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Genetics and MND

Genetics and MND

Reading Time: 5 minutes This is blog number two in our ‘Symposium Blogathon’ – counting down to the 32nd International Symposium on ALS/MND. Numbers in bold green text correspond to the code in the abstract book. Click on the number to be redirected to the full abstract (the page may take a minute to load). Approximately 10% of people…

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…

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…

Fathoming MND

Reading Time: 4 minutes This article was written by our Senior Clinical Fellow Prof Martin Turner, a Consultant Neurologist at John Radcliffe Hospital, Oxford. “Will it affect my children?” This is one of the questions most commonly asked by people diagnosed with MND. The 20th century answer was a simple “no”, or at least “very unlikely”. With recent scientific…

More information for families affected by inherited MND available online

Reading Time: 4 minutes In April this year MND clinician-researchers Professors Martin Turner and Kevin Talbot at the University of Oxford organised an information day about the rare, inherited form of MND called ‘Families for the Treatment of Hereditary MND’ (FATHoM). The day was filmed and podcasts of the talks have recently become available. This article gives an overview…

Transforming skin cells into nerve cells to understand MND gene mutations

Reading Time: 2 minutes In previous research Prof Kevin Talbot and colleagues at the University of Oxford began to understand more about how the C9orf72 gene defect causes human motor neurones to die. These studies were carried out using an impressive piece of lab technology, called induced pluripotent stem cell (iPSC) technology. iPSC technology allows skin cells to be…