Rare diseases are rare, but rare diseases patients are numerous. Development of a reference platform for genetic diagnosis and clinical counseling via telemedicine for patients with Rare Diseases, in accordance with DECIT/SUS guidelines

Faculdade de Medicina, Universidade de Sao Paulo

Deadline:
31 July 2024
(application date has expired)
R$12,000 monthly and a research contingency
fund, equivalent to 10% of the annual
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Contact:
Magda Carneiro Sampaio

Activities:

- Management of clinical data and samples, as well as the creation and management of
a central database with results from previous genetic tests of coding genome analysis
(exome);

- Development of algorithms for the identification and selection of inconclusive cases;

- Training for the interpretation of methylome and whole genome data;

- Analysis of genomic data, applying bioinformatics tools or analysis platforms according to current recommendations;

- Compilation of results and discussion of data with a multidisciplinary team;

- Preparation of scientific reports;

- Preparation and submission of scientific articles to relevant journals in the field.

Requirements:

- Availability to perform activities in person from Monday to Friday from 9 AM to 6 PM;

- Minimum of 3 years of postdoctoral experience, working on scientific projects with
institutional affiliation;

- Minimum of 3 years of experience in organizing and handling large-scale research
project databases, more than 5;

- Fluent English;

- At least 4 years of experience in coordinating scientific projects;

- At least 4 years of experience in coordinating teams and people in scientific projects;

- At least 5 years of experience in various molecular biology techniques and genetic
sequencing on different platforms;

- At least 4 years of experience in genome sequencing and analysis;

- Experience and teaching skills in training and forming teams.

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Rare diseases are rare, but rare diseases patients are numerous. Development of a reference platform for genetic diagnosis and clinical counseling via telemedicine for patients with Rare Diseases, in accordance with DECIT/SUS guidelines

Faculdade de Medicina, Universidade de Sao Paulo