Many of our ADSL families have been working to fundraise revenue to support a study on ADSL that is currently taking place in Italy. This project was really pushed forward by our lovely Benedetta Contardi, who met with many professors and researchers and convinced them that this was something they wanted to study. And she's also been hugely responsible for spearheading a lot of the fundraising as well. Anyway, she has asked me to put together an update for all of you so that nothing is lost in translation.
Doctor Andrea Bartuli, who works in the Rare Diseases and Clinical Genetic Unit of the Bambino Gesu Children's Hospital in Italy, is heading up a research study of ADSL. This study is in contact with 25 patients with ADSL around the globe and has collected survey data from all of these families. They recently presented their initial results to others in the rare disease field at a conference in Rome.
They are trying to 1) use our survey data to determine a relationship between the specific genetic mutation a patient has and the severity of their presenting symptoms, 2) develop models for the causes of cellular deficits caused by ADSL's different mutations (this is usually the first step in understanding a disease and it doesn't currently exist for ADSL), and 3) better understand the errors in metabolism caused by ADSL in hopes of developing therapies for patients.
The only public part of the survey data that I can see at the moment, is that the team has classified 23 of the 25 patients as severe, and 2 as mild.
The more exciting part (in my opinion) of their presentation was that they have given ADSL to house flies! (I can't share their DNA editing technique because their paper hasn't yet been published). Apparently even house flies can even have seizures.
I kinda feel bad for the fly. But I'm really grateful that they can do this.
The idea is to give flies different mutations of the ADSL gene, and see if we can figure out a relationship between the specific mutation, and the severity of symptoms. And also giving the mutation to flies (and eventually maybe to mice, if I'm remembering correctly) may also help us better understand which cellular processes are affected by ADSL deficiency because a fly is much simpler to understand with a lot less confounding variables to control or confuse the results. We actually already know that ADSL substrates seem to have some effect on various cellular processes including: mitochondrial metabolism, glucose homeostasis, and may be an epigenetic modifier (whatever that means...).
Anyway, apparently the presentation caught the attention of two other researchers who may soon also be joining the project.
On a slightly unrelated note, the research team in Paris, led by Doctor Zikanova, that is also working with ADSL families in France, and has apparently contacted that research team in Italy about a possible collaboration. Keep your fingers crossed! The more we know, the better we can take care of our children!
If you want to continue to support this research, you can donate through our GoFundMe campaign. Benedetta periodically posts receipts to our private group of money that is donated to the university from this campaign. Or you can reach out to her for directions on how to donate to the university directly if you don't want GoFundMe to take their small cut. (I personally find that the GoFundMe takes the hassle out of donating so I can donate more often. I tend to donate every year around Christmas and my son's birthday in February).
If you want to contact any of the researchers directly with questions about their research, here are their names:
You know you want to support these kiddos!!
