Aswan Heart Centre - Egyptian Healthy Volunteers

Study Overview
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Brief Summary
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To define the genotype of a healthy Egyptian cohort as a crucial step in determining the possible clinical implications of mutations detected in patients recruited in the registry.

Detailed Description
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A key objective of the existing Cardiomyopathies project is to develop and validate assays to identify the genetic and molecular determinants of inherited cardiomyopathies in the Egyptian population. Current sequencing technology has made cost- and time-effective whole exome and whole genome sequencing feasible. In their attempt to make clinically-relevant conclusions, genetecists, clinicians and bioinformaticians are increasingly faced by thousands of polymorphisms and variants, the clinical significance of which requires careful and systematic analysis of a number of factors including location of the mutation within the genome, type of mutation, gene affected and the protein for which it codes, functional importance of the coded protein, segregation within the family as well as frequency of the detected variation in the same population. The latter step requires defining what constitutes the genetic norm (including normal variants) within the reference population. Data for different populations is already available in a number of databases that are accessible to the scientific community to help maximize the public benefit from research. Examples include the Exome Aggregation Consortium (ExAC) - which aggregates exome sequencing data from 60,706 unrelated individuals - and the 1000 Genomes Project which aggregates whole genome sequencing data from 2500 individuals. However, to be able to confirm novel gene variants in the Egyptian population, data has to be compared to genomes of healthy individuals in the same population.

Official Title
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Aswan Heart Centre - Egyptian Healthy Volunteers

Conditions
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Genetic Predisposition to Disease

Intervention / Treatment
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* Other: Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Any adult Egyptian citizen subject that considers him/herself free of cardiovascular disease. Exclusion Criteria: Individuals under 18 years of age Known cardiovascular disease Known collagen vascular disease Individuals with communication difficulties, or who do not wish to participate Pregnancy Contraindication to MRI Family history of sudden death Family history of a familial cardiomyopathy Family history of premature coronary artery disease (males <40 years, females <50 years). Withdrawal Criteria: Withdrawal of consent.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Control<br>Healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families. | Other: Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.<br>* Egyptian patients and their family members diagnosed with different types hereditary cardiomyopathies.Healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families.<br>|
| Cases<br>Egyptian patients and their family members diagnosed with different types hereditary cardiomyopathies. | Other: Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.<br>* Egyptian patients and their family members diagnosed with different types hereditary cardiomyopathies.Healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Human genetic variation in Egyptians | To perform whole exome sequencing in 1000 healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families. | 10 years |