NGF Global Diagnostic and Treatment Initiative Heads to India

Dr. Robin A. Ely, Clinical/Science Advisor, Director of the National Gaucher Foundation (NGF) Global Diagnostic and Treatment Initiative, and NGF Co-Founder, traveled to India to speak at the Indian Society of Human Genetics 2024 Conference. Here, she shares her experience traveling abroad on behalf of NGF, and what she learned about the Gaucher and rare disease communities in India.

I left for India on Wednesday, January 17, flying from Dulles International Airport outside of Washington, D.C., stopping in Abu Dhabi in the United Arab Emirates before making my way to Ahmedabad, Gujarat, India.

When I arrived in Gujarat – a state on the West Coast of India – I immediately began to “see India.” Literally hundreds, if not thousands, of people were waiting to greet their family members arriving at the airport. It was quite a sight.

I arrived at my hotel, and fell asleep.

The next day, I met fellow speakers also participating in the Indian Society of Human Genetics 2024 Conference; they had traveled from London, Geneva, and other parts of the world. We traveled to the Foundation for Research in Genetics and Endocrinology (FRIGE) house, where we toured the facility, drank tea, and I was interviewed by a journalist from a Gujarati news outlet.

The rest of the day was spent sightseeing, as we prepared for the Conference to begin.

On Sunday, the conference started with opening presentations, including some Hindu religious songs and speeches by notable government officials. I spent the day attending lectures and meeting with key Gaucher stakeholders.

Over the four days of the conference, I met with representatives of Sanofi, Takeda Pharmaceuticals, and Kashiv BioSciences. Kashiv’s goal is to create biosimilars that are much less expensive than all of the current Gaucher drugs.

I also met with almost all of the Gaucher treating physicians attending the conference, as well as many students and fellow Gaucher colleagues from across the world.

After meeting and talking with so many Gaucher stakeholders, it’s my current assessment that there are probably 25,000 yet-to-be-diagnosed patients with Gaucher disease – and most of them are likely Type 3. The Indian government is paying for some of those patients to receive lifetime medicine and is considering increasing how much it spends on those who have been diagnosed but not yet treated.

Sanofi and Takeda are treating a small number of patients for free – 159 and 89 respectively. Overall, the diagnostic labs in India are excellent, but the access to treatment and the knowledge and education of the doctors is limited.

On the third day of the conference, I gave my talk – The Origin Story – about how my son Brian was the first person in the world to successfully receive enzyme replacement therapy. The presentation was attended by most of the conference attendees and extremely well received.

Originally, I was planning to stay in India for two weeks – using the second week to travel to remote locales and meet with patients who have reached out to NGF for help – but I was told that in no uncertain terms should a woman travel alone in India, so I returned home after the first week.

Overall, it was an arduous, but productive trip – and a good step for the NGF Global Diagnostic and Treatment Initiative.