“It is hoped that the outcome of this initiative will provide an accurate projection of the true epidemiology of XDP, which is critical information for understanding and treating this disease in the Philippines,” asserted Dr. Cutiongco-Dela Paz. She added that this project is needed to provide valuable information that may serve as a benchmark for future policies targeted to improve the management and quality of life of those affected by orphan diseases such as XDP.
Researchers from the Institute of Human Genetics led by Dr. Eva Maria C. Cutiongco-Dela Paz, executive director of the UP Manila National Institutes of Health, in collaboration with the Collaborative Center for X-Linked Dystonia-Parkinsonism (CCXDP) and the Philippine Genome Center, are conducting a research project to determine the epidemiology of X-Linked Dystonia-Parkinsonism (XDP) also known as "Lubag Syndrome.”
The project aims to provide a comprehensive picture of the prevalence of the genetic cause of XDP. Although genetic studies indicate that XDP most likely represents a founder mutation that has occurred within the Panay Islands population, the actual frequency of this mutation and how widely individuals that carry it are now distributed throughout the Philippines remain unknown.
XDP, a severe neurodegenerative disease that affects individuals with maternal ancestry to Panay Islands in the Philippines, typically affects males in their fourth or fifth decade of life. The early symptoms are usually focal dystonia and tremors, followed by parkinsonism, bradykinesia, postural instability, and dysarthria. As the disease progresses, patients may experience cognitive impairment, depression, and anxiety.
The disease, which was first described nearly half a century ago, has remained a mystery for many years. However, in recent years, there has been tremendous progress in uncovering its molecular basis. The CCXDP is an international consortium of scientists and physicians worldwide formed in 2014 to find new treatments for XDP working in close partnership with neurology experts, basic science investigators, and patient advocates in the Philippines.
This massive and coordinated effort has produced groundbreaking results, identifying the genetic cause of XDP as a DNA repeat expansion in the TAF1 gene, which has opened up major new areas of XDP research and fueled tremendous excitement as work is done together towards a cure for this devastating disease.
As part of the CCXDP network, investigators in the Philippines continue to lead the way in important new initiatives, including advanced neuroimaging of XDP patients, detailed clinical studies of disease manifestation, and the establishment of the first human brain tissue repository in the Philippines.
To address these questions, researchers will use an assay designed and developed by Dr. Cristopher Bragg and Dr. Laurie Ozelius at the Massachusetts General Hospital for rapid detection of a genetic marker specific for XDP in a format compatible with automated processing of blood spot cards. The assay will be used to perform a high-throughput screening of 100,000 de-identified residual dried blood spots collected over a single year by the Philippine National Newborn Screening Program.
“It is hoped that the outcome of this initiative will provide an accurate projection of the true epidemiology of XDP, which is critical information for understanding and treating this disease in the Philippines,” asserted Dr. Cutiongco-Dela Paz. She added that this project is needed to provide valuable information that may serve as a benchmark for future policies targeted to improve the management and quality of life of those affected by orphan diseases such as XDP.
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Charmaine A. Lingdas