How Can the Diagnosis and Treatment of Rare Diseases Be Improved?

Rare diseases have brought a more significant impact on the lives of several people more than AIDS and cancer combined, and statistics show that more than 450 million people are suffering from rare diseases worldwide. These rare diseases have escalated due to lack of education, shortage of improved technologies and infrastructure, which has made the diagnosis of these diseases so challenging. However, the good news is that steps are being taken to improve the diagnosis and treatment of rare diseases worldwide.

The Focus Should Be Changed from North America and Europe to the World

For the last 25 years since rare diseases emerged, little has been done to diagnose rare diseases. Focus has been on North America and Europe, thereby neglecting other countries. According to current data, 160,000-180,000 rare disease patients identified yearly came from Arabic countries and, at the same time, had autosomal recessive diseases. This scenario is attributed to the social norms that see a more significant frequency of same family marriages. Additionally, the family size in Arabic countries is also more significant than that of the two continents. Looking at the problem globally will therefore help to provide more diagnostics and treatment options.

Diagnosing Rare Disease Is a Big Challenge

The genetic makeup of different ethnicities is one major factor that should be taken into consideration when diagnosing rare diseases. For example, “a mutation in a Mongolian population might not have any functional consequence but the same mutation might have a big consequence and cause a disease in Caucasian populations.” This implies that thorough interpretation and analysis of medical information is essential to enable proper diagnosis. Sequencing a genome is not challenging; the difficulty lies in the accurate interpretation of the available information. Adequate handling of data is critical to avoid the misdiagnosis of patients.

Data Collection and Analysis Should be More Efficient

The collection of data from various ethnicities for the diagnosis of thousands of patients with the same disease should be coordinated globally. Furthermore, combining genetic testing with metabolomics and proteomics has interpreted data as accurate as possible. The multi-omics approach can give the medical community a better understanding of whether a given mutation may cause functional consequence on a metabolite level. To make the diagnostic process easy, it is important to come up with a system that permits doctors to simplify the sample collection process.

Global Awareness for Rare Disease on Rare Disease Day

Rare Disease Days have been organized since the founding of CENTOGENE by its founder Rolf and his team. On February 29 this year, the first global event was held in three cities around the world in Berlin, Mexico City, and Lahore. Rare Disease Day is always used by CENTOGENE to raise awareness and share information on rare diseases with doctors, scientists’ organizations, patients, and the general public.

The Future of Rare Diseases Lies on the Heart of Innovation

The rare disease space is experiencing a lot of innovation from pharmaceutical companies, and innovations like CRISPR and RNA silencing technology are changing the rare disease landscape. However, the high cost of these innovative drugs is an enormous burden on health care systems globally. These high costs need to be brought down, and the challenge of diagnosis and treatment of rare diseases will be a thing of the past. Entities like Predictive Oncology (NASDAQ: POAI) have clearly taken this challenge seriously and are doing their part to make diagnostics more reliable and affordable.

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