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

Neuromed IRCCS

Status: Unknown

Conditions: Rare Diseases

Study type: Observational

Funder types: Other

Identifiers

NCT04152876

PON MISE n. F/050011/01/X32

Details and patient eligibility

About

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.

Full 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

Enrollment: 300 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

300 participants in 2 patient groups

Cases

Description:

Patients with rare disease

controls

Description:

Healthy parents and relatives