Rare Diseases

Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes

A Multi-Dimensional Model of cAre and transItion for Patients With cOmplex RAre Diseases

Longitudinal Studies of Patient With FPDMM

Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia

Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability

Using Social Robots in Children With Rare Diseases and Their Parents: A Feasibility Study

BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe

A Longitudinal Study on Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases

Epidemiological Study of Treatment Approaches on AQP4-IgG Positive NMOSD in Russia

Rheopheresis as Adjuvant Treatment of Calciphylaxis

Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.

Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic Purposes

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

Institutional Registry of Rare Diseases

Umbrella Study for Single Patient Treatments in Oncology

Rare and Undiagnosed Disease Research Biorepository

Identification of Cellular Biomarkers of Rare Eye Diseases in Adults

Swiss Rare Disease Registry (SRDR)

Evaluation of the French Version of the PEERS Social Skills Training Program for Adolescents With Rare Neurodevelopmental Disorders