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Single test for over 50 genetic diseases will cut diagnosis from decades to days

SWAlexander

Senior Member
Messages
1,943
Excerpt;
A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

‘We correctly diagnosed all patients with conditions that were already known, including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease and more,’ says Dr Ira Deveson, Head of Genomics Technologies at the Garvan Institute and senior author of the study.

Current genetic testing for expansion disorders can be ‘hit and miss’, says Dr Kumar. ‘When patients present with symptoms, it can be difficult to tell which of these 50-plus genetic expansions they might have, so their doctor must decide which genes to test for based on the person’s symptoms and family history. If that test comes back negative, the patient is left without answers. This testing can go on for years without finding the genes implicated in their disease. We call this the ‘diagnostic odyssey’, and it can be quite stressful for patients and their families,’ he says.

‘This new test will completely revolutionise how we diagnose these diseases, since we can now test for all the disorders at once with a single DNA test and give a clear genetic diagnosis, helping patients avoid years of unnecessary muscle or nerve biopsies for diseases they don’t have, or risky treatments that suppress their immune system,’ says Dr Kumar.

‘We’ve programmed the Nanopore device to hone in on the roughly 40 genes known to be involved in these disorders and to read through the long, repeated DNA sequences that cause disease,’ he says. ‘By unravelling the two strands of DNA and reading the repeated letter sequences (combinations of A, T, G or C), we can scan for abnormally long repeats within the patient’s genes, which are the hallmarks of disease.’
https://perkins.org.au/single-test-...ases-will-cut-diagnosis-from-decades-to-days/
 
Messages
27
Seeing this article is about two years old, it might already be available somewhere? Im thinking about doing something like this and this would of course be great

From the link

The team expects to see their new technology used in diagnostic practice within the next two to five years.

Also I guess this cant be found from genome sequencing?
 
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lenora

Senior Member
Messages
4,926
Thanks @SWAlexander. At the very least, it's a start and that makes me happy. We all wish things would move faster, but paperwork and more paperwork and grants often leave us lagging. Thanks for the information from everyone who contributed. Yours, Lenora
 

SWAlexander

Senior Member
Messages
1,943
The main problem in Australia is some of the inborn genetic diseases. For this reason, there will be a speedy search for answers that may include the device.

I would like to share a part of my email with my Australian friend in regards to inborn genetic diseases, that may affect us, as well.

Email:
I am very grateful for the link to Professor Nigel Laing. I watched his YouTube video three times because he discussed something I had been seeking information about: "Spinal Muscular Atrophy (SMA) Type 3" (
). After watching, I checked my DNA and confirmed that I indeed have the gene SMN1 for "Spinal Muscular Atrophy (SMA) Type 3".
I have spent my entire life waiting for the correct answer, while seeing many different neurologists, regarding my progressive muscle weakness.
This means that all the different diagnoses I received earlier, including Myasthenia Gravis and Post-Polio, were incorrect.
I wish I could consult Professor Nigel Laingto to have my Genetic discovery confirmed.
Now I wonder if Spinal Muscular Atrophy (SMA) Type 3 is a part of ME/CFS.
 

lenora

Senior Member
Messages
4,926
Hello @SWAlexander. Well, that's a fast answer and I hope that they'll come even faster in the future.

I did check out Type 3 SMA and unfortunately it didn't give too much info about the symptoms of the illness. I'm sure that you were relieved to find this is a contender and that you probably don't have Myasthenia and Post-Polio Syndrome. Still, are you having symptoms now? Or, if you are, I do hope they aren't too terrible. My guess is that braces would be part of any treatment plan.

Yes, I think we're going to begin seeing a lot of changes in our world thanks to DNA. Let's hope there will be cures as well as diagnoses. Thanks, Sieglinde. Yours, Penelope
 

SWAlexander

Senior Member
Messages
1,943
Still, are you having symptoms now?
Hello Penelope.
The symptoms have persisted since childhood. My leg muscles are weak, and my skeletal muscles are in even worse condition. Whenever I use my arms, they become weak within minutes, and if I persist, the weakness can last for days, leaving me barely able to hold a cup of coffee. Sometimes, I am unable to reach overhead for a plate, store folded clothing in the closet, or carry groceries. During my bouts with sepsis in 2016, and COVID in 2020, I couldn't hold a book or type on a laptop without resting my elbows on a chair's armrests. Since early childhood, climbing hills or walking up steps has been a struggle. The pain was one thing, but even more distressing was the constant ridicule from my parents, teachers, doctors, and nearly everyone I knew. They labeled me lazy and pressured me to "work harder" to build muscle.

Professor Nigel Laing, in his presentation, shared that his original aim was to identify the faulty gene and seek a cure. However, this approach was undermined by the prohibitive cost of lifelong treatment, which, he was informed, no insurance would cover. Consequently, he shifted his focus, advocating for couples to undergo DNA testing before having children who might either die shortly after birth, around the age of 5 or suffer from a lifelong disability.

Now, I wonder if people with ME/CFS have the SMN1 gene (or the milder version SMN3 or 4). Perhaps doctors are already aware of this and do nothing because they are unable to offer any treatment.
Something to think about or even test for.

What I've learned in my nearly 75 years is this: don't trust a single diagnosis if it doesn't align with what you're experiencing.
Greetings, Sieglinde
 
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