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Multicentric study for the phenotypic and genotypic characterization of hereditary cholestasis using genetic tests and techniques such as PCR (Polimerase chain reaction) and NGS (Next generation sequencing)
Universita degli Studi di Palermo
Pediatric Hepatology and Liver Transplantation, IRCCS-ISMETT Via Ernesto Tricomi, 5, 90127 Palermo PA, Italy
Dr. Marco Sciveres
Dr. Marco Sciveres
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
In recent years, several studies have identified genes whose mutations cause intrahepatic cholestasis. Among these the best known and studied are the ATPase Phospholipid Transporting 8B1 (ATP8B1), ATP-binding cassette, sub-family B member 11 (ABCB11) and ATP binding cassette subfamily B member 4 (ABCB4) genes responsible for Progressive Family Intrahepatic Cholestasis (PFIC) and related disorders. From the data available today it is hypothesized that in an Italian pediatric population, with mixed retrospective/prospective and consecutive enrollment, with phenotype compatible with progressive familial cholestasis there is a high prevalence of rare and known genetic conditions, different from PFIC 1, 2 and 3, and that there is a significant number not yet identified and described
What is the aim of the project?
The purpose of the reserch is to characterize the frequency, in an Italian pediatric population, of patients suffering from "minor genetic cholestasis", due to mutations in the ATP8B1, ABCB11 and ABCB4 genes, or secondary to mutations in genes recently and/or poorly/not yet investigated.
What techniques and methods are used?
During the research, the clinical characteristics (age of onset, clinical-laboratory, radiological and histological features), the response to therapy (medical and/or the possible use of hepatic transplantation) and the follow-up of patients affected by "minor genetic cholestasis “ will be described. We will focus on discovering new associations between the phenotype of "minor genetic cholestasis" and genes recently and / or poorly / not yet investigated as well as genes currently considered responsible for other clinical phenotypes, with the aim of identifying a possible genotype-phenotype correlation. Part of the work will include creating a flow-chart of diagnostic orientation of intrahepatic cholestasis based on the collected data, and genetic test (such as PCR - Polimerase chain reaction, NGS - Next generation sequencing) will be used.
What is the role of the student?
- The student will mainly observe
- The student will observe the practical experiments but will be highly involved in the analysis of the results
- If the project includes “lab work”
- the student will take active part in the practical aspect of the project
- If the project is clinical
- the student will take active part in the clinical examination
- If the project is clinical
- the student will be allowed to work with patients
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student, with the help of a tutor, will follow pediatric patients during the genetic test procedure. He/she will take part in the patient interview and physical examination, and will help in collecting samples and in organizing data. He/she will follow the steps of the genetic tests used, such as the PCR - Polymerase chain reaction and the NGS - Next generation sequencing, being able by the end of the experience to interpreter a genetic test report. The student will develop strong knowledge regarding genetic gastrointestinal diseases, and hepatic transplantation.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
We will provide some preliminary readings concerning the abstract before the research project starts. Our doctors will involve the students in every step of the project, giving them theoretical and practical knowledge.
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- No specific outcome is expected
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months)
- Colombo C; Vajro P; Degiorgio D; Coviello DA; Costantino L; Tornillo L; Motta V; Consonni D; Maggiore G; SIGENP Study Group for Genetic Cholestasis. Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):73-83.
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