We are so proud of our community for participating in our second CHAMP1 Family and Science Engagement Conference Oct 21st-23rd.

It was amazing to see our community together along side scientists and partners. We received updates on how research is moving forward. It was essential to fulfill our community with hope. 

Thank you to all families who attended, the ones who traveled alone, and those who watched the Livestream. We know how hard it can be to travel with our CHAMP1ONS, it’s challenging and pushes their limits, so we want to thank all families who attended with their CHAMP1ONS. 

We want to thank you @thisbeandnoahscottfoundation for supporting us with grants for families to attend our conference. 

We're a community, and we're together. 

We'll keep searching for a cure or treatment for CHAMP1. 

Summary
1) CHAMP1 plays a role in neuronal development,
2) CHAMP1 mutations probably cause haploinsufficiency, although dominant-negative effect cannot be excluded 
3) CHAMP1 functions in the repair of DNA double-strand breaks.
 

Next Steps:

We have to continue the study on the role of CHAMP1 in neuronal development. We know little about CHAMP1 in this regard compared to other genes related to neurodevelopmental disorders.

We also have to clarify the effects of CHAMP1 mutations that can explain the difference in the severity of the symptoms between individuals.

As a therapeutic approach, besides pursuing CHAMP1 and POGZ, it is also important to keep an eye on the research progress on other genes related to neurodevelopmental disorders. Although there are so many genes involved, they may converge into common pathways that can be therapeutic targets.

Check the slides here.

1. Dr Stefano is an experimental genomicist working on neurodevelopmental disorders as Autism and monogenic rare disorders
2. he worked with other neurodevelopmental disorders such as FOXP1 syndrome and MEF2C syndrome. I currently part of the MEF2C syndrome foundation with Dr. Christopher Cowan.
3. His  lab uses human in-vitro models, e.g. iPSC-derived neurons and organoids, to study neurodevelopment. He'll  focus on the prenatal critical window of the brain development where neurogenesis and neuronal migration happen. His interests on brain development and CHAMP1 comes from the fact that CHAMP1 is highly expressed prenatally and it’s important for mitosis, a type of cell divisions in which one cell divides into two new cells.