Diagnosing some of the rare or hidden neurological disorders has been a challenge to the medical fraternity for long. Several conditions are often presented with similar set of symptoms. Inaccurate diagnosis is one of the top-most reasons for treatment delays.
Nanopore DNA sequencing is a new DNA test that can effectively diagnose over fifty genetic disorders in neurology. This can revolutionize the way some of the rare and hard to diagnose disorders are treated. Huntington’s disease, Lou Gehrig’s disease, fragile X syndrome and epilepsy are among the neurological conditions that can be detected by this advanced DNA test. A collective group of diseases often referred as short-tandem repeat expansion disorders have been known for unusual representation of symptoms which are also difficult to differentiate. The Nanopore sequencing can scan through the patient’s DNA to potentially detect a total of 37 Genes responsible for short-tandem repeat expansion disorders. This is indeed a giant advancement in the spectrum of genetic testing and rare disease diagnosis.
Rare Neurological Disorders – Genetic Sequencing and Gene Therapy Innovations
The number of rare diseases is estimated to be between 5000 to 8000. Many of the known rare diseases fall under neurological disorders category. The European Reference Network for Rare Neurological Diseases has prioritized six disease groups for the purpose of effective research coordination and outcomes. They include Cerebellar Ataxias and Hereditary Spastic Paraplegias, Huntington’s disease and Other Choreas, Frontotemporal dementia, Dystonia, Leukoencephalopathies and Atypical Parkinsonian Syndromes. Neuromuscular and neurodegenerative diseases caused due to rare genetic disorders have been closely studied in the recent times. The key challenge however lies in the lack of accurate diagnosis and reliable diagnostic techniques. NGS modalities and RND phenotypes have offered the much-needed headway. But, they could not contribute to the increase of diagnostic yield to desirable levels. Even though effective and helpful to a greater extent, the prevailing NGS techniques do not contribute significantly in early detection. Given this scenario, the new DNA test featuring Nanopore DNA sequencing can potentially offer much more to the world
of genetic testing and novel genomics.
How does Nanopore DNA sequencing work?
Nanopore sequencing is an advanced technique that works differently when compared to the traditional platforms. Real time streaming and real time access to the clinically relevant DNA information would make it more unique. Nanopore also has the advantage of stopping the sequencing process once the desired results are found. In simpler terms, this enables a real- time analysis of long DNA and RNA fragments. Nanopore technology can be adapted in all models of DNA sequencing that include whole genome sequencing, targeted sequencing, epigenetics and metagenomic sequencing. This not only makes it unique, but an advanced technique on all counts. Implementing the Nanopore technology in genetic testing is highly
desirable and beneficial in the early diagnosis of neurological conditions.
