PLT Test Blog

  Genes make proteins and you need the right amount in the right place at the right time. I should start this post by confessing to not having carried out genetic testing on Monty, now aged 18 with autism.   When I did mention this to one autism doctor at a conference, I was surprised by her reply:- “ You did not need to.  Now there’s no point doing it”. I got lucky and treated at least some of Monty’s Differentially Expressed Genes (DEGs) by approaching the problem from a different direction. People do often ask me about what diagnostic tests to run and in particular about genetic testing.   In general, people have far too high expectations regarding such tests and assume that there will be definitive answers, leading to effective therapeutic interventions. I do include an interesting example today where parent power is leading a drive towards an effective therapeutic intervention in one single gene type of autism.   The approach has been to start with the s...

                                                 Clemastine is an old antihistamine drug that we saw in earlier posts can stimulate oligodendrocytes to work harder and produce more myelin. Myelin is needed to learn new skills and to control your body. It only starts to form in the third trimester, as the brain begins to grow rapidly. Myelination continues after birth but the rate appears to be controlled by social/emotional exposure.   The more isolated the baby is, the less myelin is produced.                            https://kids.frontiersin.org/article/10.3389/frym.2018.00020 Interruption of the myelination proces...

Cartoons in art class - Monty is getting ready for Easter break, but not in the Maldives Today’s post may sound very complicated and narrow, but it is very relevant to people with the following: -   ·         Pitt Hopkins Syndrome (insufficient expression of the Transcription Factor #4   TCF4 gene) ·         Multiple Sclerosis ·         Some Mental Retardation/Intellectual Disability (MR/ID) ·         Schizophrenia ·         Impaired Wnt signalling ·         Perhaps PAK1 inhibitor responders I do feel that Multiple Sclerosis could be treated very much better if some effort was made to translate the existing science, freely available to all, into therapy. You could greatly improve many people’s lives just by repurposing cheap existing drugs. In simple terms, to produce m...