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C NVs (microdeletions/microduplications/indels) analysis in patients with developmental delay (DD), autism (ASD), multiple congenital abnormalities (MCA)
Czech Republic (IFMSA CZ) - Palacky University, Olomouc
Department of Medical Genetics, University Hospital Olomouc
Doc. MUDr. M. Prochazka, Ph.D
RNDr. P. Capkova, Ph.D, Mgr. Z. Capkova, RNDr. K. Adamova, Ph.D
Type of Research Project
- Basic science
What is the background of the project?
CNVs are detected in 5 - 15 % of children with DD. The various techniques are employed for the detection of these mutations - microarray, MLPA, FISH, NGS. The aim of the project is to investigate these mutations in the group of children with DD/ASD/MCA with above-mentioned methods. The critical point is to analyze the significance of the mutation for the phenotype of the patient or determination of candidate gene for relevant diseases. The various types of the databases (Decipher, DGV, SFARI Gene, OMIM...) are implemented for the study of the significance (pathogenicity) of the mutations. What techniques and methods will be used? Cytogenetic - karyotyping, FISH, MLPA, microarray
What is the aim of the project?
What techniques and methods are used?
What is the role of the student?
What are the tasks expected to be accomplished by the student?
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- He/she will look for so far published information of relevant CNVs or genes in the databases. Based on received information he/she should decide about pathogenicity detected mutation. He/she should suggest method verification of the detected aberration ? design of the primers for relevant gene - probe for hybridization - etc. The student's work will mainly be focused on the analysis of the data.
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Prior experience with laboratory methods used in genetics is essential, high motivation for the project is expected from the applicants.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Other Health sciences students
- Bernie Devlin and Stephen W Scherer. Genetic architecture in autism spectrum disorder. Current Opinion in Genetics & Development 2012; 22:229?237
- Daniel H. Geschwind. Genetics of autism spectrum disorders. Trends in Cognitive Sciences September 2011; Vol. 15; No. 9
- Qiao et al. Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID) BMC Medical Genetics 2014; 15:82 http://www.biomedcentral.com/1471-2350/15/82
- Anja Weise;. Microdeletion and Microduplication Syndromes Journal of Histochemistry & Cytochemistry 2012; 60(5) 346?358
- Kearney HM et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional CNV. Genetics in Medicine; 211;13(7).
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