Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Rare Diseases
- Sponsor
- Neuromed IRCCS
- Enrollment
- 300
- Locations
- 1
- Primary Endpoint
- Identification of genetic variants responsible for rare diseases
- Last Updated
- 6 years ago
Overview
Brief Summary
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.
Detailed Description
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
Investigators
Diego Centonze
Head of Neurology Unit
Neuromed IRCCS
Eligibility Criteria
Inclusion Criteria
- •Patients affected by: SLA, Incontinentia Pigmenti type II, Rett Syndrome, Paget Disease, Pompe Disease, Immunodeficiency, Centromeric instability and Facial anomalies, Cortical malformations and malignant epileptic encephalopathies
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Identification of genetic variants responsible for rare diseases
Time Frame: Two years
Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls