An observational study in Genetic Predisposition to Disease, sponsored by Magdi Yacoub Heart Foundation. Recruiting at 1 site in Egypt. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2022-12-22.
Sponsored by Magdi Yacoub Heart Foundation · Observational
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.
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.
235 studies on the registry are indexed under Genetic Predisposition to Disease; 94 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 400 across 154 observational studies indexed under Genetic Predisposition to Disease.
Browse Genetic Predisposition to Disease studies →Magdi Yacoub Heart Foundation is the lead sponsor of 4 studies on the registry; 3 are open to participants now.
Counted across the registry records on this site, refreshed daily.
1000 adult Egyptian citizen subjects that considers themselves free of cardiovascular disease.
Individuals under 18 years of age
Withdrawal Criteria:
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.
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.
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.
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.
Time frame: 10 years
Plan to share: Undecided
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Magdi Yacoub Heart Foundation