What is the ALS genetics program?

With the approval of the genetic drug Tofersen (for mutations in the SOD1 gene)
and studies on new drugs (for mutations in FUS, TARDBP and C9orf72),
genetic diagnostics are becoming increasingly important. In 14 % of all people with ALS,
genetic changes are present in the SOD1, C9orf72, FUS and TARDBP genes – in 2 % in the
SOD1 gene.

For people with ALS who are not under the care of an ALS outpatient clinic or do not have
direct access to a laboratory for ALS genetics, the organization of genetic
diagnostics can be associated with difficulties. Another challenge is the limited
availability of human genetic counseling (by an institute or a specialist practice for
human genetics) before and/or after genetic diagnostics.

Therefore, the ALS Genetics Program of Ambulanzpartner offers a referral to human genetics centers that specialize in ALS genetics and provide resources for counseling and diagnostics.