The National Knowledge Center for Rare / Orphan Diseases provides a comprehensive solution for the study of rare / orphan diseases, for researchers from around the country from academia, hospitals, government research institutions and industry.

The center's services include:

  1. Consulting in planning the research, including which and how many samples to analyze and which technologies to use.

  2. Consultation and guidance on Next Generation Sequencing (NGS) - at the Exom or Genome level. The sequencing itself will be carried out in external laboratories and will be subsidized by the center.

  3. Hybridization DNA arrays for single nucleotide polymorphism (SNP) and copy number variation (CNV) genotyping.

  4. Bioinformatics analysis of the data, from preprocessing of the raw sequence reads to annotation and prioritization of the identified variants, including functional and systems analysis of the candidate disease genes. In addition, data from different technologies (such as DNA arrays and NGS) will be integrated, and further compared to information from public databases.

  5. Establishing and maintaining a database of variants found in Israeli human samples and processed at the Center, and using it to filter variants in new samples to be received.

  6. Variants validation using Sanger sequencing.

  7. Segregation analyzes, using restriction enzymes and / or Sanger sequencing.

  8. Consultation of follow-up studies on tissue culture and animal models, as well as a reference to cooperation with the Center's researchers.

  9. Consultation on the first steps of drug development based on objectives identified in the study, and referral to continue work with the National Institute of Biotechnology in the Negev or other organizations.

  10. Workshops and training.