Dr. Adam Phillippy is a Senior Investigator and head of the Genome Informatics Section at the U.S. National Human Genome Research Institute. His lab has developed foundational methods genomic analysis and pioneered the use of single-molecule sequencing for the reconstruction of complete genomes. He is a co-founder of the Telomere-to-Telomere Consortium and led the team that finished the last remaining regions of the human genome. For this work, he was named by TIME magazine as one of the world’s 100 most influential people of 2022.

Medical Genetics -SAG certified
Master in Clinical Research UNCuyo
Professor of the FCMédicas UNCuyo
MD of the University Hospital UNCuyo
Member of the Family Cancer Program PROCAFA (Ministry of Health of the Argentine Nation)
Advisor to the Argentine Human Variome Project
Vicepresident 2nd Argentine Society of Genetics
Member of CD RELAGH

Graduated in Biological Sciences at UFPA (Universidade Federal do Pará) and Computer Science at CESUPA (Centro Universitário do Pará). Master and PhD in Genetics and Molecular Biology at UFPA (Universidade Federal do Pará) under the supervision of Dr. Sandro José de Souza and currently conducting his Post Doctoral Studies at NYU (New York University) under supervision of Dr. Matthew Maurano. During his graduate studies, he developed interest in human medical and population genetics find where he developed computational approaches to explore natural genetic variants, their occurrence and implications to gene regulation. More recently, his study have focus on the mechanism behind gene expression regulation using synthetic biology approaches.

After completing my Biomedical Sciences degree in 1989 in UFPA, in Belém – capital of Pará State, I received my M.S. degree in 1993. I completed my Ph.D. at the Post-Graduate Program of Genetics from the hematology department of the University of São Paulo (USP) in Brazil in 1996. I returned to Belém where I continued my research, focusing on human and medical genetics. In 1997, I became a professor at the Federal University of Pará (UFPA) and my main research focus was human variability of Brazilian populations in the Amazon region. In the past 10 years, I have been working with next generation sequencing (NGS) for whole genome sequencing (WGS), exome, transcriptome, etc., especially of urban and traditional individuals from the Amazon region, characterizing disease susceptibility and biomarkers in human populations. The expertise developed by our group allowed us to study the genetics of diseases such as cancer and infectious diseases. I also have explored the interaction between host and pathogen genetic components, describing the interaction between environment and cellular components (DNA, RNA and proteins). My team and I have identified important biomarkers and risk factors of neglected diseases such as leprosy, malaria and tuberculosis by NGS.

Andrés Moreno-Estrada is a Mexican population geneticist interested in human genetic diversity and its implications in population history and medical genomics. He is a medical doctor by training (University of Guadalajara, 2002) and pursued a PhD in Evolutionary Genetics in Barcelona (Pompeu Fabra University, 2009), where he was trained in human population genetics working on the analysis of genetic variation in candidate genes under positive selection on the human lineage. Dr. Moreno was a postdoctoral fellow from 2009 to 2012 in Prof. Carlos Bustamante’s group at Cornell University and Stanford University School of Medicine. He later became Research Associate of the Genetics Department at Stanford University until 2014. For his work in Latin America he was awarded the “George Rosenkranz Prize for Health Care Research in Developing Countries” in 2012. His work integrates genomics, evolution and precision medicine in projects involving large collections of understudied populations, in particular from the Americas and the Pacific. He authored the most detailed work so far of the genetic structure of the Mexican population, including the first genomic characterization of 20 diverse indigenous groups throughout Mexico (Science 2014), as well as fine-scale genomic studies in the Caribbean region (PLOS Genetics 2013), South America (PLOS Genetics 2015), and Polynesia (Nature 2020, Nature 2021). Since 2015, Prof. Moreno is the Principal Investigator of the Human Evolutionary Genomics Lab at the National Laboratory of Genomics for Biodiversity (LANGEBIO) in Mexico. He is the co-founder of the Latin American Alliance for Genomic Diversity and member of the Executive Committee of the International Common Disease Alliance (ICDA).

I am a molecular biologist by training and have been active in cancer genetics and variant interpretation for more than 20 years; my research interests include hereditary cancer syndromes (especially Lynch/HNPCC syndrome, other hereditary colorectal cancer syndromes and HBOC). My position as Head of Genomics Program at MGZ includes supervision of the complete variant interpretation and variant curation process in our routine diagnostic lab as well as data sharing, data curation and knowledge transfer initiatives. I´m an active member and biocurator of the InSiGHT-(ClinGen)-VCEP for colorectal cancer genes and Lead of the HUGO Education Committee subgroup “Variant Interpretation and Genome Databases”.

I am a statistician by training with strong interactions with the medical field since 1999. Such interactions started during my Undergrad, extended throughout the Master’s and Ph.D. programs, and consolidated with two postdoctoral training opportunities I had in the UK and Brazil (“Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis”, Nature Genetics 2014; “Comprehensive molecular characterization of muscle-invasive bladder cancer”, Cell 2017).

During my professional trajectory, I worked as an intern at Affymetrix in California, with methodologies for preprocessing SNP microarrays. Later, I developed the CRLMM algorithm, a robust and accurate genotyping algorithm for Affymetrix arrays (“Exploration, normalization, and genotype calls of high-density oligonucleotide SNP array data”, Biostatistics 2006), which uses a semi-supervised statistical learning approach to obtain genotypes at millions of genomic sites simultaneously. The algorithm was later extended for Illumina chips. I am a Bioconductor developer since 2004, responsible for more than 160 packages, including the oligo and crlmm packages, which accumulate more than 10,000 downloads per year (“Orchestrating high-throughput genomic analysis with Bioconductor”, Nature Methods 2015). The oligo package (“A framework for oligonucleotide microarray preprocessing”, Bioinformatics 2010) is the to-go tool within the Bioconductor framework for Affymetrix and Nimblegen microarray preprocessing.

I develop statistical methodologies and high-performance computational tools for the analysis of high-throughput genomic data and am deeply involved with BioConductor, being one of the pioneer developers at the project and, today, member of the Community Advisory Board at Bioconductor. The research projects I am involved with focus on the understanding of the biological mechanisms involved in epilepsy and stroke, for which I use statistical learning approaches to improve the quality of health care delivery through the neurology department at our University Hospital (“A Prediction Algorithm for Drug Response in Patients With Mesial Temporal Lobe Epilepsy Based on Clinical and Genetic Information”, PLoS One 2017). I am one of the founders of the Brazilian Initiative on Precision Medicine ( “The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations”, npg Genomic Medicine 2020), where we generate data, discuss and implement the infra-structure required for the actual execution of Precision Medicine in Brazil, interacting with different stakeholders (including policy makers, patients, researchers and medical doctors) [“Distribution of local ancestry and evidence of adaptation in admixed populations”, Sci. Rep. 2019].

I am a genomics data scientist with broad expertise in the analysis of next-generation sequencing data sets, including WGS, Exome-seq, RNA-seq, ChIP-seq, ATAC-seq and PacBio long-read sequencing. I pursued interdisciplinary training in Computer Science and Biology, during which I acquired a solid skill set in computational techniques and machine learning, as well as a working knowledge of several molecular biology techniques.
During my 15 years research career, I have created original tools and methods for analysis of genomics and transcriptomics data, which were applied to study infectious diseases and cancer. My work contributed to the understanding of the molecular mechanisms underpinning tuberculosis and identified new strategies for targeted therapies in T-acute lymphoblastic leukemia.
At the Jackson Laboratory for Genomic Medicine, I lead the development of a data analysis pipeline to integrate ATAC-seq and RNA-seq that has been applied to systemic lupus erythematosus (SLE) and immune cells, in the context of several NIH grants.
As of January 2021, I initiated my laboratory at the UNICAMP School of Medicine focused on the application of single-cell technologies to study neurological disorders, including the use of ATAC-seq combined to RNA-seq to understand the concerted epigenetic and transcriptomic changes associated to neuronal development and brain diseases. In this proposal, we assembled a multi-disciplinary team to create a single-cell atlas of the human brain in early stages of life using the novel Multiome ATAC + gene expression technology from 10X Genomics, to study the cell diversity and neuronal development of the childhood and early adolescence brain.

Ivo Fokkema graduated in Molecular Biology in 2002 and started in the group of Johan den Dunnen at the Leiden University Medical Center, the Netherlands, to develop the Leiden Open Variation Database (LOVD) software. It was the world's first software that could be downloaded for free and used to set up an online database to collect and share genetic data. Today, it continues to power the world's largest network of curated gene variant databases.

Ivo currently leads the LOVD project, co-chairs the HUGO Gene/Disease Specific Database Advisory Council, and is a member of the HUGO Nomenclature Standards committee, the HUGO Forum, and the HPV/GV Reporting of Sequence Variants Working Group.

Graduated in Medicine from the University of Pernambuco; Residency in Internal Medicine at the Federal University of Pernambuco; Fellowship in Clinical and Laboratory Immunology by the National Institutes of Health, USA; PhD in Clinical Pathology from the University of São Paulo; Ph.D in Experimental Immunology from the University of Amsterdam;
Board Certified in Allergy and Immunology and Clinical Pathology.
Currently Head of Genomics and Precision Medicine Program Coordinator at Hospital Israelita Albert Einstein; Principal Investigator of the Rare Genomes Project

Dr. Juan Llerena Jr is Consultant Clinical Genetics and Director of the Medical Genetics Centre of National Institute Fernandes Figueira, Fiocruz (Rio de Janeiro, Brazil), a maternal-infantile unit of the Brazilian Ministry of Health Department, since 1989.

He trained as a General Practitioner and Internal Medicine with special interests in the fields of dysmorphology and clinical/molecular cytogenetics.

He has co-authored over 150 articles in peer-reviewed journals.

More recently, became Director of The Reference Centre for Rare Disorders in Rio de Janeiro city, through the Fiocruz Foundation.

Dr. Miga is an Assistant Professor in the Biomolecular Engineering Department at UCSC, and an Associate Director of the UCSC Genomics Institute. In 2019, she co-founded the Telomere-to-Telomere (T2T) Consortium, an open, community-based effort to generate the first complete assembly of a human genome. Dr. Miga directs the Reference Production Center for the Human Pangenome Reference Consortium (HPRC), with the goal to broaden the human reference to represent hundreds of diverse genomes from around the world and serve as the foundation for more inclusive and equitable health care in the future. Central to Dr. Miga’s research program is the emphasis on satellite DNA biology and the use of long-read and new genome technologies to construct high-quality genetics and epigenetic maps of human peri/centromeric regions.

Luca Pinello is a computational biologist and leader in developing computational methods for functional genomics, genome editing and single cell technologies. He holds a Ph.D. in Mathematics and Computer Science from University of Palermo, Italy. He is currently an Associate Pathologist at Massachusetts General Hospital (MGH) and an Associate Professor of Pathology at Harvard Medical School. He is also part of the MGH Center for Cancer Research and an Associate Member of the BROAD Institute of MIT and Harvard. He has developed several foundational computational tools in the field of genome editing for the design (CRISPRme, CRISPRitz, PrimeDesign), quantification (CRISPResso 1 and 2), and analyses of coding and non-coding tiling screens (CRISPRO, CRISPR-SURF). He was awarded one of the first NIH R35 Genomic Innovator Awards, a prestigious grant supporting highly innovative researchers working on important problems in genomics

Lucía Spangenberg is a researcher at the Bioinformatics Unit at Institut Pasteur de Montevideo and an assistant professor in the Department of Basic Research at the Clinical University Hospital in Uruguay. She works on population genomics coordinating projects regarding local populations, trying to understand Latin-American history and admixture and its impact on health. Also, she is leading projects regarding medical genomics in Uruguay. She has a Bachelor and Masters in Bioinformatics from the University of Tübingen (Germany) and a PhD in Biology (PEDECIBA Biología) from the Institut Pasteur de Montevideo in cooperation with Fiocruz Curitiba (Brazil) and a postdoc in human genomics from the Institut Pasteur de Montevideo.

Maria Susana Ciruzzi (“Suzie”) Graduated as a Music Teacher at age 14. Graduated at 21 years old as a Lawyer at the University of Buenos Aires, Awarded a JD in Criminal Law (University of Buenos Aires, Law School) at age 27. Specialization in Bioethics (Facultad Latinoamericana de Ciencias Sociales, Costa Rica). PhD in Criminal Law. University of Buenos Aires. Posdoc in Criminal Law and Bioethics, University of Buenos Aires. Master on Bioethics, Facultad Latinoamericana de Ciencias Sociales, Costa Rica. Specialist in Pediatric Palliative Care.

completed a Ph.D. in molecular medicine and I wanted to pursue a career path that combined research with disease diagnosis. I am interested in disease research, particularly the elucidation of disease susceptibility genes and setting standards for gene and variant curation. My thesis research focused on factors that differentiate metabolically healthy and unhealthy obese humans. It began with a search of microarray analyses of fat from obese patients undergoing bariatric surgery. These analyses identified the little-studied protein Hypoxia-inducible protein 2 (HIG2) as a highly fat-specific gene in human patients. My research focused on elucidating a role for HIG2 in promoting lipid deposition in liver and adipose tissue, two critical metabolic organs. I used the skills learned during my Ph.D. studies to transition to a field that directly helps patients. Thus, I joined Heidi Rehm’s research program in 2016, working as a postdoctoral fellow on the NIH-funded Clinical Genome Resource (ClinGen) program which is building authoritative resources to define the clinical relevance of genes and variants for use in precision medicine and research (Rehm et al., 2015). ClinGen is spearheading the development and implementation of evidence-based expert curation of genes and variants to meet this aim. Simultaneously, I completed a Clinical Molecular Fellowship in the Harvard Medical School Genetics Training Program and am now a board-certified clinical molecular geneticist and assistant professor at Geisinger. My clinical fellowship focused on exome and genome analysis of rare disease cases. In my role at Geisinger, I continue to collaborate with ClinGen and direct the ClinGen Biocuration Core based at the Broad Institute. This core contains staff curators who are deployed to ClinGen’s 93 gene and variant curation expert panels. Through my work directing this Core, I have trained 15 research assistants to perform gene and variant curation in a range of different disease areas. While much of my initial focus was in the hearing loss domain, I currently collaborate with 15 expert panels as a framework expert. I have coordinated and led specifications in the Congenital Myopathies Variant Curation Expert Panel (VCEP), along with Co-Investigator Dr. Amanda Lindy. I am also a Clinical Lab Director for the Geisinger MyCode-Regeneron DiscovEHR collaboration (MyCode) project and participate in standard setting for variant pipelines and variant classification for confirmation and return of results to MyCode participants. My work with ClinGen expert panels and population screening in MyCode have set me up to succeed in investigating the prevalence, penetrance, and phenotypic variability of Charcot-Marie-Tooth disease in population-based cohorts, particularly the variant interpretation and gene list creation.

Dr. Migliavacca is a SBGM Board Certified Clinical Geneticist with 10 years of experience in Human Genetics including investigation of Rare Diseases with NGS methodology. She has extensive experience in translating lab techniques into practical clinical guidelines. She led for 9 years the Genomics Medicine team at DASA helping establish the NGS lab where she led the pilot project for WGS at NICU’s in Brazilian hospitals. Dr. Migliavacca has a life purpose to shorten the diagnostic odyssey of the patient with a rare disease by facilitating the integration of genetic medicine into all areas of health care in an ethically sound, accessible, and cost-effective manner. She received her M.D from USF University, her Ph.D from UNIFESP and her MBA from PUCRS.

Ricardo Verdugo is a Veterinary Medic from the University of Chile (2001). He obtained a Ph.D. in Genetics from the University of California Davis (2007) after completing his thesis work on fine-mapping of QTLs for obesity in mice. Postdoc in Computational Biology in The Jackson Laboratories with Dr. Gary Churchill, where he applied statistical analysis of transcriptomic data from mouse crosses for the inference of gene networks underlying complex traits. A second postdoc at INSERM, where he applied Systems Genetics to human population studies of cardiovascular disease. From 2012 to 2022, he was Assistant Professor at the Human Genetics Program of the University of Chile. He is the Director of the ChileGenomico Project, charactering the genetic diversity of the Chilean population and its relevance for health. He also directs a genomics and a bioinformatics laboratory and leads U-Genoma (ugenoma.cl), a national academic network to support research and graduate level education in genetics, genomics and bioinformatics and the C19-GenoNet multi-centric COVID-19 cohort. Since July 2022, he is group leader at the School of Medicine of the University of Talca, in Talca, Chile.

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 of the Browser, identifying important datasets for inclusion into the Browser and enabling researchers worldwide through teaching the Genome Browser in videos and workshops and seminars, now more than 300 in number (https://bit.ly/kuhnTalks). He has a particular interest in the support of clinical geneticists via 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.

Researcher at National Center for Research in Energy and Materials (CNPEM)/Brazil. Master (2012) and Ph.D. (2017) in Neuroscience at University of Campinas. Postdoctoral fellow at University of California (UCSD). Research focuses on neurodevelopmental diseases, epilepsy, molecular biology, and human stem cell-derived 3D models.

Sonia Margarit, MS. Certified Genetic Counselor graduated from the Sarah Lawrence Genetic Counseling Program in 1997. She worked as a genetic counselor in the areas of prenatal obstetrics and pediatrics at Elmhurst Hospital / Mt. New York Sinai School of Medicine.

In 2004 she moved to Santiago, Chile, to join the genetics team of the Genetics and Genomics Center of the Clínica Alemana Universidad del Desarrollo, becoming the first and only genetic counselor in Chile. Since then, she has taught genetics in Medicine and Health Careers and became an associate professor at the Faculty of Medicine in 2015.

She collaborated in the development of the Breast High-Risk Center at the Clínica Alemana where she worked as a genetic counselor advising hundreds of families at high risk of hereditary cancer. She is currently, providing genetic counseling to patients and families with hereditary syndromes in adults and pediatrics department.

Recognizing the lack of training in genetic counseling she has been keen endeavor promoting the need for training health care providers in genetic counseling. She has collaborated with the development and taught the genetic counseling course in hereditary cancer at the University of Chile (Medichi) at Clínica las Condes.

In 2022, with the support of the Faculty of Medicine and Nursing of Universidad del Desarrollo she helped developed and is the Director of the first genetic counseling online certificate course in Chile.

I combine advanced computational methods with experimental validation techniques in high-resolution genetic mapping populations—an integrative approach called ‘systems genetics’—to elucidate the gene regulatory architecture governing cell fate decisions during early development and quantify the effects of environmental exposures on these processes. My research takes advantage of the powerful Diversity Outbred (DO) and Collaborative Cross (CC) mouse populations, complementary reservoirs of natural genetic perturbations that segregate high genetic diversity with a balanced population structure ideal for high-resolution genetic mapping, to characterize the effects of genetic and environmental perturbations on multiple layers of gene regulation and infer predictive network models underlying cell fate decisions and exposure health risks. This systems genetic approach has enabled me to (1) define the consequences of genetic variation on transcript and protein abundance in the adult liver, and in so doing discover that pervasive transcriptional variation is largely constrained in homeostatic adult tissues at the level of protein abundance by the relative stoichiometry of protein binding partners and complex members, and (2) predict and validate genetic variants that influence multiple layers of gene regulation and affect maintenance of ground state pluripotency in mouse embryonic stem cells. Through my training and research over the past two decades, I have purposefully acquired expertise in developmental biology, complex trait genetics, genomics and proteomics, bioinformatics, and statistics, with the goal of applying this interdisciplinary skillset to dissect and manipulate the gene regulatory networks that drive cell fate processes.

Yann Joly, Ph.D. (DCL), FCAHS, Ad.E. is the Research Director of the Centre of Genomics and Policy (CGP). He is a Full Professor at the Faculty of Medicine and Health Sciences, Department of Human Genetics at McGill University. Prof. Joly is also an associate member of the Bioethics Unit and at the Law Faculty at McGill. He was named advocatus emeritus by the Quebec Bar in 2012 and Fellow of the Canadian Academy of Health Sciences in 2017. Prof. Joly’s research interests lie at the interface of the fields of scientific knowledge, health law (biotechnology and other emerging health technologies) and bioethics. He created the first international genetic discrimination observatory (GDO https://gdo.global/en/gdo-description) in 2018. He has published his findings in over 200 peer-reviewed articles featured in top legal, ethical and scientific journals. He served as a legal advisor on multiple research ethics committees in the public and private sectors.

Prof Zilfalil Bin Alwi Professor Zilfalil Bin Alwi is the UNESCO Chair on Human Genetics of Thalassemia. He is a senior consultant Pediatrician & Clinical Geneticist at the Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia (USM), Kota Bharu, Malaysia.

He received his specialist training in Pediatrics (Master of Medicine (Pediatrics)) from the same university and later went to study at University of Glasgow, United Kingdom (UK) where he obtained a MSc in Medical Genetics and then to University of Aston, UK where he obtained a PhD in Pharmacogenetics.

Prof Zilfalil is the founder and head of the Malaysian Node of the Human Variome Project (MyHVP). He is a member of the Board of Directors of Human Variome Project (HVP) International (now known as Global Variome) and is the joint chairman for Global Globin Network (GGN) -- a global project by HVP which involve the systematic collection and sharing of variation data to combat haemoglobinopathies (Thalassemia and Sickle Cell Disease). He is also a member of the Scientific Advisory Committee and the Gene/Disease Specific Database Advisory Council of Human Genome Organisation (HUGO) and the chair of the Genetic Counselling subcommittee of the HUGO Education Committee.

He has served as the Director of USM Human Genome Center from 2005 to 2009. Prof Zilfalil is the chief editor of the Malaysian Journal of Paediatrics and Child Health (MJPCH), which is the official journal of Malaysian Paediatric Association and Malaysian Journal of Human Genetics (MJHG), which is the official journal of the Malaysian Society of Human Genetics. He is a council member of the College of Pediatrics, Academy of Medicine of Malaysia and fellow of this Academy. He is also the founding president of the Malaysian Society of Human Genetics.