Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power

Neuromed IRCCS300 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

300

Conditions

Rare Diseases

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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: * none

Locations (1)

IRCCS Neuromed

Pozzilli, Italy

Outcomes

Primary Outcomes

Identification of genetic variants responsible for rare diseases

Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls

Time frame: Two years

Central Contacts

Diego Centonze, MD

CONTACT

+39 0865915212 centonze@uniroma2.it

Data from ClinicalTrials.gov

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