A milestone has been made as FAST Spain awards its first research grant to a pioneering research project on two novel biomarkers for Angelman syndrome. We are so proud of FAST Spain for this accomplishment!
A message from Cesareo Goyanes-Duran, a board member of FAST SPAIN: The focus of this project is to identify specific markers in body tissues and fluids, to gain a deeper understanding of how Angelman Syndrome progresses at a molecular level and assess the effectiveness of potential treatments. By examining the endocannabinoid system and gene activity, we may be able to uncover these needed biomarkers. This could lead to improved methods for predicting and monitoring the severity of Angelman Syndrome, as well as setting new standards for correlating treatment strategies and clinical outcomes.
General Objectives:
To identify objective, sensitive, and specific biomarkers, needed for establishing therapeutic efficacy and assessing disease progression.
To consolidate a Natural History Registry and create a Biobank of biological samples from individuals living with AS.
Potential Biomarker One: The body's Endocannabinoid System
What is the Endocannabinoid System? Endogenous cannabinoids, or endocannabinoids, along with cannabinoid receptors, comprise the endocannabinoid system (ECS). The ECS influences a wide range of functions, including mood, sleep, appetite, pain sensation, immune response, and memory.
Measuring Endocannabinoids: Scientists will measure the levels of naturally produced endocannabinoids in the blood. Endocannabinoids are part of the body's natural regulatory system, and their levels can change to regulate the bodily functions listed above.
Data Analysis: The data collected will be analyzed to identify any differences in endocannabinoid levels between the individuals living with AS (80 children) and the control group (80 neurotypical children), comparing an initial observation and another two years later.
Why is this Research Important? By measuring the endocannabinoid systems, researchers hope to identify potential changes that are specific to the severity and progression of AS. Changes in the ECS following treatment could be a biological readout used to evaluate the effectiveness of therapeutic intervention.
In simpler terms: The goal is to identify specific markers in body tissues and fluids that can provide a clearer picture of how AS progresses on a molecular level and how well potential treatments might work.
Potential Biomarker Two: The Transcriptomic Profile
A transcriptome profile is essentially a detailed picture of all the RNA in a cell or tissue at a particular time. RNA is the "messenger" that carries instructions from DNA on how to make proteins, which are the building blocks of our body and perform most of its functions.
Scientists will compare the transcriptome profile between individuals living with AS to determine if this is correlated with the symptoms of AS.
In both potential biomarker cases, if statistically significant, these differences could then be used to determine if an experimental drug/therapy is changing these measurable parameters and if the extent of these changes' correlates to therapeutic outcome.
