Research

 

Introduction

 

Our research lab is part of the Genetic Institute at the Galilee Medical Center in Nahariya, and thus benefits from the direct connection to the genetic clinic. The lab's aim is to search for genes responsible for various disorders and investigate their function. Many of our studies begin with patients who seek council in our clinic and are diagnosed as suffering from genetic syndromes. The results of the research will benefit those same patients, both by possibly alleviating their condition and by providing diagnostic tools for their families and communities, thus offering a combination of basic research and clinical implementation, one that may impact the entire Galilee community. 

 

The genetic institute includes the Teva Institute for Human Genetics, an excellence center for the research of the genetic basis of neuro-genetic disordes. 

 

Current research

 

Our research lab specializes in the study of DNA repair mechanisms and their break-downs. Our DNA molecules suffer hundreds of breaks and damages every second, in each of our cells, the cause of metabolites, free radicals, UV radiation and various chemicals. To maintain the stability of the genetic information, critical for the well-being of our bodies, various enzymatic mechanisms are constantly at work to repair this damage. Hindrance of any of these mechanisms leads to severe diseases, such as Fanconi anemia, XP or Cockayne syndrome. We examine cellular pathways and the role of the involved proteins to understand the connection to the manifested aforementioned disorders, as well as to progeroid syndromes and cancer. We also develop tools and methods to scan for disease-causing mutations prevalent in the Israeli and middle-eastern patients communities.

 

 In addition, research in the lab also concentrates around discovering yet unknown genetic elements which cause severe disorders, such as:

 

  • Gray platelet syndrome

 

  • Aplasia of distal phalanges with juvenile breast hypertrophy (MDN)

 

  • Osteogenesis imperfecta

 

  • Hereditary Spastic Paraparesis

 

  • Neurodegenerative diseases

 

  • Understanding the genetic basis of pain, through focusing on the genetic basis of Vulvodynia.

 

 

Methods

 

Research in the lab uses the most up-to-date methods and technologies, such as whole genome/exome sequencing, and array CGH (comparative genomic hybridization). The Genetic Institute is composed of molecular, cytogenetic, biochemical and cellular biology diagnostic laboratories. This allows for truly multi-disciplinary study, and the research students can utilize the wide array of tools at the institute's disposal- PCR machines, an ABI PRISM 3100 genetic analyzer, an ABI PRISM 3500 genetic analyzer, a Real-Time PCR platform, Nanochip 400 automatic analyzer, Typhoon phosphor-imager, a LAS-4000 ImageQuant imaging system, light/florescence inverted microscopes and more. The large amount of genetic data gained is analyzed using bioinformatics tool-set, and the mutations suspected as disease-causing are verified by molecular, biochemical and cellular methods.