Prof. Ruti Parvari Profile

Prof. Ruti Parvari

Professor
Ph.D, 1989

Department :	Shraga Segal Department of Microbiology, Immunology and Genetics
Room :	202 בניין המכון הלאומי לביוטכנולוגיה בנגב, ע"ש אדגר דה-פיצ'וטו - 41
Phone :	972-8-6479975 972-74-7728883 972-8-6479967
Email :	ruthi@bgu.ac.il
Office Hours :

genetics, pain

Education

B.Sc. in Biology with distinction-1975-1979, Israeli Institue of Technology. Haifa, Israel. M.Sc. in Neurobiology with distinction, 1980-1982, The Weizmann Institute of Science, Rehovot, Israel, Department of Neurobiology. Advisors: Prof. Israel Silman and Dr. Hermona Soreq. Title of thesis: Biosynthesis of acetylcholinesterase in developing cholinergic systems. Ph.D. with distinction in Molecular Biology and Immunology, 1983-1989, The Weizmann Insitute of Science, Rehovot, Israel. Department of Chemical Immunology. Advisor: Prof. Israel Schechter. Title of thesis: Evolution of the immunoglobulin genes, studies in chicken. Post Doctoral fellow, 1989-1992, in The Johns Hopkins School of Medicine, Department of Molecular Biology and Genetics, Laboratory of Dr. Daniel Nathans. Baltimore, MD USA.

Research Interests

Genes causing human developmental impairments. -Positional cloning of the gene causing the thoracoabdominal syndrome. -Positional cloning of the gene causing Dilated Cardiomyopathy. -Positional cloning of the gene causing a common form of steroid responsive nephritic syndrome. -Studying the mechanism of action of chaperone epsilon of tubulin, the gene that when mutated causes the hypoparathyroidism with growth and mental retardation and dysmorphism syndrome. -Studying the genes encoded in chromosome 2p16, a region homozygously deleted in patients presenting with cystinuria, dysmorphism and severe growth and mental retardation. -Characterization of the genetic defect in the congenital insensitivity to pain with anhydrosis (Hereditary sensory and autonomic neuropathy type IV). -Genetics of autoimmune thyroid diseases

Research Topics

Identification and study of the mutations causing human genetics diseases and syndromes. Diseases of cilia, insensitivity to pain, cardiac syndromes, endocrinological, kidney, liver, intestine, fertility.

Major expertise and techniques in the lab

Publications and funding summary / representative publications and grants

1. Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R . Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet . 2010; 86(2):273-8. 2. Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R (2010) Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. Hum Mutat . 2010 31(9):E1670-86. 3. Levitas A, Muhammad E, Harel G, Saada A, Chalifa-Caspi V, Manor E, Beck JC, Sheffield V, Parvari R . Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet . 2010 18(10):1160-5 4. Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R. Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1. Am J Hum Genet . 2011 88(5):599-607. Funding : ISF, BSF, MOHS.

Existing collaborations

1. Yoram Etzion "Identification of new genes leading to cardiomyopathies" 2. Eitan Lunenfeld and Mahmud Huleihal– "male fertility and in vitro culture of testicular stem cells." 3. Michal Hershfunkell and Baruch Yerushalmi – " Digestive system disorders- from the gene to the system". 4. Micha Aviram and Soliman Alkrinawi-" Identification and characterization of the mutations causing recessive Primary Ciliary Dyskinesia in the population of the Bedouins of the Negev" 5. Zamir Shorer and Jacov Levy-" The molecular bases of neurological diseases, specifically insensitivity to pain" 6. Eli Hershkovitz -" The molecular bases of endocrinological diseases"

Suggested multi-disciplinary research project / research focus topics

Genes involved in: 1. cardiovascular system 2. Male infertility. 3. Digestive system disorders. 4. Pain sensitivity.