the Computational Biology group, bringing his bioinformatics expertise to the Zero Childhood Cancer Program. Mark has been recently appointed Co-Head of the ACRF Child Cancer Liquid Biopsy Program. Previous to his appointment at CCI, Mark led the Translational Genomics and Cancer Genomics Programs within the Kinghorn Centre for Clinical Genomics. From 2016 to 2018, Mark also established the precision cancer genomics infrastructure underlying the Molecular Screening and Therapeutics (MoST) Program at the Garvan Institute.

Mark is well-known for his translational bioinformatics work, having led the development of clinical-grade whole genome analysis, which has now been commercialised, and developed into one of the first whole-genome-sequencing-based pathology tests in the world. By conducting genome analysis as part of the Zero Childhood Cancer clinical trial, Mark and his multi-disciplinary group are attempting to bridge the gap from vast amounts of molecular data to improved health outcomes, through making molecularly-informed treatment decisions in real-time, for children with high-risk or rare cancers.

Anne Cust

Professor Anne Cust is a cancer epidemiologist and NHMRC Career Development Fellow. She is the Deputy Director of the Daffodil Centre, a joint venture between Cancer Council NSW and the University of Sydney. She also leads the Melanoma and Skin Cancer stream in the Daffodil Centre and co-leads the ‘Prevention, Risk and Clinical Detection’ research theme at the Melanoma Institute Australia, affiliated with the University of Sydney. Key research interests include melanoma risk assessment and prediction tools, prevention of skin cancer, early detection of melanoma, and the genetic epidemiology of melanoma.

Nigel Laing 

Professor Nigel Laing AO, obtained his PhD from Edinburgh University in 1979. He had a one-year postdoc at Oslo University in 1980. He joined the University of Western Australia in 1981. From his PhD until 1987, Professor Laing was a developmental neurobiologist, studying motor neuron and muscle development. He retrained in human molecular genetics at Duke University in 1987-88 and has researched human genetic disease since then. His Group has identified genes for more than thirty diseases. Now based in the Harry Perkins Institute of Medical Research, Professor Laing has four themes in his research: disease gene discovery, development of therapies for genetic muscle disease, development of improved molecular diagnostics and population screening for severe recessive diseases.  He is one of the three co-leads of Mackenzie’s Mission, the three-year $20m Medical Research Future Fund, Australian Reproductive Carrier Screening Project. Mackenzie’s Mission aims to screen 10,000 couples from the full geographic extent of Australia for 1,300 genes, associated with 750 recessive diseases. This is to research how to deliver carrier screening free to any couple in Australia who might want to use it.

Professor Laing was made an Officer of the Order of Australia in 2015. He is a Fellow of the Australian Academy of Health and Medical Sciences (FAHMS), the Faculty of Science of the Royal College of Pathologists of Australasia (FFSc(RCPA)) and the Human Genetics Society of Australasia (FHGSA). He has been an NH&MRC Fellow since 1997, an NH&MRC Principal Research Fellow since 2006.

Ryan Lister

Professor Ryan Lister leads a research group investigating the epigenome and cell identity, at the University of Western Australia and the Harry Perkins Institute of Medical Research. After receiving his PhD in Biochemistry and Molecular Biology from the University of Western Australia in 2005, Ryan undertook postdoctoral studies at The Salk Institute for Biological Studies in California, USA, where he developed and applied new genomics techniques to map the epigenome and transcriptome. Having returned to the University of Western Australia in 2012, Ryan’s laboratory is focused upon understanding the role of the epigenome in regulating cell identity, and developing molecular tools to manipulate the epigenome and gene activity to control cell functions.

Sonia Shah

Dr. Sonia Shah’s research interests and expertise lie in using large-scale genetic and genomic data to better understand complex disease biology. She obtained her PhD from University College London, with a focus on cardiovascular disease genetics. But after a postdoc at the Queensland Brain Institute, she became interested in the link between the heart and brain. In 2018, she started her NHMRC Early Career Fellowship titled ‘Healthy heart, healthy brain’, which aims to use genomic data to better understand the high prevalence of comorbidity in cardiovascular and mental health disorders, and use genomic data to predict unknown beneficial or adverse effects of cardiovascular medication on mental health disorders, and vice versa. 

Prof. dr. Danielle Posthuma

Prof. dr. Danielle Posthuma is a statistical geneticist at the Vrije Universiteit (VU) Amsterdam and Amsterdam University Medical Center, Neuroscience Campus Amsterdam. She holds an Advanced grant from the European Research Council and leads the Dutch BRAINSCAPES consortium which aims to bridge genetics and neuroscience and which was awarded 19.6M€ Euro in 2019 by the Dutch government. Her work focuses on developing novel methods that aid in detecting genes for brain diseases, interpreting these findings in biological context and generating mechanistic hypotheses that can be tested in functional experiments. She has recently led several large scale genome-wide association studies for Alzheimer’s Disease, intelligence, insomnia and neuroticism, and is the lead author on innovative tools such as MAGMA (for gene-set analyses) and FUMA (for postGWAS annotation).