UB biological sciences faculty member Soo-Kyung Lee, left, and UB biological sciences researcher Younjung Park work in the lab. Photo: Douglas Levere
The Rare Disease Crusaders
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.
The View Along the Path to a Cure for FOXG1 Syndrome | An Overview by Nasha Fitter
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.
10 minutes with FOXG1 Super dad Greg Wells \ By M-Team Cares
From the M-team cares blog: With Father’s Day coming up this Sunday, we wanted to know what being a father to children with disabilities really looks and feels like. So we turned to Greg Wells, rock-star dad of two wonderful daughters, Alli and Emma, both with FoxG1. We were touched by his honesty and humility in sharing what fatherhood means in his world. And, after hearing what he had to say, we're pretty sure that Alli and Emma are the luckiest girls in the world to have Greg for a dad!
Meet FOXG1 Mom, Angie Van Wingerden : 10 By MTeam cares
Meet Angie, mom to Eila and twin brothers Jack and Willem. Inspired to contribute her skills toward creating a better life for Eila who was born with a rare genetic condition called FOXG1, Angie volunteers as the CFO and Head of Operations for the FOXG1 Research Foundation.
Below, Angie tells us more about her work with the FOXG1 Foundation, shares a few stories of life with Elia and talks about what it’s like - both the challenges and the rewards - to be a mom to a child with special needs.
America Trends TV interviews FOXG1 Research Co-Founder on How to be an Advocate for Your Child
For two UB scientists, love means studying their daughter's rare disease
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.
The Naked Scientist: FOXG1 Syndrome: Fighting the Odds
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.
Chan Zuckerberg Initiative Features FOXG1 Research
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.
The FOXG1 Research Foundation Announces the Launch of its Global Patient Registry to Accelerate Research For the Rare Genetic Disease, FOXG1 Syndrome
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. This FOXG1 global patient registry is among the most comprehensive and technically sophisticated registries in the rare disease space and is the vital step in helping researchers and caregivers understand the complexities of the disease. The FOXG1 Syndrome Patient Registry can be found at https://foxg1.beneufit.com.
January Newsletter: Big Things in 2019
Looking Back. Moving Ahead.
Wow! 2018 was an incredible first year for the FOXG1 Research Foundation! We cannot thank our supporters, partners, and donors enough for helping to make 2018 an enormously successful year!
2018 Key accomplishments:
• Raised $1.3 Million for research
• Assembled a Scientific Advisory Board consisting of 16 of the world's leaders in
their fields.
• Funded six esteemed scientists' projects along our Path to a Cure in the USA,
UK, and Italy
• Launched the most comprehensive study into FOXG1 to-date,
with eight mouse models of all known FOXG1 categories.
• Developed a global FOXG1 Syndrome Patient Registry
• Developed an iPSC line Patient Biobank
The First FOXG1 Scientists Symposium - A Recap.
The first FOXG1 symposium was a tremendous success in bringing together scientists from around the world who are interested in research around FOXG1 to collaborate with one another to find a cure. Scientists from Japan, Australia, Italy, the UK, the US, and more, presented and held deep-diving sessions to discuss what we know and what we need to know to drive research for FOXG1 syndrome.