Drug screening for genetic disorders

Benvenisty Nissim, HUJI, Faculty of Science, The Alexander Silberman Institute for Life Sciences

New Platform for Developing Screening Methods for the Discovery of Small Molecules for the Treatment of Genetic Disorders



Drug Discovery, Human Stem Cells, Genetics

Development Stage


Patent Status



Orphan Diseases


  • Human pluripotent stem cells (hPSC) genetic manipulation had been developed to establish models for human genetic disorders such as fragile X syndrome, Down syndrome, and Prader-Willi syndrome (and others) as well as some genetic cancers (such as retinoblastoma) and genetic diabetes (Mody1, Mody4)
  • Overall, the group has developed 15 disease models for 13 genetic disorders (complex disorders).
  • Numerous developmental diseases cannot be studied through animal models, nor by isolating cells from patients. In such cases, hPSC can be used as a complementary model system that overcomes these impediments.
  • We propose using these models as platforms for screening small molecules to treat these genetic disorders, as well as validating their potential therapy for human developmental genetic disorders.


The models may serve for:

  • High throughput screening of small molecules for those indications
  • Rational selection of a drug based on the pathological mechanism of the disease in question.



 Our Innovation

  • Human pluripotent stem cells (hPSC) may give rise to most human body cell types, and as such they hold the promise to change the face of biomedical research and therapy
  • We demonstrated genetic manipulation of hPSC to establish models for human genetic disorders.
  • Using these models, we have unravelled the molecular basis of genetic disorders, and identified a paradigm treatment for disorders such fragile X syndrome and Lesch-Nyhan disease.

The Opportunity

  • Novel models for human developmental genetic disorders are used to unravel the molecular basis of the disorders and identified a paradigm treatment thereof.
  • A powerful high screening tool for small molecules to treat rare and genetic disorders.
  • We are currently gathering novel information on the basis of 13 genetic diseases, as well as developing new therapies to treat them.


Researcher Information:




Contact for more information:

Ariela Markel
VP, Business Development, Healthcare
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