Hope, Care &
Collaboration
That's how we beat rare genetic disorders like PSMC5 genetic mutations.
Meet Our Experts
The team behind our research
Digging, exploring, research, overarching love for their sons, and some luck brought these two families together. Together, they vowed to promote better quality of life and treatments for their sons.
Research conducted by professionals in top-rated universities
How can we help you?
Do you need help with your child on a rare gene disorder or special needs? We've been through it. We're happy to help you!
We can help guide you.
It’s challenging to raise a child with special needs or rare genetic disorder. Our families have already done the due diligence and navigated through the murky system. We’re happy to share our process and tips. Hopefully, we can point you in the right direction.
Our hope is that you’ll attain:
- Educational guidance
- Disease / Gene path of support
- City / State funding availability
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It's been wonderful to be able to play a major role in this field's development - from a topic that few people thought worthy of study to one which is central to understanding many aspects of cell function.
We are currently working continuously to build awareness around our research. You can get involved with our efforts in the follow ways:
- Volunteer - Join us! Ask us about current internships to get involved.
- Inform us of other children with the PSMC5 gene mutation.
- Are you an expert in the field? Feel free to provide any input.
- Any and all donations and contributions are greatly appreciated and directly put into our research project.
Contribute to our cause
Your donation and support goes directly to our targeted research project to treat PSMC5 gene mutations.
Blog
As parents, we're in this together. Learn about our story. And how we can help others like you.
Update on PSMC5 Foundation, Research, and the Next Event
Update on PSMC5 Foundation, Research, and the Next Event
And now a word from Professor David Rubinsztein
Our PSMC5 foundation’s own, Professor David Rubinsztein wants to share a brief summary about what his laboratory in Cambridge is currently doing. Question: What is
How does the PSMC5 gene actually differ in Ollie and Yoni? Dr. Galen Collins, our Research Fellow, explains.
PSMC5 is one of over 30 genes that together encode for proteins which are built into the 26S proteasome – a group of proteins that
My child has just been diagnosed with autism. Now what?
First of all, don’t freak out. I’m not a numbers guy, but the numbers really speak for themselves in regard to how much credence should
Why is Yoni’s dad blogging about PSMC5, developmental delays, and supporting kids?
Let me first lead into this initial blog by briefly introducing myself. I’m not a doctor. I’m not a scientist. So, there’s my lump sum
