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SDS & Science Snapshots (2023-10-14)

In this issue: What are germline genetic variants and how are these different from somatic variants?

Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email or message us on Facebook! This is all for you!

Understanding the Role of Genes: Somatic and Germline Variants

Our bodies are composed of trillions of cells that have many different roles – to help us grow, digest food, protect us against infections, and more. These different tasks are controlled by a set of instructions known as genes. (We even have genes whose purpose is to protect us against cancer!) Genes are made up of DNA, which you inherit from your parents, and they determine things like your eye color, height, and even your risk for certain health conditions.

Germline variants (i.e., mutations) are genetic changes that are present in the reproductive cells (egg and sperm) and can be passed on to the next generation. Shwachman-Diamond Syndrome is caused by germline variants in specific genes, most commonly the SBDS gene. These germline variants are inherited from one or both parents and are responsible for the development of SDS in affected individuals.

This is in contrast to somatic variants, which are changes in the DNA that happen in the cells of the body during a person's lifetime. These variants are like “typos” that can occur as your cells divide or can occur as a result of harmful exposures such as smoking, alcohol consumption, aging, radiation, or other environmental factors. Somatic variants can lead to various health issues or diseases, such as cancer, but they are not inherited from one's parents and do not affect future generations. Identifying potential somatic variants driving cancer growth and development could have implications for potential treatment options and estimating recurrence risk and prognosis.

We have recently created an educational video on the genetics of SDS. We cover the concept of germline versus somatic variants (around minute 5), and how they related to leukemia.

The image below compares germline variants (left panel) to the development of somatic variants (right panel).

Stay tuned for our Science Snapshot next week to see how this information relates to new research regarding somatic variants in Shwachman-Diamond Syndrome!


For more information regarding the difference between somatic and germline variants, you can visit the Cleveland Clinic’s website.

The featured image is courtesy of the NHS: Genomics Education Programme.


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