Gene Therapy: Effectiveness on Rare Brain Disease in Boys

Gene therapy was studied on a range of genetic diseases and were followed up later in life. One of those, a rare brain disease “Cerebral adrenoleukodystrophy,” results in a loss of neurological function and early death which happens in children in “the prime of their childhood development.” There were 77 boys which received “eli-cel” (elivaldogene autotemcel) therapy six years ago. The therapy places a healthy ABCD1 gene onto a Lenti-D lentivirus which replaces the malfunctioning ABCD1 gene. Today most of the boys are free of disability and show no decline in brain function. In another study, 6 of 35 similar patients developed blood cancers associated with the therapy but is considered a better situation compared to the imminent death most of the boys faced before the therapy. The researchers are trying to figure out where and how this problem arises in their therapy process to hopefully further improve its effectiveness.

Other studies show similar effectiveness in eli-cel gene therapy. 94% of 32, 3-13 year old boys, showed no loss of neurological function and 80% were disability free. In another trial containing 35 similarly aged boys, 6 of the boys ended up with a blood cancer again. 5 of them have myelodysplastic syndrome (MDS), where blood cells are improperly formed, and 1 has AML, where too many white blood cells are produced.

These studies are great because they show that gene therapy is increasing in its effectiveness and can be used more often to treat these various genetic diseases. I believe that receiving a cancer is better than living with severe disability and imminent death. I hope that these studies continue, and the researchers can discover a way to either improve or adjust the therapy in a way which the chances of side effects like cancer are severely reduced. Maybe they can get it to the point where there are 0 side effects and expand the therapy to other types of genetic diseases.

Links

https://www.usnews.com/news/health-news/articles/2024-10-10/boys-treated-with-gene-therapy-for-rare-brain-disease-doing-well-6-years-later

https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/what-gene-therapy

Genetics of migraine: where are we now?

This article examines how migraines are influenced by both environmental and genetic factors. It has been found that there are certain variants that contribute to networks of molecular differences. So far, there are 180 different variants of either neuronal or vascular that all account for a slight increase in migraine risk. Other factors like high blood pressure and depression also play a role in the risk of migraines. 

Having a migraine can be disabling to everyday tasks. It is a complex neurological disorder in which genes interact with the environment and themselves. More recent studies have concluded that there is a heritability of about 42%. There are different classes or “varieties” of migraines. Each of these varieties has a different genetic mutation in mitochondrial DNA that leads to an increase in susceptibility to migraine. Additionally, studies were done on the reactions between migraines and other diseases. 

As of the last 15 years, there has been a lot of progress made on migraines and its genetics. In my opinion, due to the debilitating nature of migraines this research is very important and has even lead to research on the interconnectedness of other diseases. The technology we have today opens up a lot of opportunity to do more research and find more answers. It is eyeopening to consider all of the possible new developments in this research. Much more studies must be done but it is promising based on the amount of research and knowledge already found. In the future further studies need to be completed on the loci where the susceptibility to migraines is found and specifically on mapping these loci. Additionally more research needs to be done on the relationship between migraines and other diseases. All of this information could lead to better ways to treat and even prevent a migraine.   

Articles:

https://link.springer.com/article/10.1186/s10194-023-01547-8 

https://www.tandfonline.com/doi/full/10.2147/NDT.S282562