Tel Aviv, Israel | May 23-25, 2022
Princeton University, NJ, USA
Stanford School of Medicine, CA, USA
Tel Aviv University, Israel
Maastricht University & Radboud University Medical Centers, The Netherlands
The Hebrew University of Jerusalem, Israel
UC San Diego School of Medicine, CA, USA
Ben-Gurion University of the Negev, Israel
Weizmann Institute of Science, Israel
Hebrew University of Jerusalem, Israel
Bar Ilan University, Israel
Northwestern University, IL, USA
Salk Institute, CA, USA
Max Delbrueck Centre for Molecular Medicine, Berlin, DE
University of Pennsylvania, PA, USA
Children’s Hospital of Philadelphia, PA, USA
Mines ParisTech, France
Ami S. Bhatt is an Assistant Professor of Medicine & Genetics, divisions of Hematology and BMT at Stanford University.
She received her MD and Ph.D. (Biochemistry & Molecular Biology) at UCSF, where she received the Fineberg Award for Excellence in Teaching and was inducted into Alpha Omega Alpha.
She completed residency and chief residency in Internal Medicine at Brigham & Women’s Hospital and was a fellow in Hematology/Oncology at the Dana-Farber Cancer Institute. Thereafter, she carried out her post-doctoral studies at the Broad Institute of Harvard and MIT.
Ami’s lab seeks to improve outcomes in patients with hematological malignancies by exhaustively characterizing the dynamics of the microbiome in immunocompromised individuals, and exploring how changes in the microbiome are associated with idiopathic diseases in this population. She loves working with trainees and is excited about the application of new molecular and computational technologies to solve complicated metagenomic puzzles. Learning how to organize piles of shotgun metagenomic sequencing data into orderly lists of genomes and genes of potential clinical/biological importance is her passion.
In addition to her academic efforts, Ami is committed to improving cancer care, education and research in resource-limited settings. She is the Director of Global Oncology for the Center for Innovation in Global Health at Stanford University and has served as a visiting lecturer at the Tokyo Medical and Dental University, Trinity College in Dublin, Ireland and the University of Botswana. She, along with Franklin Huang, is a co-founder and co-president of the non-profit organization Global Oncology (www.globaonc.org).
Prof. Han Brunner, Academic Researcher for Genetics and Heredity, pursues the scientific understanding of the connections between clinical and molecular features of rare diseases, including applications to patient care.
He has pioneered the discovery of a large number of disease genes and the application of cutting-edge genomic technologies (genomic microarrays, exome sequencing, and whole genome sequencing) to discover the causes of genetic diseases. Much of this work focuses on neurodevelopmental conditions such as intellectual disability and abnormal behavior.
Han Brunner studied medicine at the University of Groningen 1975-1984. He trained as a clinical geneticist at Nijmegen University and was board certified in Clinical Genetics in 1988. In 1998 he was appointed full professor and head of department at the Radboud University Medical Center. As of January 2014 he has a joint appointment in Nijmegen at the department of Human Genetics in Nijmegen and in Maastricht at the department of Clinical Genetics.
Synopsis of Dr. Cleveland's contribution to Science:YNOPSIS OF D.W. CLEVELAND’S CONTRIBUTIONS TO SCIENCE
Cleveland has made ground-breaking contributions in the regulation of assembly of mitotic spindles and chromosome movement. He discovered the microtubule associated protein tau (mutation in which causes human cognitive disease), the tubulin gene families encoding the major subunits of microtubules, and the first mammalian example of control of gene expression through regulated RNA instability. He identified components required for microtubule nucleation and anchoring during spindle assembly. He discovered CENP-E, the centromere-associated, microtubule-motor that he showed to be a microtubule “tip tracker” essential for powering congression of initially misaligned chromosomes, chromosome attachment at centromeres, and maintenance of chromosome congression. Using all purified components, he identified that unattached centromeres/kinetochores initiate a two step catalytic cascade signaling mechanism that represents the mitotic checkpoint, the cell cycle control mechanism that prevents errors of chromosome segregation in mitosis. He identified that the meiotic counterpart of the mitotic checkpoint is silenced without development of interkinetochore tension, thereby uncovering a mechanistic basis for the high error frequency of female meiosis in mammals.
The centromere is the basic determinant of chromosome inheritance. Unlike genes carried on those chromosomes, however, centromere position is defined by an epigenetic mark, not by DNA sequence. Cleveland identified the basis for epigenetic inheritance of centromere identity. He demonstrated it to be chromatin assembled with the histone H3 variant CENP-A, which he showed to be able to template its own replication through action HJURP, the histone chaperone/chromatin loader he and his team discovered.
In neurons cell biology, other major contributions emerged from Cleveland’s demonstration that extreme asymmetry of neurons is achieved with a deformable array of interlinked neurofilaments, microtubules and actin. He showed that disorganization of neurofilaments causes selective failure of motor neurons in mice and humans. He then demonstrated that similar disease could also arise by a toxicity of mutant superoxide dismutase unrelated to its normal activity, thereby uncovering the mechanism underlying a major genetic form of Amyotrophic Lateral Sclerosis (ALS). He also showed that motor neuron death in inherited ALS is non-cell autonomous, requiring mutant damage to both motor neurons and the neighboring supporting cells. This discovery has wide implications for other major neurodegenerative diseases, since the inherited forms of each are also caused by widely expressed mutant genes. Cleveland’s findings demonstrated the attractiveness of stem cell replacement of non-neuronal cells as a viable therapy in ALS.
Synopsis of Dr. Cleveland's contribution to Medicine:
Cleveland has made field leading discoveries into the causes and treatment of ALS and Huntington’s diseases, with implications for a set of additional neurodegenerative/ neuromuscular diseases that include spinal muscular atrophy, myotonic dystrophy and Alzheimer’s and chronic traumatic brain injury. His efforts identified key steps that trigger disease and that accelerate ALS disease progression from mutation in superoxide dismutase. These findings have redirected efforts at stem cell and gene silencing therapies in ALS. Cleveland also identified tau, the microtubule associated protein which misaccumulates in intraneuronal tangles in essentially all instances of Alzheimer’s disease and whose misfolding mediates a slow cell-to-cell spread that is causative of the chronic traumatic encephalopathy associated with repeated brain injury now recognized to be prominent in athletics.
Cleveland developed a pair of gene silencing therapies widely applicable in human neurodegenerative disease. His initial approach established utility of “designer DNA drugs” (short single stranded DNAs) that mediate catalytic, RNase H-dependent degradation of the RNA encoded by any selected gene. He demonstrated that single dose infusion of such designer DNA drugs produces durable efficacy (lasting more than three months) throughout the entirety of the rodent and non-human nervous systems. An initial application was for an inherited form of ALS and which entered clinical trial in 2010. In 2013, an extension of this approach entered clinical trial for myotonic dystrophy. Additional trials initiated for Huntington’s disease in 2015 and ALS in 2016, and one is anticipated to initiate early in 2017 for the most frequent cause of ALS and Frontal Temporal Degeneration (FTD), hexanucleotide expansion in the C9orf72 gene.
Extensions for development of clinical trials for silencing genes central to Alzheimer’s and Parkinson’s diseases, chronic brain injury, and a set of ataxias are ongoing. An additional application is in trial with a designer DNA drug chemically modified so that it is not recognized by RNase H (and therefore does not stimulate RNA degradation) but acts to correct an RNA splicing abnormality in spinal muscular atrophy, one of the most abundant genetic diseases of children.
Cleveland has pioneered additional gene silencing or gene replacement therapies for human nervous system disease using adenoassociated virus (AAV). He and his colleagues have shown remarkably broad delivery within the nervous system and they are now developing this for human clinical trial expected to initiate in 2017 using AAV encoding a short hairpin RNA which acts with the RNA-induced silencing complex (RISC) to trigger degradation of the RNA encoded by a mutated superoxide dismutase gene causative of inherited ALS.
Lastly, with his corporate partner Ionis Pharmaceuticals, Cleveland developed the first synthetic CRISPR RNA, demonstrating that it can direct and activate transient, DNA site sequence-specific Cas9 nuclease activity which will cleave and inactivate a target gene. This approach is now in development for therapy combining AAV gene delivery and synthetic CRISPR infusion for gene silencing or correction.
Aneuploidy - acquisition of a chromosome content other than a multiple of the haploid number – has long been known to be a frequent component of tumorigenesis. By generating mice that develop aneuploidy at high rates, Cleveland tested the 100 year old hypothesis that aneuploidy drives tumorigenesis. He demonstrated that aneuploidy drives tumorigenesis in some genetic contexts, but suppresses it when combined with tumorigenic mechanisms that independently generate high levels of aneuploidy. Cleveland also discovered the centromere motor CENP-E. His demonstration that inhibition of it induces chronic mitotic arrest followed by cell death for a variety of tumor cells, has enabled development of inhibitors of the CENP-E motor. GlaxoSmithKline and Cytokinetics have taken CENP-E inhibitors to clinical trial for human solid tumors.
Prof. Eran Elinav, M.D., Ph.D. is a professor at the Department of Immunology, Weizmann Institute of Science, and since 2019 the director of the Cancer-Microbiome Division at the Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany. His labs at the Weizmann Institute and DKFZ focus on deciphering the molecular basis of host-microbiome interactions and their effects on health and disease, with a goal of personalizing medicine and nutrition. Dr. Elinav completed his medical doctor’s (MD) degree at the Hebrew University of Jerusalem Hadassah Medical Center summa cum laude, followed by a clinical internship, residency in internal medicine, and a physician-scientist position at the Tel Aviv Medical Center Gastroenterology Institute. He received a PhD in immunology from the Weizmann Institute of Science, followed by a postdoctoral fellowship at Yale University School of Medicine. Dr. Elinav has published more than 150 publications in leading peer-reviewed journals, including major recent discoveries related to the effects of host genetics, innate immune function and environmental factors, such as dietary composition and timing, on the intestinal microbiome and its propensity to drive multi-factorial disease. His honors include multiple awards for academic excellence, among them the Claire and Emmanuel G. Rosenblatt Award from the American Physicians for Medicine (2011), the Alon Foundation Award (2012), the Rappaport Prize for Biomedical Research (2015), the Levinson Award for Basic Science Research (2016), and the Landau Prize (2018). Since 2016 he is a senior fellow at the Canadian Institute for Advanced Research (CIFAR), since 2017 he is an elected member of the European Molecular Biology Organization (EMBO) and an international scholar at the Howard Hughes Medical Institute (HHMI) and the Bill & Melinda Gates Foundation.
Ayelet Erez is an M.D.-Ph.D. physician-scientist who combines clinical and basic research knowledge to improve healthcare for challenging diseases such as cancer. Ayelet studied medicine at the Technion Institute in Haifa. Following her Paediatric Residency at the Sheba Medical Center, she completed a Ph.D. in Cancer Genetics at Tel Aviv University under the mentorship of Prof. Shai Izraeli. Ayelet then went to the Baylor College of Medicine in Houston, Texas, where she combined training in clinical genetics and a postdoctoral fellowship, focusing on the metabolism of human diseases in Prof. Brendan Lee’s lab. Ayelet returned to Israel in 2012 to the Weizmann Institute of Science, where she is currently an Associate Professor. In parallel, Ayelet helped establish an onco-genetic clinic at Schneider Children’s Medical Center, where she volunteers to see pediatric patients with a suspected genetic predisposition to cancer. Ayelet’s research focuses on cancer metabolism through the prism of changes in amino acid homeostasis for translational relevance. Her work has been recognized by publications in high-impact journals, invitations to major conferences in the field of cancer metabolism, and multiple prizes and awards.
Principal investigator, The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Israel.
The lab is focused on understanding how gene expression programs are regulated in specialized cells, rapidly remodeled in response to hormones and go awry during breast carcinogenesis. Combining genomic measurements of regulatory elements activity, binding of sequence-specific transcription factors and the intricate three dimensional (3D) cross-talk between distant enhancers and genes, enabled identifying key transcription factors and understanding how their combinations in 1D and 3D determine the transcriptional output.
Prof. Batsheva Kerem received her B.S.c in Biology with distinction from the Hebrew University (1979) and her Ph.D. (1986). Her postdoctoral training was undertaken at the
Hospital for Sick Children, Toronto, Canada. In 1990, she returned to the Hebrew University of Jerusalem as a senior lecturer and as an associate professor (1998). From 2003, she was appointed full professor.
At the Hebrew University, Prof. Kerem established and chaired the National Genomic Knowledge Center at the Institute of Life Sciences (1997-2014), she served as the Head of Department of Genetics (2004-2006) and as the Head of the Authority for research students (from 2007-2011). In the last 7 years, Prof. Kerem is the university’s president advisor for promotion of women in science.
Prof. Kerem received numerous prizes, including the Joels Senior Lectureship for Excellence in Science (1996), The Teva Prize for Excellence in Human Genome (1993), the Julodan Prize for Contribution to Medicine (1993). Prof. Kerem was granted the Abisch-Frenkel Prize for Excellence in Life Sciences in 2003 and lastly, she was granted the Emet Prize in 2008.
Prof. Kerem is a member of the European Molecular Biology Organization (EMBO). She serves on the editorial board of the European Journal of Human Genetics and EMBO Reports Journal and is a member of the European Research Council (ERC) for advanced scientists.
Prof. Kerem has published over 135 papers.
Dan Peer is a Professor and the Director of the Laboratory of Precision NanoMedicine at Tel Aviv University (TAU). He is also the Vice President for Research and Development at Tel Aviv University. From 2016 - 2020, he was the Chair of Tel Aviv University Cancer Biology Research Center that includes 17 affiliated hospitals and from 2017 - Present, he is the Founding and Managing Director of the SPARK program of Translational Medicine at TAU. Prof. Peer is also the Chairman of Ramot, TAU Tech Transfer Company and Chairman of TAU Ventures, the Venture arm of TAU.
Prof. Peer’s work was among the first to demonstrate systemic delivery of RNA molecules using targeted nanocarriers to the immune system and he pioneered the use of RNA interference (RNAi) in immune cells. In addition, his lab was the first to show systemic, cell specific delivery of modified mRNA to cells to induce therapeutic gene expression of desired proteins within the immune system that has enormous implications in cancer, inflammation and infection diseases (e.g. COVID 19 mRNA vaccines). In addition, his lab was the first to show high efficiency, systemic, cell specific therapeutic genome editing in cancer.
Prof. Peer has more than 130 pending and granted patents. Some of them have been licensed to several pharmaceutical companies and one is currently under registration (as a new biological drug in Inflammatory Bowel Disease). In addition, based on his work, five spin-off companies were generated aiming to bring innovative personalized medicine into clinical practice.
Prof. Peer received more than 30 awards and honors and he serves on the scientific advisory board of more than 15 companies, and on the editorial board of more than 20 journals. He is also an Associate Editor of the Journal of Controlled Release. Prof. Peer is a past President of the Israeli Chapter of the Controlled Release Society, and a Past Member of the Board of the Israel Young Academy.
Prof. Varda Shalev (MD, MPH) has completed her residency in family medicine and earned an MPA in Public Health Administration at Clark University. After a two year fellowship in medical informatics at the Johns Hopkins University Hospital, Prof. Shalev established the Department of Medical Informatics at Maccabi and was responsible for planning and developing its computerized medical systems. She has pioneered the development of multiple disease registries to support chronic disease management.
Prof. Shalev has also served as the director of primary care division in Maccabi. Altogether, she has authored or coauthored over 031 publications in peer-reviewed journals.
Dr. Viviane Slon is a senior lecturer in the Departments of Anatomy and Anthropology and Human Molecular Genetics and Biochemistry at the Sackler Faculty of Medicine, Tel Aviv University (Israel), and is affiliated with the Dan David Center for Human Evolution and Biohistory Research, where she is the head of the ancient DNA laboratory. Her PhD and post-doctoral research were conducted in the Department of Evolutionary Genetics of the Max Planck Institute for Evolutionary Anthropology (Leipzig, Germany). She has an MSc in Medical Sciences and a BSc in Medical and Life Sciences, both from Tel Aviv University. For her work on ancient DNA, Dr. Slon has been awarded the Dan David Prize Scholarship for Young Researchers (2017), the Otto Hahn Medal (2018), the Alon Fellowship (2020), and the Rosalind Franklin Young Investigator Award (2022).
Professor of Medicine (Renal-Electrolyte and Hypertension Division) and Genetics at the Perelman School of Medicine, University of Pennsylvania.
Her laboratory is interested in understanding the pathomechanisms of chronic kidney disease development. Her laboratory uses next-generation sequencing methods and a large collection of human kidney tissue samples to identify novel pathways and biomarkers.
At present, there are more than 1,400 kidney tissue samples in her Biobank. The samples are carefully annotated with functional (eGFR and albuminuria) and structural (glomerulosclerosis and tubulointerstitial fibrosis) parameters. RNAsequencing analysis has been completed for more than 600 microdissected glomerular and tubular samples. These discovery approaches are complemented with careful cell and molecular biological studies to define the role of individual genes and pathways. This analysis identified a concerted dysregulation of immune system, metabolic, and developmental genes (Niranjan et al. Nature Medicine 2008, Kang et al Nature Medicine 2015). While transcript level differences can highlight important changes in human CKD, we believe that integrating these results with genetic and epigenomic studies will be essential to identify causal pathways for CKD development.
As such, her laboratory has been part of the NIH Roadmap Epigenomics Projects to characterize the epigenome of healthy and diseased kidneys. Dr. Susztak has been the recipient of the 2011 Young Investigator Award of the American Society of Nephrology and American Heart Association, one of the most prestigious awards given to researchers under the age of 41 in the field of nephrology. Her laboratory is supported by the National Institute of Health, the American Diabetes Association, the Juvenile Diabetes Research Foundation, and private sources.
"I think this is a really exciting time in science. New technologies are emerging, which will really accelerate research progress, and I think we have fantastic new discoveries ahead of us in biology."
Prof. Katalin Susztak
Prof. Patrick Tan is the Executive Director (ED) of PRECISE and will oversee the implementation of Phase II of Singapore’s National Precision Medicine Strategy, which aims to transform healthcare in Singapore, and improve patient outcomes through new insights into the Asian genome and data-driven healthcare solutions.
During the 2020 COVID-19 pandemic, Prof Tan was Programme Director of Operation Stronghold, establishing one of Singapore’s largest COVID-19 testing facilities through a joint effort involving A*STAR (Agency for Science, Technology and Research), National University Health System, and Temasek Holdings.
Prof Tan is also Executive Director of the Genome Institute of Singapore and Professor at the Duke-NUS Medical School. He received his B.A. (summa cum laude) from Harvard University and MD PhD degree from Stanford University, where he received the Charles Yanofsky prize for Most Outstanding Graduate Thesis in Physics, Biology or Chemistry.
Other awards include the President’s Scholarship, Loke Cheng Kim Scholarship, Young Scientist Award (A*STAR), Singapore Youth Award, Chen New Investigator Award (Human Genome Organisation), President’s Science Award, and the Japanese Cancer Association International Award. In 2018, he received the American Association for Cancer Research (AACR) Team Science Award as Team Leader, representing the first time a team from Asia has received the award. He is an elected member of the American Society for Clinical Investigation (ASCI), the Bioethics Advisory Committee (BAC), a Board Member of the International Gastric Cancer Association, and on the Board of Reviewing Editors for Science
More than 35 years ago, Dr. Wallace and his colleagues founded the field of human mitochondrial genetics. The mitochondria are the cellular power plants, organelles that generate most of the cell’s energy. The mitochondria also contain their own DNA, the mitochondrial DNA (mtDNA), which encodes the wiring diagram for the cell’s power plants. Dr. Wallace showed that the mtDNA is inherited exclusively from the mother and that genetic alterations in the mtDNA can result is a wide range of metabolic and degenerative diseases as well as being important in cancer and aging.
One of his seminal contributions has been to use mtDNA variation to reconstruct the origin and ancient migrations of women. These studies revealed that humans arose in Africa approximately 200,000 years ago, that women left Africa about 65,000 years ago to colonize Eurasia, and from Siberia, they crossed the Bering land bridge to populate the Americas. Studies on the paternally-inherited Y chromosome showed that men went along too.
Co-OrganizerTel Aviv UniversityIsrael
Tel Aviv UniversityIsrael
Development: Target Systems