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FaTHoM 2: UK-leading MND clinicians on inherited MND

FaTHoM 2: UK-leading MND clinicians on inherited MND

Reading Time: 4 minutes After its successful premiere in 2017, the University of Oxford organised another meeting of people affected by inherited MND, called ‘Families for the Treatment of Hereditary MND (FaTHoM)’. This turned out to be yet another excellent day where MND clinicians-researchers presented on topics such as genetics of MND, genetic testing and gene therapies. Below you…

Tofersen: antisense oligonucleotide drug shows promising results in Phase 1/2 trial

Tofersen: antisense oligonucleotide drug shows promising results in Phase 1/2 trial

Reading Time: 3 minutes A recent press release by the pharmaceutical company Biogen reported preliminary results from an ongoing clinical trial investigating a form of precision therapy in people with SOD1-related MND. This drug, known as tofersen, is now in the final stages of Phase 1/2 testing in centres across the world, including Sheffield in the UK. Tofersen is…

Steps to understanding MND
According to the multistep hypothesis, the six steps necessary to develop MND reduce to four in people with TARDBP gene mutation, three steps in C9ORF72, and two steps in SOD1.

Steps to understanding MND

Reading Time: 3 minutes Love them or loath them, the band Steps’ first single ‘5,6,7,8’ was a techno line dance song released in 1998 from their debut album ‘step one’, with the B side ‘words of wisdom’. Using this forced and purely tenuous link and an equally awkward segue, I would like to share with you the news that…

SOD1 Stuff

Reading Time: 4 minutes With all the talk of new gene discoveries in recent years, the Sunday morning scientific session returned to the original discovery in 1993 that mutations in the SOD1 gene were responsible for around a fifth of familial (inherited) MND cases and 2-3% of all cases of the disease. Although much of our understanding of MND…