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Ruti parvari.JPG
Ph.D.: Weizmann Institute of Science, Israel
Post-doctorate: Johns Hopkins University, USA
Position: Professor
Shraga Segal Department of Microbiology, Immunology & Genetics
Faculty of Health Sciences
E-mail: ruthi@bgu.ac.il

 

Identification and elucidation of the functions of genes associated with human diseases

 

 

 

   

  • Background

The research conducted in my laboratory aims to identify the mutations causing human diseases using genetic approaches. This is enabled by the simple pattern of inheritance of diseases caused by mutations in single genes in the highly consanguineous families being treated at the Soroka University Medical Center.

 

  • Current research

We use exome sequencing and microarray genotyping techniques to identify the mutated genes in various disease states. The identification of the mutation is followed by functional studies to understand the mechanism of action of the normal compared to the mutated gene. These studies are carried out in cell cultures as well as animal models.  The diseases presently being studied in the laboratory are: laterality defects (situs inversus and heterotaxia), primary ciliary dyskinesia, cardiomyopathies, male infertility, insensitivity to pain and various hormonal and metabolic disorders.

The identification of the genetic factors, their function and the pathways in which they act are expected to contribute to a better understanding of the pathogenesis of the related diseases, ultimately leading to improved diagnosis, treatment and prevention. The elucidation of the pathways leading to the diseases promises the identification of novel drug targets for the benefit of a large patient population.

 

  • Selected publications

Philip M., Arbellle J.E., Segev Y. and Parvari R. (1998). Male hypogonadism due to a mutation in the gene for the beta-subunit of the follicle stimulating hormone. New England J. Med. 24:1729-1732.

Parvari R., Hershkovitz E., Grossman N., Gorodischer R., Loeys B., Zecic, A., Mortier G., Gregory S., Sharony R., Kambouris M., Sakati N., Meyer B.F., Al Aqeel A.I., Al Humaidan A.K., Al Zanhrani F., Al Swaid A., Al Othman J., Diaz G.A., Weiner R., Khan K.T., Gordon R. and Gelb B.D.; HRD/Autosomal Recessive Kenny-Caffey SyndromeConsortium.(2002). Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.  Nature Genetics 32(3):448-452.

Levy-Litan V., Hershkovitz E., Avizov L., Leventhal N., Bercovich D., Chalifa-Caspi V., Manor E., Buriakovsky S., Hadad Y., Goding J. and Parvari R. (2010). Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am. J. Hum. Genet. 86(2):273-278.

Cox J.J., Sheynin J., Shorer Z., Reimann F., Nicholas A.K., Zubovic L., Baralle M., Wraige E., Manor E., Levy J., Woods C.G. and Parvari R. (2010). Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. Hum. Mutat. 31(9):E1670-E1686.

Mazor M., Alkrinawi S., Chalifa-Caspi V., Manor E., Sheffield V.C., Aviram M. and Parvari R. (2011). Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1. Am. J. Hum. Genet. 88(5):599-607.

Muhammad E., Reish  O., Ohno  Y.,  Scheetz T., DeLuca A., Searby C., Regev M., Benyamini L., Fellig Y., Kihara A., Sheffield V.C. and Parvari R. (2013). Congenital myopathy is caused by mutation of HACD1. Hum. Mol. Genet. 22(25):5229-5236.