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.

The first step is to create your destination and strategy. Without those, you cannot motivate people to join your cause. 

In our case, the end destination is not just a singular cure for FOXG1 syndrome. It is to find a host of therapies to help our children. This includes gene editing, gene therapy, RNA therapy, ASO therapy, small molecule therapy, naturopathic therapies. It was clear that for the most part, biopharma would be developing these therapies (or for approved small molecule therapies potentially compassionate use-cases with trials conducted at academic centers). But generally, biopharma was our target. 

After spending a considerable amount of time speaking to various biotech representatives, we realized each one of these therapies could take tens of millions of dollars to develop, and we needed to “de-risk” the investment and make our disease area, FOXG1 syndrome, appealing for industry.

Here are the areas we began focusing on:

  1. Organizing patients

    1. FOXG1 Patient Registry 

    2. FOXG1 Patient Biobank

    3. FOXG1 syndrome Parents Facebook Group

  2. Understanding the clinical side of FOXG1 syndrome

    1. FOXG1 Patient surveys / registry

    2. FOXG1 Natural History Study

  3. Building FOXG1 Assets for testing

    1. HEK lines

    2. IPS lines

    3. Rescue mouse models

    4. Patient specific mouse models

    5. Humanized mouse models

    6. Zebrafish screening platform

    7. Investigating higher order animals

  4. Understanding the molecular and cellular pathways of FOXG1 and surrounding area

    1. Characterizing IPS lines

    2. Characterizing animal models

    3. Investing in basic science

  5. Conducting screens

    1. Screening ASO targets

    2. Screening small molecule drugs

I will be delving into each of these areas in subsequent blog posts. Below is an info-graph showing the FOXG1 syndrome Path to a Cure. Note that all of our research projects can be found on our website HERE.

Thank you for your interest, and support along our journey towards a cure for FOXG1 syndrome and more.

-Nasha Fitter