The Science Behind SDS
SDS Science Spotlight Series
10-minute videos on key concepts in SDS and research
SDS Science Spotlight: The Genetics of Shwachan-Diamond Syndrome (SDS)
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This spotlight video on the genetics of SDS summarizes all the basics you need to know about the genetics and inheritance of Shwachman-Diamond Syndrome, in an easy-to-understand format.
SDS Science Spotlight: Clones and Clonal Hematopoiesis in Shwachan-Diamond Syndrome (SDS).
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This spotlight video on clones in SDS introduces the concept of clonal hematopoiesis, as relevant to Shwachman-Diamond Syndrome, in an easy-to-understand format.
SDS Science Spotlight: What are Ribosomes and what is their Role in Shwachan-Diamond Syndrome (SDS)?
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This spotlight video on Ribosomes and SDS explains what Ribosomes are and how they relate to Shwachman-Diamond Syndrome, in an easy-to-understand format.
SDS Science Spotlight: What are Humanized Mouse Models and why are they important for Shwachan-Diamond Syndrome (SDS) therapy development?
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This spotlight video on Humanized Mouse Models for SDS explains what mouse models are, what new models are needed, and insights into the SDS Alliance and The Jackson Laboratory collaboration to move Shwachman-Diamond Syndrome therapy development.
Ask an Expert - Community Chat
Online Monthy Webinar Series
Posted recordings
Ask an Expert: Dr. Valentino Bezzerri on Ataluren and Progress in Shwachan-Diamond Syndrome (SDS)
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This video on Ataluren and SDS explains how this nonsense suppressor drug works and the status of research as it relates to Shwachman-Diamond Syndrome.
Ask an Expert: Dr. Lisa McReynolds on Clones, Germline and Somatic Mutations, and why they matter for Shwachan-Diamond Syndrome (SDS)
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This video on Clones and Somatic Mutations in SDS explains the concept of clonal hematopoiesis and why it is so important in Shwachman-Diamond Syndrome.
Ask an Expert: Dr. Jean Donadieu on the New French National Protocol for Shwachan-Diamond Syndrome (SDS)
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This video on the new French national protocol for SDS explains what it is, how it came to be, and its benefits to the care of Shwachman-Diamond Syndrome patients.
From around the web:
Science & Medicine for Kids and Adults
Insightful resources about the basics, relevant to SDS and research
Also check out our Kids' Corner for additional resources for children!
Genes and Inheritance
Genetic Testing (Applications and Techniques)
Cell and Gene Therapy and CRISPR
The American Society of Gene & Cell Therapy has some fantastic resources to help patients understand what cell and gene therapy is. Check out their recourses (videos, graphics, etc) on the Gene Therapy 101 page.
