E-Learning for Rare Diseases: An Example Using Fabry Disease.

ABSTRACT:

Background

Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis of a rare disease using Fabry disease as an example.

Methods

An exonic sequence derived from a hypothetical male patient was matched against human reference data using a genome browser. The missense mutation was identified by running BlastX, and information on the affected protein was retrieved from the database UniProt. The pathogenic nature of the mutation was assessed with PolyPhen-2. Disease-specific databases were used to assess whether the missense mutation led to a severe phe

SUBMITTER: Cimmaruta C 

PROVIDER: S-EPMC5666731 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature