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...

Today’s post is a standalone introduction to genetics, as relevant for lay people interested in autism. The scientists among you will likely know all this and more, but many more people are talking about genes and genetic testing these days. Genetics is the domain of some very clever scientists and to fully understand this field would require a great deal of effort.   Often the cleverest people are the least able to explain things to the rest of us. Some equally clever researchers think that there will be so many possible autism genes that it is better to focus on the much smaller number of shared affected pathways.  I stand with the latter group. Confused? He should be. As is often the case, even a basic understanding of the principles does allow you to draw meaningful practical conclusions from the ever-expanding pool of research. In most cases of idiopathic autism there is over/under expression of a very large number of genes.   Most of these genes do their job an...