Genomics for all Populations
Focusing on enhancement of genomic healthcare in low-income countries, committed to fill the population data gap and advance genomic medicine.
Our mission
We started this project because we studied young children with unknown diseases from low-income populations and because local doctors did not have capacity to find a cause of the disease.
We studied these patients in Cambridge University, when we saw clinical symptoms we immediately thought about lysosomal disease, the area of our expertise. We tested every known lysosomal enzyme. All of them were normal. We took DNA from family both parents and a child and analysed this by exome sequencing. We were able to find a rare variant in the gene VPS33A.
But these patients are not the only patients with unknown diseases. Around 900 patients have a lysosomal disease in Kazakhstan, but only 7% of them have a diagnosis. Many patients remain undiagnosed or misdiagnosed. But really the saddest part that we have the technology that can solve the problem – it is much easier than it was before to identify the cause of the rare genetic diseases. If we bring this technology to low income countries, we could significantly improve lives of these young children.
Our approach
The solution needs to be more than just a genetic analysis service to be effective, and we as such we have come up with a holistic approach to reach patient populations in Central Asia.
This includes…
Population-adapted sequencing kits
Precise analytical systems to capture genomic data
Development of systems that empower researchers to share diverse data to help us better understand the nature of rare diseases.
By taking this approach, we can build a strong foundation for the development of new drugs targeting rare genetic diseases such as lysosomal disease.
Transforming healthcare in low-income countries
Local sequencing kit
Population-specific solutions
Diagnostic for genetic diseases
Personalised medicine
Building a unique analytical platform
Precise analytical systems
Adapted to Central Asia populations
Empowering researchers
Share the diverse data to help understand nature of diseases.
Foundation for development of new drugs
Collaboration opportunities
We are developing collaborations to create a platform for integration of clinical medicine, fundamental science, and industry expertise in understanding of genetical and pathophysiological mechanisms of common and rare diseases.
Further engagement with this project will help to create a foundation for potential translational development of emerging innovative therapies for lysosomal diseases in underserved populations in Central Asia.
Collaborations are already being established with medical practitioners and geneticists, with the potential to extend this initiative to a global challenge research programme in the field of genetic diseases in Kazakhstan and other countries.
Who we are
Dr Elena Pavlova is a clinician and research scientist developing a new preventive treatment for blood and liver cancers based on more than 15 years of research in Cambridge University. Elena’s experimental studies have revealed new insights into association of autoimmunity and Gaucher disease. Clinically she is specialised in paediatric liver diseases with research interests in lysosomal diseases.
Elena holds a Master’s degree in Genomic Medicine from the University of Cambridge and a PhD in Medicine from the First Moscow State Medical University. She has also completed Postgraduate Certificates in Genomic Medicine and Research and Innovation Leadership at the University of Cambridge.
