Pilot program brings genetic tools and education to patients searching for answers tied to their chronic medical conditions in Taiwan, Mexico, Argentina, Brazil, Turkey, and Russia
BOSTON, December 15, 2020 (Newswire.com) – ThinkGenetic, Inc. is set to launch three disease-specific versions of the diagnostic aid, SymptomMatcher™ for upcoming pilot awareness initiatives by global biopharmaceutical leader, Takeda Pharmaceutical Company Limited.
Six pilots, which will be released publicly in 2021, create a tailored online interactive experience to help individuals determine if their health signs and symptoms could be the result of an underlying, undiagnosed genetic condition. The initial pilot programs will focus on awareness around Fabry disease, Gaucher disease and Hunter syndrome (also known as mucopolysaccharidosis type II or MPS II).
“This collaborative undertaking not only supports important educational initiatives in genetics,” says ThinkGenetic CEO Dave Jacob, “but also harnesses the power of innovative technology to decrease the diagnostic odyssey. This partnership initiative can help provide a way for patients and healthcare providers to work together and uncover possible causes of health issues due to an underlying genetic component.”
The first phase of the pilot project began in Taiwan and focused on easy-to-use landing pages designed to educate users about Fabry and Gaucher disease. It also introduces the interactive SymptomMatcher tool specific to those conditions. These individuals will use the AI-based tools to learn if their health issues may be connected to an underlying genetic condition. As part of the tool, users are provided actionable steps in the form of personalized summary information to take to their doctor and patient-friendly questions and answers tailored to the Taiwanese population.
“Providing interactive, patient-focused tools empowers individuals and families to understand possible underlying causes of their medical issues and effectively discuss them with their healthcare providers,” explains ThinkGenetic Co-Founder and genetic counselor, Dawn Laney. “This is a critical element to shortening the diagnostic odyssey.”
Upon development of the first pilot, Takeda has added five additional countries to the program. These are Mexico, Argentina, Brazil, Turkey, and Russia.
“The initial pilot project with ThinkGenetic has raised significant interest within our organization,” says Marie Gray, Regional Franchise Head, Rare Metabolic Disease & Neuroscience, Growth and Emerging Markets (GEM) Business Unit at Takeda. “Disease awareness and diagnosis are two very critical steps in addressing the needs and treatment of patients with Rare Metabolic Diseases like Fabry, Gaucher and Hunter. The Takeda teams in GEM are motivated and excited to roll-out our disease awareness pilots in 2021 and are already planning additional launches in other countries within the region.”
ThinkGenetic is digitally revolutionizing undiagnosed patient identification by locating and educating individuals with genetic conditions using artificial intelligence (AI) solutions. For more information, visit https://thinkgenetic.com.
About Fabry disease
Fabry disease is a pan ethnic progressive genetic condition that impacts the eyes, skin, nerves, kidneys, heart, stomach, intestines, and other key body systems and processes in both men and women. Fabry disease occurs when an individual has a disease-causing change or mutation in the GLA gene resulting in the body making too little of a specific enzyme called alpha-galactosidase A. If there is not enough of this enzyme, then the body is unable to breakdown certain large molecules such as globotriacylceramide (GL-3) and so they build up in the cells that form blood vessels and other parts of the body. This build up narrows the blood vessels, interferes with cell function, and causes cells to send out distress signals to the immune system leading to inflammation and cell death. Fabry disease health issues can start at any age but based on the timing of when symptoms begin and the combination of the medical issues it is divided into 2 types: Classic Fabry disease and non-classic or later onset Fabry disease. 1
About Gaucher disease
Gaucher disease (GD) is a life-impacting genetic condition that affects the bones, liver, spleen, and other parts of the body. GD is caused when an individual inherits a change or variant in the GBA gene from both of their parents. This gene change results in the body making too little of a specific enzyme called β-glucosidase or glucocerebrosidase that is needed to break down certain fats called glucocerebrosides (GL1). These fatty substances build up in the cells of the bone, spleen, liver, and other parts of the body. Gaucher disease related health issues can start at any age but based on the timing when symptoms begin and the seriousness of the medical issues it is divided into 3 types: type 1, type 2 and type 3. GD type 1 symptoms can begin in childhood or adulthood, they are life-impacting and progressive but respond well to treatment when begun early. GD type 2 is the most severe and acute life-threatening form of the disease with health issues usually beginning before birth. GD type 3 is an intermediate, chronic form of the disease which causes issues not only with the spleen, liver and bones but affects the brain as well. Type 3 GD usually begins in childhood and is slowly progressive. 2
About Hunter syndrome
Also known as mucopolysaccharidosis type II or MPS II, Hunter syndrome is a progressive genetic syndrome in the category of lysosomal storage diseases. Individuals with Hunter syndrome are not able to break down a sugar molecule called glycosaminoglycan (GAG) in their cells to smaller molecules because they are missing an enzyme called Iduronate 2-sulfatase or I2S. This causes the GAG molecules to build up in a compartment of the cell called the lysosome, and it to stop working, causing the symptoms and features of Hunter syndrome. Hunter syndrome is inherited through families in an X-linked pattern, so that it primarily affects males; however, rare females have also been diagnosed with this disease. 3, 4, 5
- Fabry disease – ThinkGenetic: ThinkGenetic. (n.d.). Retrieved November 11, 2020, from https://www.thinkgenetic.com/diseases/fabry-disease
- Gaucher disease – ThinkGenetic: ThinkGenetic. (n.d.). Retrieved November 11, 2020, from https://www.thinkgenetic.com/diseases/gaucher-disease
- Overview: What is mucopolysaccharidosis type II (MPS II) disease? (n.d.). Retrieved November 11, 2020, from https://www.thinkgenetic.com/diseases/mucopolysaccharidosis-type-ii/overview/3101
- Mucopolysaccharidosis type II: MedlinePlus Genetics. (n.d.). Retrieved November 11, 2020, from http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii
- MPS II. (2019, July 31). Retrieved November 11, 2020, from http://mpssociety.org/mps/mps-ii/
- Learn About Hunter Syndrome. (n.d.). Retrieved November 11, 2020, from http://hunterpatients.com/