Early genetic analysis and counseling are pivotal in identifying and managing hereditary transthyretin-related amyloidosis, enabling timely administration of disease-modifying therapies. (IMAGE)

Shinshu University

Early genetic analysis and counseling are pivotal in identifying and managing hereditary transthyretin-related amyloidosis, enabling timely administration of disease-modifying therapies.

Caption

Many forms of amyloidosis are caused by mutations in very specific genes that cause the misfolding of certain proteins, which ultimately misfold and aggregate. Though genetic diseases are normally not curable indefinitely, effective treatments for amyloidosis exist. Thus, early detection via genetic counseling is extremely important.

Credit

"202206 genetic counseling02" by Database Center for Life Science (DBCLS)

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