Friday, 6 December 2013

Future Science - Accurate Diagnosis of Autism Phenotype using Brain Biopsies grown from Skin Cells

This is a post for the scientists among you, that like to separate science from pseudoscience.

You may not be aware that in recent years some revolutionary science has been developed allowing you to create a brain biopsy from a sample of skin.  I was rather taken aback when I first read about it, but it is true.  Researchers are now creating their own artificial biopsies, on which to experiment.
I first read about this in work being done at Stanford, looking at Timothy Syndrome.  I did not really focus on the importance of what they had done.  Without physical samples, it almost impossible to develop medical therapies and you cannot take brain biopsies from living people.  Rats and other lab animals are never going to be an adequate substitute.   

Here is a link to Johns Hopkins, where there used the same technology to make a brain sample with Huntington’s disease.

The true potential of this technology is amazing.  Today, it is being used to create samples, with which researchers can carry out experiments.  In future, it could be used as a diagnostic tool, just like when somebody goes to the gastroenterologist and has an endoscopy.  The doctor takes a sample from your intestines and sends it to the lab for analysis; hopefully a few days later you get a call saying the sample had no cancerous biomarkers, or other nasties.

In the case of autism, the skin sample would be turned into stem cells and then neurons from specific parts of the brain could be made.  These samples would then be tested to reveal specific dysfunctions.  This is exactly what was done at Stanford to make samples of Timothy Syndrome, a rare condition nearly always comorbid with autism.

Stanford Research
“We developed a way of taking skin cells from humans with Timothy syndrome and converting them into stem cells, then converting those stem cells into neurons,” says Ricardo Dolmetsch.

He then identified an experimental drug that could reverse the effects.  This phenotype can be reversed by treatment with roscovitine, a cyclin-dependent kinase inhibitor and atypical L-type-channel blocker.
Roscovitine, also known as Seliciclib or CYC202, is an experimental cancer drug produced by a Scottish/American company called Cyclacel. Don’t expect it to be a cheap drug; Goldman Sachs is one of the main shareholders.
Ricardo is from Cali in Colombia and so I had better shift him to my Dean’s List post-haste.

At some, not so distant point in time, people with a lot of money will be able to identify the precise phenotype of their child’s ASD and then they will know exactly what the optimal treatment is.

Once this technology becomes established, maybe in 50 years, I think Psychiatrists will become an endangered species.  We will need a lot of neurologists and for many people with mental health problems, there will at last be the chance of a very precise diagnosis and a matching drug therapy, created and tested on “human” brain samples made from stem cells.
Hopefully by then, the American Psychiatric Association’s DSM nonsense will be relegated to the trash can (or dustbin, for British readers).  Patients with brain disorders will be diagnosed and treated by neurologists and supported by psychotherapists, psychologists, behavioural analysts and other professionals.





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