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Mutational Screening and clinical spectrum of patients with suspected rare neurodegenerative disorders (NDs) and its psychosocial aspects in the western Amazon, Brazil.
Brazil (IFMSA-Brazil) - Universidade Federal de Rondonia, Porto Velho
Laboratório de Genética Humana
.Prof. MSc. Andonai Krauze de França
Prof. MSc. Andonai Krauze de França Profª. Vivian Sosi de Assis Canizares Profª. Marlene Guimarães Santos
Type of Research Project
- Basic science
What is the background of the project?
In Brazil, rare diseases such as Huntington`s disease, Alzheimer`s, Parkinson`s disease and others are subjects of the research approach because of their low prevalence, in general, published data come from international databases. With the help of molecular identification methods, we aime to support the development of laboratory diagnoses for patients with rare neurodegenerative diseases in the state of Rondônia and the Brazilian Western Amazon, contributing to the quality of life of the affected individuals and their relatives, and epidemiological characterization of these diseases. Thus, we propose genetic and psychosocial investigation in patients with rare neurodegeneratives diseases and their relatives in order to confirm the clinical diagnosis and to determine the mutation and alleles observed in the sample subjects, and the probability of penetrance of the genes analyzed.
What is the aim of the project?
To provide molecular diagnosis support to patients with rare diseases such as Huntington`s disease, Spinocerebelar Ataxias and Alzheimer`s disease, as well as to conduct a survey of the patient`s and family`s clinical history and quality of life from diagnosis focusing on emotional aspects.
What techniques and methods are used?
Genomic deoxyribonucleic acid (DNA) extraction; assembly of target genes panel and sequencing; analysis of the sequencing data in personal genomic matching; statistical analysis with Chi Square distribution and mapping the DNA; analyzes of psychosocials aspects.
What is the role of the student?
- The tasks of the student will be performed on his/her own
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student is expected to understand how certain rare neurodegenerative diseases, such as Huntington`s disease and others, affected DNA and understand how to determine the mutation of the observed alleles for accurate diagnosis. In addition to the participation in the construction of panels of target genes and sequencing in order to identify mutations and characterize them according to the affections. Finally, to understand the psychosocial aspects involved in patient care and its implications within the family.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Yes, there will be seminars and technical classes.
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a presentation
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
The student need to know the molecular biology techniques.Futhermore, she/he need to be empathy, initiative, communication skills and scientific and investigative spirit. Passed in Human genetics
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Pre-Medical students from the American-British system - Students in biomedical fields - Dental medicine students (IADS members)
- - TROTT; A. Spinocerebellar ataxias caused by expanded polyglutamine: a review. 2010
- - BECK; J. Validation of next-generation sequencing technologies in genetic diagnosis of dementia. 2014
- - WALKER; F.O. Huntington`s disease. 2007
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