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Professor Phil Beales Launches Axovia Therapeutics 

Professor Phil Beales has led the most comprehensive research and care efforts for Bardet-Biedl Syndrome (BBS) patients in the world and is now launching Axovia Therapeutics, alongside Dr. Victor Hernandez. The aim of Axovia Therapeutics is to advance gene therapy programs that have already shown early promise in treating some of the most severe symptoms of BBS, such as early onset blindness and severe obesity. Members of BBS UK will be familiar with the research of Professor Beales and Dr. Hernandez through attending the BBS UK Conference and reading the Conference Reports.

“Our goal is to build on the scientific discoveries and molecular diagnosis of Bardet-Biedl syndrome to accelerate the development of disease-transformative treatments for patients as early as possible,” said Philip Beales, CEO and co-founder of Axovia Therapeutics. “Our aim is to halt the progression of BBS so patients and families will experience dramatic improvements in their quality of life.”

The Axovia team is currently working to develop a gene therapy treatment for BBS1, which affects many organs of the body. The major impact of BBS includes early-onset retinal blindness, metabolic disease (including severe obesity and diabetes), intellectual disability often with autism, kidney failure and a range of abnormalities of the endocrine system.

Axovia is a majority-owned subsidiary of Jaguar Gene Therapy. Jaguar brings streamlined research and design, manufacturing and clinical operations to accelerate development and potential approval of therapies for severe genetic diseases. Axovia is backed by Deerfield Management, a healthcare-specific investment firm, partially funded by University College London Technology Fund.

Professor Beales has long been at the forefront of research, discovery and clinical care of BBS. Discovered in 1866, BBS lacked diagnostic criteria until Professor Beales established them in 1999. A year later, he co-led the team that discovered the first BBS gene and determined that the cause lies with dysfunctional cilia. This work has driven research efforts for treatments for BBS and the broader disease group of ciliopathies. Alongside this, Professor Beales developed the specialised multi-disciplinary clinics service that has provided exemplary care for patients in the UK for over ten years.

To help answer any queries that you may have BBS UK have created a Question and Answer document which can be accessed here: BBS UK - Axovia Q+A March 2020

For the website click here: https://axoviatherapeutics.com

BBS UK would like to extend our thanks to Bernie Stocks, Commissioning Manager, Highly Specialised Services, NHS England. Bernie has kindly shared some of the fantastic resources a number service leads, charities and stakeholder groups have provided to help people manage better through the second phase of the pandemic. Within the document you will find links to advice and information on wellness and sleep and diet and exercise with a particular focus on how to manage these aspects of health during the COVID-19 period. Click on the link below to download the document. If there is anything you would like to clarify or if you need any further information please feel free to contact us, we’re here to help! admin@bbsuk.org.uk

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