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Rare Disease Day, Genomics and the Future

TAIPEI, TAIWAN, Feb. 26, 2021 – Rare Disease Day is an annual observance held on the last day of February to bring attention to the little talked about but highly life altering topic of rare diseases. Rare diseases are diseases that affect a relatively small portion of the population, but can have absolutely devastating negative health impacts on those that are afflicted. Rare diseases tend to be very rare genetic disorders that are difficult to diagnose. According to statistics, one in twenty people suffer from a rare disease and it affects more than 350 million people globally. The primary focus of Rare Disease Day is to educate about rare diseases, but also to get the attention of lawmakers, scientists and drug companies to redirect their resources to combat this threat.

Genomics and the Path Forward

As the Next-Generation Sequencing Technology is developed, the greatest tool in the fight against rare diseases is genomics. Another test that can be used in genetic testing is Whole Exome Sequencing (WES). WES is used to sequence the exome, which is the part of the DNA composed of exons. While WES is useful, the exome only contains 1.5% of the DNA. Whole Genome Sequencing (WGS) sequences all the genetic data. As a whole genetic testing is vital in the fight against rare diseases because 80% of rare diseases are hereditary. WGS has allowed for scientists to gain vital knowledge through the study of genomic mutations. WGS can be used to test for the rare mutations that cause rare diseases with unparalleled precision. WGS can be used to detect multiple variant mutations in a single array of DNA. In addition, along with unparalleled precision, the test is more affordable than other conventional tests. This combination of precision and affordability can allow for scientists to really combat rare diseases.

The 100,000 Genomes Project

The 100,000 Genome Project was funded by National Institute for Health Research and NHS England was established to detect genes and their mutations that lead to rare diseases and different forms of cancer. This project sequence 100,00 genomes from 85,00 people that are affected by rare diseases and cancer. The project is run to study these genomes and to find better treatments for rare diseases and cancer. The information they find can then be pooled and used for those purposes, thus broadening the field exponentially. The 100,000 Genome Project is integral to the work of the Medical Genome Initiative because the results compiled from this study builds upon the shared knowledge on the causes of rare diseases that is governed by the Medical Genome Initiative.

The Medical Genome Initiative

The Medical Genome Initiative was formed to support and develop the standards of use in clinical WGS for sequencing rare diseases diagnosis. For WGS to be an effective test, there must be global standards to govern and share information. There are more than 3.8 thousand rare diseases listed by Orphanet that had some form of underlying genetic cause. Orphanet is a resource that gathers information about rare diseases for the purpose of providing that information to stakeholders and the public. Orphanet was established in 1997. Of all known rare diseases, 80% of the rare diseases are exclusively genetic or consisting of genetic subtypes. Despite the revolutionary potential of WGS in the research and treatment of rare diseases, there are numerous financial, regulatory and public opinion-based obstacles that slow the advancement of the field. The Medical Genome Initiative stands as the governing body that aims to tackle those obstacles

WASAI’s concluding statements

We here at WASAI fully support the endeavours of endeavours such as the 100,000 Genome Project and the Medical Genome Initiative. Rare Disease Day gives voice to all of those that suffer from rare diseases. It falls to us to make the choices that will impact our future. WASAI is committed to continuing to develop technology to aid in the work that is being undertaken by researchers to use genomics to combat rare diseases and cancer.

About WASAI Technology Inc.

WASAI Technology's mission is to deliver acceleration technologies of High-Performance Data Analysis (HPDA) in future data centers for targeted vertical applications with massive volumes and high velocities of scientific data. To strengthen and advance scientific discovery and technological research via big data-intensive acceleration in high-performance computing, WASAI Technology aims to improve commercialization and commoditization of scientific and technological applications.



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