Shai Carmi

2023 Israel Award Winner — Faculty

Current Position:
Associate Professor

Institution:
The Hebrew University of Jerusalem

Discipline:
Genetics & Genomics

Recognized for: Fundamental contributions to the fields of population and medical genetics. In medical genetics, he reported the first evaluations of a new technology for genetic testing of preimplantation embryos for complex (adult) diseases and traits. Through his groundbreaking work in population genetics, he has rewritten the demographic history of medieval Ashkenazi Jews.

Areas of Research Interest and Expertise:

Population genetics, genetic genealogy, preimplantation genetic testing, ancient DNA, Jewish genetics

Previous Positions:

BSc in Physics and Computer Science, Bar-Ilan University, Israel
MSc in Physics, Advisor: Shlomo Havlin, Bar-Ilan University, Israel
PhD in Physics, Advisor: Shlomo Havlin, Bar-Ilan University, Israel
Postdoctoral Researcher in Computational Biology, Advisor: Erez Levanon, Bar-Ilan University, Israel
Postdoctoral Researcher in Population Genetics, Advisor: Itsik Pe’er, Columbia University, USA
Assistant Professor, The Hebrew University of Jerusalem, Israel

Research Summary:

Prof. Shai Carmi uses genetic data and mathematical modeling to illustrate the past and inform the future. His research combines data analysis and algorithms to fill gaps in human history and develop and evaluate methods for genetic testing.

DNA can teach us about the history of a population. Carmi’s work has focused on developing methods that use genetic data to understand the current and past demography of isolated populations. Through the pioneering analysis of DNA sequences from present-day and 14^th-century Ashkenazi Jews, Carmi’s work discovered a previously unknown division among the medieval population and estimated how remarkably small the population has remained throughout the Middle Ages.

Several recent studies have identified genetic variants associated with disease, suggesting that DNA can serve as an indicator of future disease risk. Carmi is spearheading the application of genetic risk prediction techniques in Israel, in hopes of identifying high-risk individuals and informing efforts of personalized screening and prevention.

In reproductive medicine, Carmi and colleagues have developed affordable and accurate methods for preimplantation genetic testing based on whole-genome sequencing of IVF embryos. This technique may be able to screen embryos not only for severe childhood diseases but also for “complex”, adult diseases, such as heart attack, cancers, schizophrenia, diabetes, or Crohn’s disease. Carmi showed that screening embryos for complex diseases could result, under some circumstances, in significant risk reductions for the future children. Importantly, Carmi is also leading discussions of ethical, social, and clinical difficulties associated with the implementation of this technology.

“Probability and statistics are crucial components of genetics research, including in forensics, genealogy, reproductive medicine, and history. This Award provides strong support for statistical modeling efforts in the life sciences.”

Key Publications:

Waldman, D. Backenroth, É. Harney, S. Flohr, N. C. Neff, G. M. Buckley, H. Fridman, A. Akbari, N. Rohland, S. Mallick, I. Olalde, L. R. Cooper, A. Lomes, J. Lipson, J. Cano Nistal, J. Yu, N. Barzilai, I. Peter, G. Atzmon, H. Ostrer, T. Lencz, Y. E. Maruvka, M. Lämmerhirt, A. Beider, L. V. Rutgers, V. Renson, K. M. Prufer, S. Schiffels, H. Ringbauer, K. Sczech, S. Carmi*, and D. Reich*. Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14^th century. Cell. 2022.
Lencz*, D. Backenroth*, E. Granot- Hershkovitz, A. Green, K. Gettler, J. H. Cho, O. Weissbrod, O. Zuk, and S. Carmi. Utility of polygenic embryo screening for disease depends on the selection strategy. eLife, 2021.
Karavani*, O. Zuk*, D. Zeevi, N. Barzilai, N. C. Stefanis, A. Hatzimanolis, N. Smyrnis, D. Avramopoulos, L. Kruglyak, G. Atzmon, M. Lam, T. Lencz*, and S. Carmi*. Screening Human Embryos for Polygenic Traits Has Limited Utility. Cell, 2019.
Erlich, T. Shor, I. Pe’er, and S. Carmi. Identity inference of genomic data using long-range familial searches. Science, 2018.