GNE myopathy is an ultra-rare muscle disease with no cure so far. I am keen to understand scientific developments in GNE myopathy and related fields not just as a biomedical scientist, but also as a mother whose daughter lives with this progressive disease.
We are at a time when new scientific technologies are being created and developed at an incredible pace globally. Yet, many in the rare disease community do not have the scientific background to track and understand these scientific advancements.
We are at a time when new scientific technologies are being created and developed at an incredible pace globally. These bring hope of a treatment for rare genetic disorders that so far remained untreated. Yet, many in the rare disease community do not have the scientific background to track and understand these scientific advancements.
Through this blog I hope to inform my readers about new scientific developments and outline those that may be promising avenues in the drug development process for GNE myopathy and related diseases. It is both a challenge and an opportunity to use my expertise to bring this information to my readers, with the final goal of finding a treatment for this, and related, muscular dystrophies.
I hope for this to be an interactive dialogue on science and I encourage my readers to share their thoughts, suggestions or questions with me.
Recent Posts
Resetting life after Adult-Onset Myopathy: Acceptance, Endurance, Conquest
Welcome to my new series of blogs about stories of rare diseases that manifest later in life. Here I present the stories of three other strong-willed GNE Myopathy women coming from different socio-economic backgrounds and different life …
Where there is a will, there is a ‘Champion’.
Symptoms of rare diseases often creep up quietly, rather than arriving with the brutal shock of a sudden lifestyle upheaval. The change is gradual—unyielding and relentless in its impact. One moment, I was darting around the globe, making …
From the world of business and glamour to that of rare genetic disease: A Mom’s resolute journey as India’s torchbearer of Prader-Willi Syndrome
Shikha’s family migrated from Rajasthan to Kolkata several generations ago and set up a flourishing textile business. She had always seen a life of plenty, although tempered with discipline and hard work. She was gifted with great physique, …