29 found

1- CeNIso – National Census of Isolated Populations

This is a national census of Brazilian populations with high frequency of mono or oligogenic genetic diseases; exposure to high risk genetic factors (i.e.: inbreeding), environmental (i.e.: mercury); or unknown in people who show any physical or mental development disorder. This census is complemented by a virtual library specialized in isolated populations and ‘clusters’ of ‘genetic’ diseases. It is the first step towards a specialized centre focused in research and rules related to medical attention to those kinds of pathologies, providing technical and methodological support services to geneticists, as well as to the affected community.

2- Mucopolysaccharidoses in Bahia and Paraiba communities

The research aims to determine the frequency of MPS and also detect new cases and/or other genetic diseases at the region besides the mutations related to it so that it is possible to identify people in risk of transmitting the disorder. Accurate diagnosis enables treatment that reduces the impacts of the disease in the community. Moreover, the program led by Inagemp offers identification of disorder carriers, genetic advice, neonatal screening and an educational program to the community.

3- Genodermatosis on the coast of Ceara

It is a program that aims to determine genodermatosis at a community with a great number of affected people in the beach zone of Ceara.

4- Family deafness in an isolated community in Para

It is a study that aims to determine the prevalence of mutations on the gene GJB2 and the mutation of lGJB6-D13S1830 in sporadic cases of nonsyndromic deafness.

5- Oral clefts in different Latin-American communities

The project is focused on defining and delineating the epidemiology, phenotypic and genotypic of oral clefts in Latin-American communities. The initial project “Oral Clefts in Patagonia” was extended to regions with high prevalence in Brazil, in an attempt to build a scale of familial recurrence in order to offer Bayesian genetic counseling, integrating molecular data with the information about sub-phenotype and ancestry in the families of the ones affected by oral cleft. Further development in this project is aimed at using the racial diversity of the inhabitants of the continent together with the genomic techniques on a large scale, as well as a clinical study.

6- Neural tube defects in Minas Gerais

It is a study about the recurrence of neural tube defects led by researchers through the genetic and clinical, and epidemiological characterization within the district of São José do Pantano, in the city of Pouso Alegre, MG. It considers the high rates of consanguinity and the cases of NTD. The study also aims to create a DNA bank for future molecular analysis.

7- High rates of twinning on the northwest of Rio Grande do Sul

The study of high rates of twins in the city of Candido Godoi (RS) aims to identify a potentially implicated genetic factor, providing pathways for further studies which can come up with innovative treatments to infertility. It also aims to update the records and family histories (genetic maps) after the research made by Matte and cols, 1996. Such research was brought with a questionnaire about genetic variables, genetic origin and environmental variables. Those genetic maps also include details of birth defects in the studied families.

8- Health risk perception of nuclear power plants in Angra dos Reis

The project intends to implement SISVIGEN - System of Family Cancer Surveillance and Congenital Malformations in area of nuclear power generation, in the city of Angra dos Reis, through a partnership with FUSAR – Angra dos Reis Health Foundation. Such work contributes to enlarge the accessibility of patients with family history of cancer and congenital malformations to SUS (Brazilian Public Health System), which gives genetic advice, diagnosis and makes treatment possible whenever it is necessary.

9- Thalidomide embryopathy in regions with high rate of leprosy

The study intends to contribute to the implementation of an epidemiological surveillance system of limb reduction defects focused primarily to identify cases of thalidomide embryopathy in Brazil. It is also committed to evaluate the existence of genetic variants that may be related to the response to treatment of erythema nodosum leprosy.

10- Genetic susceptibility to malaria and leishmaniasis in Rondonia

The Project gathers efforts to estimate the genetic variability of representative samples of the population living in the state, especially those related to the following endemic infectious diseases: leishmaniasis, leprosy, tuberculosis and malaria. Those studies are carried out by epidemiological statistical methods. The genetic variability is assessed by immunological, biochemical and molecular techniques. The identification of genetic variants related to protection against malaria, leishmaniasis and hepatitis c observed by INAGEMP researchers working in Rondonia can contribute to the development of biologic tools to prevent such diseases.

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