|
For several years I have been mentioning that decreased brain myelin (dysmyelination) is observed in Alzheimer’s disease. I didn’t want anyone to panic because it was not known if dysmyelination is a cause of Alzheimer’s or if brain myelin is just damaged because of the toxic build-up of compounds that are the actual cause of Alzheimer’s. But the evidence is mounting that having reduced brain myelin (i.e. 18q-) sets one up for early cognitive decline and dementia. Maybe it is time to panic!
We are on it, but we need your help. Because we have been aware of this possibility for several years, we devised a research plan for treatment development. Such a plan has several parts. We are establishing 18q- cell-based models (organoids) to screen thousands of potential drugs that will normalize 18q- dysmyelination. We have also begun work to create mice with 18q- dysmyelination on which to test the effectives of any promising candidate drugs in a whole animal. We have a small pilot grant, which is about to end, from the National Institutes of Health (NIH) to begin this work. But given the recent massive cuts to the NIH budget there is essentially no chance that we will be able to get funding to continue this work therefore it will come to a stop. In addition, we recently submitted a grant to the NIH to establish the clinical tests necessary to measure improvement in myelin for potential use in future clinical trials. We must identify myelin relevant assessments and measure them over time in people who are untreated, so we have a baseline to compare to once a possible drug treatment is being trialed. The grant to do this was not funded primarily due to the lack of preliminary data. But we can’t get preliminary data without funding. It is a catch 22. And again, with the drastic cuts to the NIH budget the chance of future funding for this is nonexistent.
This work is important because dysmyelination of the brain is the most common feature of people with 18q- and therefore affects the largest group of members of the Chromosome 18 Registry. Even though this specific project involves 18q-, if we can make progress toward treatment for 18q- then our chances of gaining funding to improve functioning for the other chromosome 18 conditions dramatically improves. The scientific community does not believe it is possible to treat chromosome abnormalities. Once we prove them wrong, doors will open which will help everyone with a chromosomes 18 condition.
And yes, it is time to panic as our loved ones near middle age. No one else is doing this work, so it is up to us. The Chromosome 18 Clinical Research Center can do the science, but not without the funding for MRI scans, lab testing kits and specialist evaluations. If the funding doesn’t come from the NIH, then it is up to the Registry membership to do the fundraising. Lemonade stands, golf tournaments, corporate connections, it all matters and it all adds up. None of this can happen without you – yes you, reading this right now! Click on this link and make a commitment for how you plan to be part of the solution.
| 
