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A graphic of a person taking an online course on a laptop, with a plant and coffee on the table and a graduation hat floating above and a lightbulb to invite joining the Project PACER Course offered by Shwachman-Diamond Syndrome Alliance

Module 3: Ribosomes, SBDS, and How they Affects the Body in SDS

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Overview

The previous module (module 2) explained that the SBDS gene encodes a protein that helps assemble ribosomes — the molecular machines that build proteins in every cell. The current module (module 3) goes one level deeper: what exactly ribosomes do, what happens when they are in short supply, and why that shortage causes issues in different organ systems to various extents. This understanding explains why SDS looks so different from patient to patient, why some organ systems are affected more than others, and why researchers may study many different aspects of SDS or different parts of the body. It also lays the groundwork for the next module (module 4), which focuses on the bone marrow and what happens there over time — and why that increases the risk of leukemia. What you will be able to do after this module: * Describe what ribosomes do and why they are essential in every cell * Explain what ribosomal stress means and how it triggers cell death or dysfunction * Identify the organ systems most commonly affected in SDS and explain why each one is vulnerable * Understand why SDS looks so different from person to person * Connect this knowledge to research priorities in SDS — including why therapies that target ribosome assembly could help across multiple organ systems at once

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To join and take these modules, you will need to login or register as a site member. You will be prompted to do so, or you can click on the login button on the top of this page. If you are requesting a new site membership, the site admin will need to approve you manually. This may take a bit of time, depending the time of the day. 

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