A day-in-the-life of a scientist studying rare diseases is typically filled with unique challenges. Researchers often face a lack of existing literature, in addition to hesitant investors, which usually results in their heading into uncharted territories with limited funding.
But for Morten Duno, a clinical geneticist at Rigshospitalet in Copenhagen, Denmark, the advancements in next-generation sequencing (NGS) technologies are quickly lowering that daunting barrier-to-entry.
Throughout his career, Duno has focused his efforts on the diagnosis and treatment of more than 200 genetic disorders. This list includes two rare diseases: Osteogenesis imperfecta, otherwise known as brittle-bone disease; and Vascular Ehlers-Danlos syndrome, a condition that involves thin, translucent skin and easy bruising.
When asked what motivates him in this challenging line of work, Duno stated, “It is extremely gratifying to be able to help patients with rare disorders — along with their families — to finally arrive at a definite genetic diagnosis. Many of these patients have been seen by numerous health authorities, and have often had a quite prolonged medical history, before the final causal diagnosis is established. For some, receiving a definite diagnosis opens new possibilities in terms of treatment options.”
In an effort to bring much-deserved attention to researchers such as Duno and his peers, a European-based rare disease group known as EURORDIS started an international campaign called Rare Disease Day. This Wednesday marks the eleventh anniversary of the event, which is held on the last day of February each year to raise awareness about rare disease and the outstanding need for treatment.
Rare Disease Day aims to highlight the fact that, collectively, rare diseases are not so rare. There are approximately 7,000 different disease types, amounting to an astounding 30 million patients suffering in the US alone. More than half of those affected are children, resulting in infant mortalities and pediatric hospitalization.
In addition, there are only about 470 therapies available, representing just five percent of known rare diseases. Being that 80 percent of rare diseases are genetically based, genetic research is at the epicenter of this conversation.
When discussing his research work involving the sequencing of brittle-bone disease and Vascular Ehlers-Danlos, Duno explains that many of the relevant genes for these two rare diseases are often quite large and, thus, unsuitable for traditional Sanger-sequencing.
“Ion AmpliSeq On-Demand panels offer a very easy workflow, and can deliver high quality genetic data fast. As such, so it’s ideal for targeted NGS analysis on a broad scale”, said Duno.
The more we focus on rare disease research, the better the outlook for patients and their families. With NGS solutions such as Ion AmpliSeq On-Demand panels and Ion GeneStudio S5 System available to researchers such as Duno, there’s no limit to what the future will hold.
“NGS is, by all means, a true revolution for genetics and rare disease research…and it’s only just started!” Duno said.
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