By Brenda Conger
This year’s Global Genes Summit in California was a two- day event partnering with rare disease patients, caregivers, advocacy organization leaders, industry professionals and experts within the rare disease field.
This was my 3rd year in attendance and this summit held on September 24-25th was by far the most inspiring conference I have attended. The Global Genes Team members were all engaged with each and every one of us. I felt their commitment when I had conversations with team members and also noted their leadership roles in pulling together to host this huge event. The Summit was attended by over 500 participants. I came away from this Summit feeling connected, empowered and totally energized to continue to bring hope to our CFC families. I was so pleased to see that there were many new advocacy leaders in attendance this year as well.
As CFC International moves forward with the end goal of future treatments for our children, here is what I learned at Global Genes. We must keep the end goal always in sight. In order to obtain treatments, we must develop a Natural History (natural course of the syndrome.) This will detail the progression of the syndrome from birth to adult years and even death. We must get all our families engaged in the reporting. Without an engaged patient and research community, nothing will move forward with potential drug trials.
The inspiring speech at the end of the summit on day one also brought me so much hope for future generations. The most important data is your family medical history. It really does matter! There is hope everywhere as we look to our past – so many conditions in our lifetimes were fatal and now have treatments. There is an amazing explosion in the field of molecular genetics and also so many groups of people who can make a difference in generating dollars spent for research. We now have the ability to sequence the whole genome at a low cost of around $1,000 and some insurance companies are covering this testing since we all know that prevention is so much cheaper than dealing with expensive treatments.
We can take cells from patients and create more cells and then try out drugs to see how effective treatments will be. The future will be early detection and prevention of diseases along with precision medicine (how to turn a gene on and off.)
Today we have over 7,000 rare diseases but only 5 percent have a treatment. I hope in my heart that everything I learned at the Global Genes Conference will result in many, many treatments and gene therapy so that our future generations can live healthier, longer and productive lives. Thank you Global Genes for bringing hope to so many.
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