Dr Salman Kirmani
Chair Division of Women & Child Health, Aga Khan University, Karachi
Bio: Dr Kirmani is a Clinical Geneticist and Paediatric Endocrinologist, and leads the Division of Women & Child Health at the Aga Khan University, Karachi. They have created a team of genomics literate health professionals and scientists, who endeavour to make Genomic Medicine a reality for the underserved population of their region. Treatment and prevention of rare genetic disorders is at the forefront of their mission, and they have made key partnerships in academia and industry to make this happen.
Q. This will be CamRARE’s 5th summit. What is the most impactful and promising change you’ve seen happen in rare disease progress in the last 5 years?
Onsemnogene Abeparvovec treatment for SMA.
Q. How has your work impacted rare disease progress over the last 5 years?
We have made genetic testing available to patients in Pakistan and the neighbouring region.
Q. What next? What do you want to see happen or change in the next 5 years that will have the most impact on diagnostics, care or treatment for those affected by rare conditions?
The cost of therapies has to plummet for these to be accessible to our our population.