Sechenov First Moscow State Medical University, Institute of Molecular Medicine, Laboratory of Molecular Genetics of Human, head Prof. D.V. Zaletaev
Project: ‘Spectrum of point mutations in frequent mental retardation syndromes’
Fragile X and Angelman syndromes are among the most prevalent inherited diseases in human. In most cases, they originate not from point gene mutations but from more complex molecular genetic events. Fragile X syndrome caused by a “dynamic mutation”, which is expansion of the trinucleotide CGG repeat in the promoter region of the FMR1 gene. Angelman syndrome caused by violation of normal imprinting of a number of genes in the imprinted region of chromosome 15. As far as these unusual but rather well studied molecular events are believed to account for the majority of disease cases, scarce remain studies of point mutations that may lead to the similar phenotypes.
Aim: to characterize spectrum of point mutations in the FMR1, UBE3A, ARX & MeCP2 genes in patients with Fragile X and Angelman syndromes and similar mental retardation phenotypes.
Methods: Next generation sequencing of all exons of FMR1, UBE3A, ARX & MeCP2 genes, validation of the identified mutations by Sanger sequencing.
Patients cohort will be provided by the Research Centre for Medical Genetics.
Education, experience and technical skills
Personal attributes and competencies
If you meet the qualities and skills, and have a necessary experience, then we offer you job in the positions of junior research fellow, research fellow, senior research fellow or leading research fellow at the Laboratory of Medical Genetics depending on your qualifications and on the following conditions:
The mandatory requirement of employment is to submit in one year of work in the form of publication of papers in peer-reviewed scientific publications indexed by the Web of Science and / or Scopus systems for at least two papers in journals in the first quartile Q1 or with impact factor not less than 2.5 indicating you as a Sechenov University’s employee as a author of the said papers.
We look forward to receiving your online application including a cover letter describing the motivation of the candidate for the position, a CV including addresses of 2-3 potential referees, copies of BSc/MSc and PhD transcripts, a summary of the applicant's PhD thesis (if already completed). Please note that we exclusively accept applications submitted through this online application portal. Applications via email or postal services will not be considered.
For further information please contact Ms. Yusifova Samira, at Yusifova_Samira_Eyvaz@Yahoo.com (no applications).
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