• REN

Get to Know FOXG1 Research Foundation

Updated: Apr 25


About FOXG1 Syndrome

FOXG1 syndrome is a haploinsufficient condition caused by variants in the FOXG1 gene, located on 14q12. As of March 2021, there are 810 known patients in the world with FOXG1 syndrome today with an incidence rate predicted to be at 1 : 30K. FOXG1 was originally called Brain Factor 1 as it is one of the Most and most critical genes for brain development, and then it was called Congenital Variant of Rett Syndrome before it was officially named FOXG1 syndrome in 2016.



FOXG1 Syndrome Clinical Features

FOXG1 syndrome is characterized by one or more of the following symptoms:

• Severe developmental and intellectual disabilities

• Epilepsy (variable phenotype)

• Hyperkinetic-dyskinetic movement disorder

• Reduced corpus callosum and delayed maturation of myelination.

The characteristics of FOXG1 children and adults range across a spectrum depending on the type of FOXG1 mutation. At the severe end of the spectrum, children cannot sit up unassisted, crawl, use their hands with purpose, or talk. At the high end of the spectrum, children present with more Autism-like characteristics. Most children with FOXG1 syndrome suffer from epilepsy, and many are tube-fed.


Get to Know FOXG1 Research Foundation

The FOXG1 Research Foundation was founded in 2017 by a team of FOXG1 parents in the US and Europe. We are now a global organization with affiliate chapters in multiple countries. While the FRF launched to focus solely on developing the research strategy and funding the science to lead towards disease-modifying therapies for FOXG1 syndrome, we have grown into a deeply connected community that also offers a bevy of information, and levels of support to FOXG1 caregivers. Our mission is to

• Find a cure for ALL children with FOXG1 syndrome in the world

• all ages, all mutation types, all geographies • Provide equal access to a cure for all patients with FOXG1 syndrome in the world.

• Continue to uncover the links between FOXG1 and related brain disorders in order to solve these brain disorders affecting millions of children/people.


I am especially proud of ...

We are all sometimes in amazement of the amount of work we have accomplished since launching in Fall of 2017. As parents, we always have the desperate feeling that we’re not doing it quickly enough, but when I take a step back and realize where we are today, I feel a huge rush of pride in our team. I am extremely grateful for and proud of our incredible Science Team, the assets we have developed and have underway, as well as the new projects we are launching now. I am thrilled about the Biotech’s that are taking us on! A few stand-out achievements would be receiving the CZI grant and launching the groundbreaking digital machine-learning Natural History Study, our new Patient Data Center (rebranded registry), our Science Symposiums. I’m also so incredibly proud of our growing team of FOXG1 parents who volunteer to make this ship run smooth and on target.


Excited to REN because...

We believe in the importance of patient-organizations supporting each other along this difficult and emotional journey. Many of us do not have a background in science, big pharma, biotech, or law, and suddenly we’ve found ourselves in one of the most challenging and ambitious spaces. Having a group like REN to share learnings along the way is incredibly valuable. We hope we can help other disease groups as we learn from each other. I look forward to the day we can all meet in person and share our success stories.


My journey and motivation...

My inspiration every day is my little girl Josie, who despite her severe disabilities, smiles and laughs and defines pure joy and love. She deserves so much more and so does every child and adult who cannot do the simple things we often take for granted. Before co-founding the FOXG1 Research Foundation, I was a TV producer and then a music entrepreneur. Sure, my job was way more fun when I was talking about music all day, but this purpose Josie has given me is the greatest gift of my life. And the fact that my passion to help give Josie the life she deserves has now turned into working for every patient in the world with FOXG1 syndrome, and potentially more, is truly the greatest motivation I could ever imagine. I choose to stay positive and grateful every day, no matter how hard it could be, and I am always excited to see what’s next on this incredibly meaningful journey. I always like to say this will be Josie's story to tell one day.


By Nicole Johnson Co-founder, President FRF

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