Hematologic & Lysosomal Storage Disorders Resource Library
Explore examples of research, developmental milestones, and investigational treatment approaches targeting the liver.
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Explore the Science of Gene Therapy Research
PompeUnderstand the science behind gene therapy and learn how it could help address rare genetic diseases like late-onset Pompe disease.
Hemophilia A
HemophiliaLearn how the frequency of bleeding episodes in patients with hemophilia A determines the severity of disease. See how it is diagnosed and managed.
Pompe Disease
PompeReview clinical characteristics, diagnosis and testing options, management, and more for Pompe disease.
download PDFMilestones in the History of Gene Therapy for Hemophilia
HemophiliaExplore a timeline of important gene therapy milestones related to gene therapies for hemophilia.
AAV Gene Therapy Research Animation
Gene TherapyAdeno-associated viral (AAV) vectors are designed to encapsulate genetic material for the potential treatment of genetic diseases. Explore the science behind AAV gene therapy research.
What Causes Genetic Disease?
Gene TherapyProteins carry out a variety of cellular and physiological functions in the body. See how changes in a person’s DNA can affect proteins and lead to genetic disease.
Gene Therapy Strategies
Gene TherapyLearn how genetic therapy approaches can potentially correct genetic mutations to provide functional protein.
Biological Features of a Recombinant AAV
Gene TherapyAAVs are commonly used as vectors in gene therapy. See how recombinant AAV vectors are designed and how they function in the body.
Liver-Directed AAV Delivery
Gene TherapyWatch how recombinant AAV vectors enter the liver, locate specific surface receptors, and combine with target cells.
Delivery into Target Cells
Gene TherapyDNA is delivered to the nucleus of the target cell to allow for gene expression of the relevant protein. Watch the process in action.
Gene Therapy and the Immune Response
Gene TherapyAdministering AAV vectors can activate different branches of the immune system. Learn about this process and research to develop immunosuppressive techniques.
Supplemental Resources
Explore additional hematologic and lysosomal storage disorder resources to supplement conversations with your patients.
Annual Hematology and Lysosomal Storage Disorders Events
At Spark Therapeutics, we’re striving to address unmet needs in rare genetic diseases. Here are some events relevant to our research.
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