Rare genetic diseases are complex, getting information on them should be simple. Everything you need to know about rare diseases and the importance of genetic testing and counseling. Von Willebrand disease and women By Caty Reid Dec 23, 2024 The Role of a Genetic Counselor in the Rare Disease...
Jan 3, 2025|Advocacy,Autoimmune / Autoinflammatory Disorders,Cancers,Cardiology,Congenital And Genetic Conditions,Diagnosis,Drug Development,Endocrine Disorders,Gastrointestinal Diseases,Heart Diseases,Hematologic Disorders,Kidney And Urinary Diseases,Lung Diseases,Lysosomal Storage Disorders,Metabolic Disorders,Musculos...
Our foundation in rare disease is lysosomal storage disorders (LSDs): a group of rare genetic conditions caused by enzyme deficiencies.3Our pipeline today encompasses not only many lysosomal storage disorders, but also several other types of rare diseases. ...
Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research i...
Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems. ...
Rare Learn is an online educational portal focusing on rare diseases to enhance the patients' diagnosis journeys.
family,andhealthcareprofessionalsattemptingtolocateinformationaboutrareoruncommondiseasesTheWebsiteincludesthreedatabasesandlinkstonews,networkingandsupportprograms,researchfunding,andpatientadvocacyMuchoftheinformationisfreeofcharge;however,withoutasubscriptiontotheRareDiseasesDatabase,anominalfeemaybechargedforcomprehensive...
The new genetic testing technologies and the increasing government initiatives for rare disease testing are further propelling the growth of the studied market. For instance, in June 2022, the US FDA revealed its program for rare neurodegenerative diseases, a five-year strategy for extending and refi...
RARE DISEASES MEET 2024 Conference Supported By All accepted abstracts will be published in respective Conference Series International Journals. Abstracts will be provided with Digital Object Identifier by Quick Links Abstracts Submission New RegistrationNew ...
Sobi is a specialised international biopharmaceutical company transforming the lives of people with rare diseases. Learn more about us here.