Shedding light on the state of genetic counseling for hereditary transthyretin-related amyloidosis

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” / Database Center for Life Science (DBCLS) Early detection and treatment of hereditary transthyretin-related amyloidosis via genetic counseling are crucial. Yet, not all at-risk individuals seek genetic counseling, and management for presymptomatic carriers remains unclear. To tackle these knowledge gaps, Read More

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