5 Israeli Startups Seeking Cures For Rare Genetic Diseases – 2 Of Which Stem From Hebrew U!

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Therapies are available for only about 350 of the 7,000 known rare genetic diseases (also called “orphan” genetic diseases) affecting tens to hundreds of thousands of people worldwide in total.

SpliSense, established in 2016 and currently focused on splicing mutations in the CFTR gene for treating cystic fibrosis (CF). The technology is based on the discovery platform invented by Prof. Batsheva Kerem of the Hebrew University of Jerusalem, who identified and cloned the CFTR gene.

SpliSense has developed a compound with the potential to cure the lung disease in CF patients carrying a specific splicing mutation. This technology is relevant to additional targets in CF and other genetic diseases. The company also is developing a targeted modulation approach to correct the splicing pattern of CFTR transcripts according to the specific mutation carried.

Location and characteristics of the CFTR gene.
Location and characteristics of the CFTR gene.


NewStem, the first company to develop products based on human haploid pluripotent stem cells, a paradigm-changing technology based on the work of Prof. Nissim Benvenisty, director of the Azrieli Center for Stem Cells and Genetic Research at the Hebrew University of Jerusalem.
Benvenisty’s team has generated more than a dozen models for rare genetic disorders using human pluripotent stem cells and is now developing such models in haploid stem cells focusing on Fragile X Syndrome and Prader Willi Syndrome. NewStem is pursuing collaborations with biopharmaceutical companies regarding these and other genetic diseases.


Haploid cell on the left (with 23 chromosomes); diploid cell on the right (with 46 chromosomes). Illustration courtesy of Yissum Research Development Company of Hebrew University.
Haploid cell on the left (with 23 chromosomes); diploid cell on the right (with 46 chromosomes). Illustration courtesy of Yissum Research Development Company of Hebrew University.


ART BioScience, a Rehovot-based company using novel messenger RNA (mRNA) technologies to develop new therapeutics that could change the course of DMD.

ART Bioscience’s prospective drug candidates for DMD are being tested in animal models without charge by Science in Action, an Israeli preclinical contract research organization in Ness Ziona. Initial results show promising safety and efficacy.

Eloxx Pharmaceuticals, a clinical-stage company developing novel RNA-modulating drug candidates to treat premature stop codon (“nonsense mutation”) diseases, using technology invented by Prof. Timor Baasov from the Technion-Israel Institute of Technology in Haifa.

Premature stop codons hinder the production of proteins and play a role in some 1,800 rare and ultra-rare diseases. Eloxx, which recently raised $50 million in an IPO on NASDAQ, aims to restore production of full-length functional proteins with its lead drug candidate, ELX-02, focusing for now on cystic fibrosis and cystinosis. The company is headquartered in Massachusetts with R&D in Rehovot.

Minovia Therapeutics, developing personalized cell off-the-shelf therapeutic productsfor orphan mitochondrial diseases, using a proprietary method of isolating mitochondria – which produces most of the chemical energy needed to maintain normal cellular function – from placentas or from white blood cells and freezing it.

Mitochondrial diseases, a group of rare diseases caused by mutations or deletions in the mitochondrial DNA, currently can’t be treated. Minovia is conducting proof-of-concept trials in a disease called Pearson Syndrome, affecting only about 100 patients worldwide. Human clinical trials are expected to begin in late 2018.

Minovia’s next targets include Kearns-Sayre Syndrome, mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes and Leber hereditary optic neuropathy.

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5 Israeli startups seeking cures for rare genetic diseases

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