FLG: Can you introduce yourself and your work at Roche?
I am a Translational Medicine Leader in the Rare Diseases group at Roche Pharma Research and Early Development (pRED), and lead the clinical development of programmes from early research through to clinical trials with patients. As a clinician scientist, my background includes medical specialisation in Paediatrics and scientific expertise in Imaging Genomics of the developing brain. I am passionate about developing innovative therapies for rare neurodevelopmental disorders, to deliver meaningful benefit for patients and families.
FLG: What do you enjoy the most about the work you’re doing?
I love working on ground-breaking science. The most powerful motivation to keep doing this work every day is knowing that our focus is to bring forward new medicines that could change people’s lives.
FLG: Are there any challenges you face in your work?
Of course! The toughest challenge is that often, even the most advanced scientific understanding of a particular disease biology does not yet capture the complexity of the real system. So although we all have great hopes for each new therapeutic approach, it can be heart-breaking if that does not deliver what we expected. I would say the second greatest challenge is making sure that we understand exactly why certain efforts were not successful and build on those insights to reach the goal of a new medicine.
FLG: What motivated you to pursue a career in this field?
It is a privilege to work with and for patients and families, and I am very grateful for this mission. As a doctor I was drawn to work with children and their families, which was an inspiring and humbling experience that changed me as a person. When I learned about the work of clinical drug development I saw this as an ideal opportunity to combine my medical and scientific knowledge to positively impact lives at a larger scale, by tackling the biological root causes of diseases that devastate the lives of many people across the world.
FLG: Why do you think we are seeing an increase in the demand for genetic data across the whole genomics fields?
I think this is linked to the development of both new diagnostic and also therapeutic technologies, that allow us to feasibly and rapidly characterise and query the genome in great detail. This gives us deeper biological insights that in turn enable us to purposefully deploy therapeutic platforms such as antisense oligonucleotides (ASOs) and gene therapy to modify core disease biology and change outcomes for patients. The opportunity for transformational therapy and more cost-effective methods also triggers the incentive to improve the identification and genetic diagnosis of new patients through population screening, or improved genetic characterisation of known patients to enable precision therapy.
FLG: What do you think is the most exciting thing happening in genomics right now?
Undoubtedly it’s the opportunity to apply targeted genetic and RNA therapies to transform the lives of patients. The recent stunning progress in spinal muscular atrophy (SMA), where there are children who are now growing and thriving whereas they would previously not have survived is an inspiring example of what is currently possible.
FLG: What breakthroughs do you see happening in 12 months or 5 years?
Within the next 12 months I think we will start to see significant advances in the types of therapeutic approaches and clinical trials for the rare neurodevelopmental disorders that predominantly affect the brain, and that have previously been considered too challenging to address but which might now also start to benefit from these new insights and technologies. However it will take time for us to see the results. There are no major data presentations expected. Over the coming 5 years I think we will start to see a more sophisticated perspective in rare diseases, such that we stop expecting that a single solution will completely solve each of these biological questions, and learn more about the biology to be able to develop combination strategies that address the disease more comprehensively.
FLG: Why are you speaking at the Festival of Genomics this year?
I have been attending the Festival of Genomics for the past few years and it’s a fantastic meeting that brings together people working on the cutting edge of genomics approaches across industry and healthcare. In my talk I would like to share our work in pioneering clinical development in genomic medicine at Roche, and bring an example of how the innovative technologies that are being discussed across the conference are being applied now for patients in trials and in the clinic.