The NFXF has carefully curated the Fragile X-specific information you need to make important decisions for yourself and your family:
— What protections are in place.
— What you may be asked to do.
— What NFXF is doing to make sure your voice is heard during all treatment development.
— And more!
FAQs About Basic and Clinical Research Concepts
Why does research start in a lab?
Research that starts in a basic science lab and is meant to inform and translate to clinical care is called translational research. Fondly coined “bench to bedside,” translational research can serve as a bridge between laboratory models of Fragile X to clinical care.
Why is that important? Studying the molecular components of Fragile X helps us better understand how individuals with Fragile X syndrome experience the world and how we can find effective treatments to improve their quality of life.
What is a knockout mouse?
A knockout mouse is a laboratory mouse that researchers use to alter DNA sequences, “knocking out” an existing gene by using a using a DNA fragment made by a lab.
Why is it important? Knockout mice are important for research because clinicians can study what happens to an organism when a certain gene is turned off or inactivated. This information gives us an idea of what happens when the gene being studied is “knocked out” in humans!
What are human pluripotent stem cells?
Human pluripotent stem cells, or hPSCs, are made from your somatic — skin or blood — cells. hPSCs can be used to create models of Fragile X because they are from an individual with Fragile X. Although a lot of mechanisms on the molecular level and during brain development are similar in mice and humans, there are a lot of differences.
Why are they important? hPSCs are important because using cells from someone with the mutation can create a better model for studying Fragile X-associated disorders. These models can help us better understand diseases, provide better information on drug effectiveness, and allow for a more ethical alternative to cell-regenerative therapy as they aren’t taken from a human embryo.
What are CRISPRs and Cas9?
CRISPRs (clustered regularly interspaced short palindromic repeats) are specialized stretches of DNA. The protein Cas9 (CRISPR-associated protein 9) is an enzyme that acts like a pair of scissors, capable of cutting strands of DNA. For example, in the Fragile X syndrome field we use CRISPR to identify the expanded CGG repeat.
Why are they important? CRISPR are revolutionary in the field of research because it allows researchers to modify DNA sequences and gene function.
What are clinical tools?
Clinical tools include data collection strategies, treatments, technological advancements, and devices that help researchers advance in their field of research.
Why are they important? Clinical tools are important because they are available instruments clinicians may use to help them gather data more accurately and efficiently.
Common Clinical Tool Examples
Physiology
The scientific study focuses on the mechanisms and functions of living organisms and body parts. Physiology provides necessary information about how our bodies are supposed to function, helping us identify abnormalities and search for effective treatments.
You may receive a physical exam as a part of a research study. This helps the researchers understand your overall physical health and monitor any changes.
Electrophysiology
This branch of physiology focuses on the electrical system of an organ (usually the heart), measuring voltage and current. Electrophysiology helps us understand how our neural pathways work, allowing us to detect heart issues or other irregularities.
You may be asked to do various electrophysiology tasks during a research study. Here are a couple of examples:
fMRI
An fMRI (functional magnetic resonance imaging) recognizes changes in blood flow to determine brain activity and has been used to study normal, diseased, and injured brain function.
EEG
An EEG (electroencephalogram) is a diagnostic test to detect the brainʼs electrical activity. It uses electrodes to monitor seizures and brain activity and to detect the cause of issues such as behavioral changes.
Eye Tracking
A device is used to determine a person’s gaze, which can help researchers understand human behavior. This tool tracks visual behavior, which can help screen cognitive disabilities and indicate patterns in learning or social behavior.
Biomarkers
Biomarkers are anything that can be used to identify the presence of a particular disease or illness in a person or animal. For example, body temperature is a biomarker for a fever, and the CGG repeat size is a biomarker for Fragile X syndrome and associated disorders. Biomarkers are essential for patient care as they are used to track a person’s risk for a certain disorder.
Outcome Measures
Outcome measures are tools used by clinicians to identify changes in health or quality of life, used to assess the effect of the specified treatment, drug, or intervention. These measures are important because they help researchers identify what is effective and what isn’t! For example, cognitive tests or IQ tests can be used as an outcome measure to identify intellectual changes after a certain intervention.
Current Research Opportunities
Here, we have our most recent research opportunities, and you can visit Participate in Research where you can browse current opportunities by condition, gender, age, and location.