Rare Diseases Clinical Trial
Official title:
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
The project aims to improve the understanding of a significant group of rare diseases both
from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or
more diagnostic protocols.
The study will be conducted through the application of complementary experimental strategies,
ranging from the clinical, genetic and molecular characterization of the pathology to the
search for rare variants and the development of cellular disease models.
1. Clinical evaluation of patients and relatives
2. High throughput analysis of genetic variants in genome exomes
3. Genotype-phenotype association testing
4. Identification of genetic risk variants for rare diseases
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