MSS 2025 Update: BioMarin Sponsorship Aims to Drive Progress in Development of Therapies for Rare Diseases

‘The science in the field of genetic variants is moving really fast and the Mutational Scanning Symposium offers great opportunities to stay connected with other institutions and colleagues at its forefront.’

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Daniel Gaffney BioMarin's Daniel Gaffney: 'We know there’s always going to be a place for predicting what the effects of variants are.'

Daniel Gaffney, Ph.D., attended the 2023 Mutational Scanning Symposium in Hinxton, near Cambridge, in the U.K. Gaffney, head of the Genomics Team at BioMarin Pharmaceutical Inc., the global biotechnology company, had been on the job only two months.

“Successful” is one word to describe Gaffney’s experience at the two-day conference. “Strategic” is probably a better one. He reconnected with former colleagues and made connections that would lead to future collaborations.

“There are conferences you attend and you say to yourself, ‘I learned a bit here and there,’” Gaffney said. “But this was not that. Every talk was informative. And I got the sense this is a vibrant community around the science. The science in the field of genetic variants is moving really fast and the Mutational Scanning Symposium offers great opportunities to stay connected with other institutions and colleagues at its forefront.”

One such colleague is Dr. Sven Diederichs, head, of the Division of Cancer Research at University in Freiburg, Germany. Although Diederichs’ research focuses on cancer and BioMarin’s work has historically focused on rare genetic conditions, Gaffney identified common ground.

“Some of the genes in Dr. Diederichs’ cancer work are also involved in skeletal dysplasias, a group of conditions that affect bone growth and have myriad downstream health effects,” Gaffney said. “We at BioMarin thought, ‘Can we make more out of the data that Diederichs’ team is generating? Can we work together to leverage shared findings to help as many people as possible?’”

The results of their collaboration will be the subject of a poster at the Mutational Scanning Symposium in May in Barcelona, for which BioMarin is one of four gold-level sponsors. The three others are the Chan Zuckerberg Initiative, Illumina, and Twist Bioscience. In addition, there are two silver-level sponsors: the Brotman Baty Institute and Constantium Biosciences.

“At BioMarin, two of our operating principles are to follow the science and that patients are counting on us. We are a major sponsor because the quality of science at the symposium aligns well with those principles,” said Gaffney.

What do he – and BioMarin – expect to get out of the conference?

“Staying on the cutting edge,” he said. “And being at the intersection of between what we do at BioMarin and resolving or improving genetic diagnoses to benefit patients with rare conditions. We know there’s always going to be a place for predicting what the effects of variants are. The marriage between those two things – leading research and effective treatment of rare diseases – is the essence of BioMarin.”

For more information on the 2025 Mutational Scanning Symposium in Barcelona, [please click here.]

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