The virtual FOXG1 Science Symposium 2020 was a tremendous success in demonstrating the work towards advancing science to find a cure for FOXG1 syndrome. Scientists from Tokyo, the UK, Italy, California and more gathered with Biopharma industry executives and FOXG1 caregivers to share data and engage in collaborative discussions towards disease-modifying therapies. Read the recap here and watch the panel discussions.

I joined Ciitizen and initiated our entry into neurological diseases because I am both passionate and desperate to find an answer for my daughter. At Ciitizen, we’re creating a platform where medical records are collected on behalf of each patient, then automatically digitized into the computational data we need. From there, sophisticated machine learning technology is used to extract clinical data in order to create regulatory-grade Natural History Studies that do not require exorbitant amounts of time, energy, or money. Patient reported outcomes can then be added by us parents.

More importantly, this database of computational data we’re creating will be accessible and open to all patients, parents, caregivers, clinicians, academics, and biopharma researchers. Our goal is to eliminate the slow, manual, and expensive processes that we currently use to collect information and use the best technologies to be quick, cost-effective and more accurate when it comes to developing research.

When Amara was diagnosed three years ago, I didn’t even know what a gene was. My background was in technology and business and I wasn’t prepared for the world of science. Luckily, my career had prepared me to tackle an impossible problem that no one has solved before. Being strategic and understanding the various pieces that need to be put together to achieve your end goal is critical in rare disease leadership. I have made mistakes over the past three years, and I have had successes. My goal in this blog series is to share those, and to continue sharing our experiences and journey of the FOXG1 Research Foundation as we work to find a cure for our children and everyone with FOXG1 syndrome.

University at Buffalo biologists Soo-Kyung Lee (left) and Jae Lee are researching the FOXG1 gene. Their daughter, Yuna, has a mutation in the gene, which has severely impacted her development. The Lees hope their scientific work will lead to a treatment. Credit: Douglas Levere / University at Buffalo.

Listener Vivek got in touch with a question about a rare genetic disease his son has, called FOXG1 Syndrome. In fact, it's so rare - and so newly-discovered - that only about six hundred people in the world have been diagnosed. Kids with FOXG1 have severe developmental delays; in Vivek's words, "everything that can go wrong - it's gone wrong with him." But the parents of FOXG1 children have been unusually tenacious when it comes to shaping the course of science. In this programme we meet those people blurring the line - metaphorically speaking - between the brain and the heart.

Rare disease is anything but rare. As many as 7,000 rare diseases affect 400 million people globally. The vast majority are not well understood, and less than 5% have approved treatments. Yet worldwide, patients are meeting these challenges head on. The Rare As One Project is committed to uniting these communities in their quest for cures.

Celebrating Rare Disease Day 2019, The FOXG1 Research Foundation, today, launched the critically important FOXG1 Syndrome Patient Registry developed in collaboration with Stanford University and digital health company, Beneufit.