2024 Invited Speakers

 

Andrea Ganna, Ph.D.

Andrea is an Associate Professor at Institute for Molecular Medicine Finland (FIMM), HiLIFE and a research associate at Massachusetts General Hospital, Harvard Medical School. Andrea's research interests lie at the intersection between epidemiology, genetics, and statistics. He leads a diverse group of researchers including biologists, mathematicians, and medical doctors. He is a winner of an ERC starting grant and the Leena Peltonen Prize for Excellence in Human Genetics. He is co-leading two major international consortia: the COVID-19 host genetic initiative and the INTERVENE consortium, which aims to integrate AI and human genetics tools for disease prevention and diagnosis across biobanks in Europe. He has also initiated the FinRegistry project, one of the most comprehensive registry-based health studies in the world. His research vision is to integrate genetic data and electronic health records to enhance the early detection of common diseases and improve public health interventions.

Invited Talk:
Why Genetics of Disease Progression Matters

Understanding disease progression is of a high biological and clinical interest. Unlike disease susceptibility whose genetic basis has been abundantly studied, less is known about the genetics of disease progression and its overlap with disease susceptibility. I will show few examples of why current GWAS of disease susceptibility are not adequate to capture disease progression or longitudinal changes in clinical risk factors. First, I will show that there is limited overlap between genetic effects on disease susceptibility and disease survival. Second, I will show how BMI polygenic scores do not predict weight change among GLP-1 users. Third, I will expand this example to show, more generally, how existing polygenic scores can or cannot be used to determine outcomes of randomized controlled trials. 

 

Neil Hanchard, Ph.D.

Hanchard

Dr. Neil Hanchard received his medical degree with Honours from the University of the West Indies in Kingston, Jamaica, and his D.Phil. in Clinical Medicine from the University of Oxford, UK, where he was a Rhodes Scholar in the laboratory of Prof. Dominic Kwiatkowski. Thereafter he completed his clinical training as a pediatrician at the Mayo Clinic in Minnesota, and as a clinical geneticist at Baylor College of Medicine in Houston, Texas, where he was a tenured faculty member in the Department of Molecular and Human Genetics. In 2021, he moved to the NIH to head the Complex Childhood Disease Genomics Section (CCDGS) within the Center for Precision Health Research. The CCDGS leverages advances in genomic technologies to better understand, and ultimately better treat, genetically complex childhood diseases in populations of diverse ancestry. The CCDGS conducts bedside-to-bench discovery research through the development and recruitment of well-phenotyped cohorts and associated biosamples; application of agnostic, genome-wide, multi-omic models of genetic risk; and integration with population genetics and genetic epidemiology. Identified candidate genes and gene-pathways are then functionally validated through cellular and organismal models. The lab’s current portfolio of disorders includes severe childhood malnutrition, the alloimmune response to blood transfusion in Sickle Cell Disease, pediatric HIV infection, and childhood-onset essential hypertension. Dr. Hanchard is a tenured senior investigator in the National Human Genome Research Institute, a former Chair of the Diversity, Equity, and Inclusion Task force of the American Society for Human Genetics, co-Chair of the Genome Analysis working group of H3Africa, and a Distinguished Scholar of the NIH.

Invited Talk:
Deciphering Complex Genetic Architectures to Understand Disease Risk Variants in African Ancestry Populations

Populations of African ancestry harbor an abundance of unique and complex genomic variation, driven by a deep ancestral tree that is punctuated by intracontinental diversity in ecology, environment, culture, and migration. Given the relatively small number of African genomic studies, limitations in our knowledge of the breadth of genetic variation across the continent, and the availability of mostly small to moderately sized cohorts, understanding genetic risk in these populations requires careful consideration of divergent genetic ancestries and implementation of supporting modalities. Using examples from our studies of complex childhood disorders in cohorts recruited across continental Africa, I will illustrate both the challenges and opportunities inherent to mapping disease genes in these populations.

 

Eimear Kenny, Ph.D.

Kenny

Eimear Kenny, PhD, is the Founding Director of the Institute for Genomic Health, building resources for integrating genomic information and AI in routine clinical care, and supporting the sequencing and return of results to a diverse patients in the Mount Sinai Health System. She also the Founding Director of the Center for Translational Genomics and a Professor of Medicine and Genetics, at the Icahn School of Medicine at Mount Sinai, working on computational and translational genomic research. She is Principal Investigator in many large NIH-funded international consortium focused on computational genomics and genomic medicine, including eMERGE, PRIMED, CSER, GSP, TOPMed, PAGE, and HPRC. She is a strong advocate for the importance of diversity in genomic research, is improving the accessibility of genetics to global populations, and has led multiple genetics-based clinical trials. Her exceptional contributions to the field earned her the prestigious Early Career Award from the American Society of Human Genetics in 2022. In addition to her academic and research roles, Dr. Kenny serves as a scientific advisor to various genomic medicine initiatives in government, non-profit, and industry sectors. Kenny received her bachelor’s degree from Trinity College Dublin in Biochemistry. She completed her doctoral studies in Computational Genomics at Rockefeller University and received her postdoctoral training in Population Genetics at Stanford University.

 

Invited Talk:

Population Genetics in an Era of Genomic Health

The overarching goal of my work is to advance genomics in medicine and research through diversity and innovation. The work of my group seeks to enrich our understanding of human genomic diversity by focusing on populations underrepresented in genomics, developing and disseminating computational genomic tools to enhance precision and accuracy in diverse populations, unveiling genetic architectures of diseases that can track with
demographic history, and advancing diversity large-scale genomic databases. We also work to integrate new paradigms of genomic medicine into routine clinical practice, ensuring genomic insights are appropriately applied in real-world healthcare settings and lead to improved patient care and health equity. I will discuss aspects of this work with emphasis on why we should promote inclusivity, innovate methodologies, and harness the potential of diverse populations in genomic health.

 

 

Hongtu Zhu, Ph.D.

HZhuHongtu Zhu is a tenured professor of biostatistics, statistics, computer science, and genetics at University of North Carolina at Chapel Hill. He was DiDi Fellow and Chief Scientist of Statistics at DiDi Chuxing between 2018 and 2020 and was Endowed Bao-Shan Jing Professorship in Diagnostic Imaging at MD Anderson Cancer Center between 2016 and 2018.  He is an internationally recognized expert in statistical learning, medical image analysis, precision medicine, biostatistics, artificial intelligence, and big data analytics. He has been an elected Fellow of American Statistical Association and Institute of Mathematical Statistics since 2011. He received an established investigator award from Cancer Prevention Research Institute of Texas in 2016 and received the INFORMS Daniel H. Wagner Prize for Excellence in Operations Research Practice in 2019. He has published more than 330+ papers in top journals including Nature, Science, Cell, Nature Genetics, PNAS, AOS, JASA, and JRSSB, as well as 53+ conference papers in top conferences including NeurIPS, AAAI, KDD, ICDM, ICML, MICCAI, and IPMI.   He is the elected editor in chief of Journal of American Statistical Association, Application and Case Study and the coordinating editor of JASA.

Invited Talk:
Genetic Architecture of Human Organs through Imaging Genetics: Challenges and Opportunities

I will delve into the complex genetic architecture of human organs, with a specific emphasis on imaging genetics. Imaging genetics integrates genetic data with medical imaging to understand how genetic variations influence the structure and function of organs. Advancements in genomic technologies, imaging techniques, and computational methods present significant opportunities. Imaging genetics can enhance our understanding of organ development, function, and disease mechanisms, leading to better diagnostics, personalized treatments, and novel therapeutic strategies. By overcoming these challenges, researchers can leverage imaging genetics to make substantial contributions to precision medicine and improve health outcomes.