The FOXG1 Factor: Shining a Light on Not-So-Rare Diseases

The FOXG1 Factor: Shining a Light on Not-So-Rare Diseases

December 8, 2022 | Author: Nasha Fitter, FOXG1 Research Foundation

For those of you with kids, you may remember the infant and toddler years as exhausting. The sleepless nights, the tantrums, the diaper changes, the arguments with your spouse as to who should do the 3 am feed. Now imagine if your child always remained in this stage. Couple that with a plethora of insanely strong medications with horrible side-effects, countless hospital and ER visits, thousands of seizures, arguments with insurance companies, screams from your child that you can’t understand as they are non-verbal, and the helplessness of doctors who don’t really understand your child’s disease. This is the life of a rare disease parent. My six year old daughter Amara suffers from a rare, neurodevelopmental condition called FOXG1 syndrome, and like many other rare disease families, neither of us has really slept properly since she was born.

The word “rare” in Rare Diseases is a misnomer. 1 in 20 people, half being children, will suffer from a rare disease in their lifetime. And when this happens, the tragic reality is that only 5% of rare diseases have an approved treatment. Their only hope is dependent on whether a patient advocacy group exists for their disease. Why is this? For one, the National Institute of Health –  the US government department responsible for all government funded research – only allocates about 2% of their research budget towards rare. This situation becomes even more dire when you look at where pharma is spending the most money – mainstream cancer and immunology. So who is focused on rare? 

It’s hard knowing that while we live in the richest country in the world, the government doesn’t have our back, and even with FDA incentives, pharma doesn’t see that our diseases will make them enough money. But like many other rare disease parents, I refuse to be a victim. I am an entrepreneur, having started companies in both the US and India, and I decided to view this as another entrepreneurial challenge – something I needed to solve, despite the significant barriers in our way. I co-founded the FOXG1 Research Foundation (FRF) and together with an amazing team of like-minded parents, raised money, funded scientists, created animal models and cell lines, started drug screens and gene therapy pilots, and organized our community. We also used our entrepreneurial acumen to create a digital natural history platform that is now being used by over fifty other rare disease groups and has sped up the time to clinical trials by five years. We were awarded a Chan Zuckerberg ‘Rare as One strategic partner’ for this work. 

It’s no surprise that parents are the ones driving cures for rare diseases. Most of the current clinical trials to combat rare disease through gene therapy are a direct result of investment and research from parent-led advocacy groups – not academia or pharma. Additionally, solving for single gene conditions has a massive impact in curing larger diseases. Given this, it is stunning that barely any grant mechanisms for our groups exist. Thus, on top of caring for a medically fragile child, becoming neurologists and scientists, we’re expected to raise millions of dollars with few avenues. We are wholly reliant on private philanthropy, and unfortunately, many philanthropists don’t realize how reliant we are on their assistance, how critical this work is, and how successful we are when given a chance. 

I’m very proud that in five years, FRF is seen as a leader in the rare disease space. Our mission is to find a cure for FOXG1 syndrome, and at the same time improve the current drug development process to benefit all rare diseases. Our successful natural history platform is just one example. 

Thus my ask to you all is simple: Can you carve out a portion of your philanthropic portfolio for rare diseases? I can assure you that if you choose to donate to the FOXG1 Research Foundation, you will have a direct impact in finding a cure for our condition, and you will help create platforms and solutions that benefit many other disease groups. 

From a mom and entrepreneur, please take time to learn about rare diseases and elevate our cause. Go to https://foxg1research.org to learn more.


Nasha Fitter co-founded the FOXG1 Research Foundation shortly after her daughter Amara was diagnosed. She is also the VP of Clinical Data at genetic testing company Invitae. Nasha serves on the public board of the ACMG Foundation for Genetic and Genomic Medicine and speaks frequently on the impact of rare diseases on patient families. Nasha has an MBA from the Harvard Business School. https://www.linkedin.com/in/nashafitter