Molecular basis of Body Integrity Identity Disorder

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About Molecular basis of Body Integrity Identity Disorder


Description

Title:

Molecular basis of Body Integrity Identity Disorder  

Time:

6 months, date of starting in consultation with the student  

Place:

departments of bioinformatics, pediatrics and psychiatry in the AMC, Amsterdam  

Supervision:

Prof. dr. R.C.M. Hennekam, pediatrician - clinical geneticist; Prof. dr. E. Derks, Professor of Genetics & Psychiatry; A. Jongejan, bioinformaticien; R.M. Blom MD, PhD-student  

Background:

Body integrity identity disorder (BIID) is a condition in which there is a perceived mismatch between the mental and physical body-image. BIID results in a strong desire to amputation or paralysation. As the disorder onset in early youth, we hypothesized that their might be a genetical background for this condition. Therefore we collected DNA of 22 BIID subjects and performed exome analyses (next generation sequencing) in 7 of them.  

Project description:

Next generation sequencing is a novel technique to analyse variations in the coding part of the genome (exome). We hypothesize that several genes are involved by the development of BIID. The assignments of the student will be to analyse the variants we found in the 7 BIID subjects, in order to discover genes involved in BIID. This could be done by several techniques; including pathway analyses.  

Student:

We are looking for a master student of bioinformatics, who is innovative and able to work independently. The internship has the opportunity to work with the latest genetic techniques and to develop novel methods in analyzing the genetic background of a rare medical disorder. When the students’ assignments will be of high quality, the student might be included as a co-author.  

Contact:

Rianne Blom <r.m.blom@amc.uva.nl>