Rare Diseases
Conditions
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
Interventions
None listed
Sponsors
Institute of Genetics and Biophysics CNR
Neuromed IRCCS
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of genetic variants responsible for rare diseases | Two years | Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls |
Countries
Italy
Contacts
Primary ContactDiego Centonze, MD
Outcome results
None listed