Genetic Research

Dor Yeshorim spends millions of dollars to conduct extensive, sophisticated genetics research on diseases affecting ethnic groups within the Jewish community. We are a leading voice in the genetics field, playing an ongoing and vital role by initiating and leading genetic studies regarding the effects of both common and rare genetic disorders on individuals and communities.

Our vast expertise, coupled with an enormous databank, has made us a world renowned source for crucial information which we share with laboratories and scientists seeking to establish testing services and standards. This also allows us to run frequency testing on various diseases; based on the results we can evaluate the need to add diseases to the panel. We have been involved with identifying the mutations for Canavan Disease, Familial Dysautonomia, Nemaline Myopathy and, most recently, Joubert Syndrome. Our identification and development of a testing methodology has made it possible for these diseases to be tested for around the world. In recent years, Dor Yeshorim has developed specialized testing for the Sephardic community. Through intense research and testing development Dor Yeshorim now tests for an additional 16 diseases prevalent in the Sephardic community.

Unfortunately, many families are affected by rare genetic disorders each year.

Their children suffer debilitating effects of diseases for which the genetic mutation has yet to be identified; causing untold heartache and fear for the future. These families reach out to Dor Yeshorim and we become their lifeline, utilizing the many methods at our disposal such as Sanger sequencing, Next-Gen Sequencing, Whole Exome Sequencing and more, to first identify the genetic mutation that’s causing the disease. Once the mutation is identified we then research and develop a reliable testing method which allows the siblings to safely marry without fear of having a genetically affected child.

Our research efforts never rest. Dor Yeshorim is continuously investing tremendous resources to research, develop and utilize the most technologically advanced and reliable testing methodologies and equipment to insure consistent and reliable results for the thousands of individuals across the globe who count on us for healthy generations.

Research Publications

Splice Site, Frameshift and Chimeric GFAP Mutations in Alexander Disease
Daniel Flint, Rong Li, Lital S. Webster, Sakkubai Naidu, Edwin Kolodny, Alan Percy, Marjo van der Knaap, James M. Powers, John F. Mantovani, Josef Ekstein, James E. Goldman, Albee Messing, and Michael Brenner1

A founder mutation in the TCIRG1 gene causes osteoporosis in the Ashkenazi Jewish population
Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D,
Treff NR, Ekstein J, Rubin BY.

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population
Chaim Jalas a, Sylvia L. Anderson b, Tova Laufer b, Kristina Martimucci b, Alex Bulanov b, Xie Xie b, Josef Ekstein c, Berish Y. Rubin b,

Cystic Fibrosis Heterozygote Screening in Orthodox Community of Ashkenazi Jews: The Dor Yesharim Approach and Heterozygote Frequency
Dvorah Abeliovich, Adina Quint, Neomi Weinberg, Galia Verchezon, Israela Lerer, Joseph Ekstein, Elyezer Rubenstein

Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population
Ruth Kornreich, PhD, Josef Ekstein, Lisa Edelmann, PhD and Robert J. Desnick, PhD, MD1

Carrier frequency of two BBS2 mutations in the Ashkenazi population
Fedick A., Jalas C., Abeliovich D., Krakinovsky Y., Ekstein J., Ekstein A.,
Treff N. R.

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
A. Eliot Shearer, Robert W. Eppsteiner, Kevin T. Booth, Sean S. Ephraim, Jose´ Gurrola, II, Allen Simpson…

Familial Dysautonomia Is Caused by Mutations of the IKAP Gene
Sylvia L. Anderson, Rocco Coli, Ira W. Daly, Elizabeth A. Kichula, Matthew J. Rork, Sabrina A. Volpi, Josef Ekstein, and Berish Y. Rubin1

Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population
Ruth Kornreich, PhD, Josef Ekstein, Lisa Edelmann, PhD and Robert J. Desnick, PhD, MD

Mutation Frequencies for Glycogen Storage Disease Ia in the Ashkenazi Jewish Population
Josef Ekstein, Berish Y. Rubin, Sylvia L. Anderson, David A. Weinstein, Gideon Bach, Dvorah Abeliovich, Michael Webb, and Neil Risch

ABCC8 Mutation Allele Frequency in the Ashkenazi Jewish Population and Risk of Focal Hyperinsulinemichypoglycemia
Benjamin Glaser, MD, Ilana Blech, MS, Yocheved Krakinovsky, MS, Josef Ekstein,
David Gillis, MD, Kineret Mazor-Aronovitch, MD, Heddy Landau, MD, and Dvorah Abeliovich, PhD

High-Throughput Carrier Screening Using TaqMan Allelic Discrimination
Anastasia Fedick, Jing Su, Chaim Jalas, Lesley Northrop, Batsal Devkota, Josef Ekstein, Nathan R. Treff

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich,5,6 Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, and Orly Elpeleg

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family
S. L. Anderson, W. K. Chung, J. Frezzo, J. C. Papp, J. Ekstein, S. DiMauro & B. Y. Rubin

Nemaline Myopathy in the Ashkenazi Jewish Population is Caused by a Deletion in the Nebulin Gene
Sylvia L. Anderson, Josef Ekstein, Mary C. Donnelly, Erin M. Keefe, Nicole R. Toto, Lauretta A., LeVoci and Berish Y. Rubin