Shai Carmi

2023 Israel Award Winner — Faculty

Shai Carmi

Current Position:
Associate Professor

The Hebrew University of Jerusalem

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 14th-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: 

  1. 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 14th century. Cell. 2022.
  2. 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.
  3. 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.
  4. Erlich, T. Shor, I. Pe’er, and S. Carmi. Identity inference of genomic data using long-range familial searches. Science, 2018.

*Indicates equal contribution.

Other Honors: 

2022 Faculty of Medicine Excellence in Teaching Award, The Hebrew University of Jerusalem

2020 Presidential Ben-Porath Award, The Hebrew University of Jerusalem

2019 Faculty of Medicine Young Researcher Award, The Hebrew University of Jerusalem

2016 40 Most Promising Under 40. The Marker Magazine

2011 Human Frontier Science Program Cross Disciplinary Fellowship

2009 Wolf Foundation Award for PhD students

2007 Adams fellowship of The Israel Academy of Sciences and Humanities

In the Media:

Forensic genetic genealogy

10 Breakthroughs of 2018, Forensic genealogy comes of age. Science Magazine, 2018

Most White Americans’ DNA Can Be Identified Through Genealogy Databases, The New York Times, 2018

Most People of European Ancestry Can Be Identified From a Relative’s DNA, The Atlantic, 2018

Preimplantation genetic testing

Screening embryos for IQ and other complex traits is premature, study concludes, Science, 2019

Why screening DNA for ‘designer babies’ probably won’t work, Science News, 2019

Study Finds Link Between Genes and Education Level. Will This Reinforce Stereotypes?, Ha’aretz, 2020

The Pandora’s Box of Embryo Testing is Open, Bloomberg, 2022

The controversial embryo tests that promise a better baby, Nature, 2022

Designer babies? Hi-tech preimplantation genetic testing may soon come to Israel, The Times of Israel, 2022

HUJICAST podcast, 2022

Americans are ready to test embryos for future college chances, survey shows, MIT Technology Review, 2023

Selected before birth, Aeon, 2023

Ashkenazi Jewish genetics

Why do Jews have more diseases than the rest of the population?,KAN, 2021

Meeting the ancestors, Science, 2022

Ashkenazi Jews Have Become More Genetically Similar Over Time, The New York Times, 2022

Ancient DNA from the teeth of 14th-century Ashkenazi Jews in Germany already included genetic variations common in modern Jews, The Conversation, 2022

33 Jews who lived in the Middle Ages shed light on the genetic origin of the Ashkenazi, Ha’aretz, 2022

Research: “There is a genetic continuum among Ashkenazi Jews – from the Middle Ages to the present,”  ynet, 2022

“Ancient DNA opens a window on the archipelago of the Ashkenazi world,” Le Monde, 2022