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Genome sequencing

Interesting article that is related to our disease.

The 100,000 Genomes Project involves several teams of scientists, all of whom have been working towards a remarkably ambitious goal: the sequencing of 100,000 genomes of individuals affected by rare disorders and cancers.


"The boy had a fault in the gene Grin-1, a very rare mutation that causes moderate to severe intellectual disability"

“There are between 7,000 and 8,000 rare disorders like the one that affects Sam,” says Professor Mark Caulfield, the project’s chief scientist.

“Some do not have names and in many cases we do not know the causes. And yes, each is rare: but because there are so many of them they still have a considerable impact on the wellbeing of the nation. Almost 3 million people are affected by a rare disorder in the UK. Usually these manifest themselves at an early age, in the first two or three years of life, and about a third of those affected will die by the age of five.”

The article goes on, but maybe there are subtle variations in our ABCD1 mutation. Maybe.

Some of us are in severe pain, blind, dementia, wheelchairs.

I am lucky to be walking in middle-age.

Any of us who haven't had a genetic test should get it done. It will all contribute to the worldwide sequencing and understanding of the human genome.

Drugs, treatments, cures? Well, I am still waiting, and munching away on Modafinil,






and I have been using my TENS machine a lot lately.


I have to say, sending electricity through your muscles is great for alleviating spasticity.

I have been reading up on this, I'll make another post soon.

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Have you started TUDCA? This, to me seems like the most promising of everything thus far. I’ve started 2 grams about two weeks ago.