An opportunity to speed up development of potentially life-saving therapy for Duchenne muscular dystrophy and other rare diseases put early-stage researcher Annemieke Aartsma-Rus at the head of a COST network. The successful collaboration she led could be a model for developing similar treatments.
As a PhD student, Aartsma-Rus pioneered a form of a genetic therapy that could improve the lives of people with rare genetic diseases caused by faulty protein production. Just six years later, she set up and chaired a COST Action to drive the treatment towards clinical use.
The therapy is known as exon skipping. It uses specially engineered molecules – antisense oligonucleotides (AOs) – to hide incorrect DNA instructions – exons – for proteins so that cells can ‘skip over’ to the next instruction. The patient then produces a shorter but still functioning form of a missing protein, which reduces symptoms.
Aartsma-Rus realised networking was crucial to bringing the treatment closer to patients, and felt it could put her career on fast forward.
She founded the ‘Networking towards clinical application of antisense-mediated exon skipping’ COST Action to promote collaboration between researchers, regulators, drug companies and patient groups. The network focused on overcoming roadblocks to a possible treatment for rare diseases, using as a showcase Duchenne muscular dystrophy, a progressive muscle-weakening disease that can prove fatal at a young age.
Picture by Mr Jesús Marlasca.
‘Can-do’ collaboration
According to Aartsma-Rus, more experienced scientists in the COST Action welcomed her taking this lead: “People established in their research careers are busy, so there is a need for others to pitch in.”
Over four years, the COST network grew from 29 participants from different stakeholder groups to 119 from 18 countries.
“Everyone could learn from everyone else,” says Aartsma-Rus. The Action’s working groups contributed to standard methods to quantify dystrophin protein in muscles, regulatory guidelines for Duchenne therapy development, networking to streamline European research, and more transparent communication between scientists and patients.
One participant was Virginia Arechavala-Gomeza, a post-doctoral researcher who, after several years in the United Kingdom, was moving back to her native Spain to start her own lab. “I was concerned that I would be isolated. COST provided me with a new network that lasted beyond the Action, and my international networking experience later helped me secure renewal as head of my department.”
The Action also gave her an opportunity to build leadership skills by coordinating research in one of the working groups. “COST makes it easy for scientists to contribute at any level. If you are willing, you can do it,” she says.
Networking power
Aarstma-Rus attributes much of the COST Action’s success to its supportive, open approach. “This could be applied to the development of any drug, especially for rare diseases,” she says, adding that Action members are now collaborating in new ways.
Recognition followed when, in 2014, Aartsma-Rus was appointed to the Dutch Royal Academy of Sciences’ junior section, a select group of “the best 50” Dutch scholars below 45.
“COST helped me get a more global view of the field, including from the perspective of regulators and patient organisations. It gave me the ability to look beyond my niche, which is a quality the Academy looks for.”
In 2015, she also became professor of translational genetics at Leiden University Medical Center. “The network enabled me to organise high-level meetings and papers, which influenced my appointment.”
Prof Annemieke Aartsma-Rus is currently vice-chair of COST Action Delivery of Antisense RNA Therapeutics. You can find more information about her here.