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Gene Therapies May Greatly Improve Rare Disease For Cure

TAIPEI, TAIWAN, Mar. 31, 2021 – Genetic therapy and genomics have become buzzwords in contemporary language. Genomics is a booming field that has a lot of attention to it for the potential it holds to treat otherwise difficult to diagnose ailments. There are various types of genetic therapy. Broadly, genetic therapy can be defined as treatment that involves altering the genetic code of the patient to express itself in ways that combat disease or alter the structure of cells. Most genetic treatments utilize a vector to introduce whatever gene alteration is required. This can be done through creating plasmids, or repurposing inert viruses and bacteria to act as the vector. Viruses and bacteria have had billions of years to evolve in a way that enables them to hijack a host’s DNA replication systems, and use it to reproduce themselves. By repurposing viruses and bacteria, doctors can use them to administer genetic treatment.

Rare Disease Treatment and the Future of Healthcare

Aromatic L-amino Acid Decarboxylase Deficiency (AADC) is caused by a mutation that targets the DDC gene, which regulates AADC enzymes. This rare genetic mutation currently affects 120-140 people worldwide, with 30% of patients being in Taiwan. While symptoms of this rare disease vary, patients who suffer severe symptoms usually have low muscle tone, decreased physical movement abilities, have trouble sleeping, and even have troubles with language communication which can lead to damaging effects of the brain’s cognition. Patients are usually identified as severe cases when they do not respond well to the medication; this is where genetic therapy can provide hope. Genetic therapy enables patients to be treated for this rare illness as genetic treatment has the potential to reduce or eliminate these maladaptive symptoms in just one treatment.

Genetic treatment of AADC deficiency focuses on utilizing the pathways provided to researchers by adeno-associated viruses (AAV). Viruses function by acting as a parasite; using the body’s own self replication and repair mechanics to reproduce itself. Most viruses do not alter the host DNA permanently, which reduces the risk of maladaptive mutations. Researchers take advantage of this fact to treat patients suffering from AADC deficiency. AAV treatments inject new genetic material into a patient’s DNA without disrupting or causing more mutations that could be detrimental. An initial clinical trial tested the gene therapy in four people with AADC in Taiwan. Prior to treatment, all four patients were bedridden, lacked head control, and were unable to speak. Oculogyric crises (abnormal movements of the eyes into a fixed position, typically upwards) occurred every two to three days, and caregivers reported irritability and abnormally high body temperatures.

Future Treatment - Genetic Therapy and Precision Medicine

Another best option for the treatment would be precision medicine. Precision medicine is a philosophy on personalized healthcare that results in patients having a set of treatment options specifically tailored to what would best help them. Precision therapy is useful, but it can not match both the ability to diagnose a patient without a margin of error, nor can it match the ability to alter the very structure of DNA in order to introduce treatment that works at a cellular level. It is for that reason that we here at WASAI marvel at the potential of the application of genetic therapy because of how many people it can help. Genetic therapy and precision medicine are potentially revolutionizing the field of healthcare by revolutionary technology. However, genetic treatment is not merely isolated to treating AADC deficiency. AAV treatments have also been used to target and treat Parkinson's disease as well as neurological issues. Like all new treatments, it is important to ensure patient safety above all else. Initial testing has proved very positive in maintaining safety. AAV genetic therapy also has clear potential in treating illnesses and viruses that simply cannot be matched with current precision medicine. The purpose of this article is to provide a concise summary of the groundbreaking work that is being done in the field of genomics.

We here at WASAI understand the importance of advancing technology in this field. However, it is very easy to become disconnected from just how incredible these medical advancements have been in the last couple of decades. We sincerely hope that this article has been informative, and that the future remains ever brighter with each new advancement in the field of genomics.


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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