It's always challenging to work on rare disorders without having data in hand, and it takes years to arrange primary rare disease data for its analysis and diagnosis. Your insights and experiences are valuable and essential for moving forward.
Rodolfo Bolaños Barrera
Orphanet: Orphanet is a comprehensive, publicly available database of information on rare diseases and orphan drugs. It provides information on the epidemiology, diagnosis, treatment, and research of rare central nervous system disorders. The Human Phenotype Ontology (HPO): The HPO is a database of human genetic disorder phenotypes, including those that affect the central nervous system. It provides a standardized vocabulary of phenotypic abnormalities and allows for the comparison and analysis of phenotypic data. The Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Institutes of Health that provides information on rare and genetic diseases to patients, families, and healthcare providers. They have a section dedicated to rare central nervous system disorders. The European Reference Network for rare CNS disorders (ERN-RND): is an European Union-funded network that brings together expertise from across Europe to improve the diagnosis and treatment of rare central nervous system disorders. The International Rett Syndrome Foundation: This is a non-profit organization that provides information and resources for Rett Syndrome, a rare central nervous system disorder that affects females.
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