The role of modern genetic in prevention and diagnosis of rare diseases

Abstract

In this paper, we deal with the problems encountered by those suffering from rare diseases and their families as well as the recommendations of the Council of Europe related to the activities in this field. It gives an estimate of the current situation in our country and emphasizes the need for adoption and implementation of National Plan/Strategy for rare diseases. Given the frequent dependence existing between these diseases and genetic changes, preventive and diagnostic measures have to be based on the application of modern genetics along with upholding ethical principles.

Keywords

• rare diseases
• genetic screening
• problems
• recommendations