Finding answers, building hope
As a Googler, I have the privilege to be surrounded by the most advanced and magical technology every day. And yet I never imagined I’d one day be trying to use this technology to help try and save my son Max’s life, and that of other children and adults like him.
In 2023, Max was diagnosed with Alexander disease (AxD) — a rare, and fatal, neurodegenerative disease. The diagnosis turned our world upside down. We were told there is no treatment or cure, and that while the exact progression of the disease was uncertain, the outcome was not.
From one day to the other, we were navigating a complex landscape of medical terminology. Like many parents in this situation, I just wanted to understand. I needed to understand what was happening to my son, what the science behind AxD was and what we could do.
The challenge was that the science felt incredibly inaccessible. The research papers were dense, filled with words I didn’t understand. I felt lost, overwhelmed and desperate for clarity.
That’s where Gemini became my ally. It allowed me to say “Explain this so someone with high school biology knowledge could understand.” Because that’s who I was.
I used Gemini’s PDF upload feature to get summaries of complex research papers.
I could input these complex research papers, genetic explanations and medical articles, and Gemini would break them down for me in a way I could grasp. It was like having a personalized science tutor, available whenever I needed it. Which was important because even Dr. Albee Messing, the kindest and most patient Alexander disease scientist, at the Waisman Center, University of Wisconsin-Madison, couldn’t possibly answer every question I have and bring me up to speed on neurobiology. But Gemini helped me learn not just the terminology, but the concepts behind it.
This newfound understanding was transformative. It wasn’t just about absorbing information anymore; it was about connecting the dots. With Gemini’s help, I began to see the relationships between different research areas, and how they might be applied to Alexander disease.
Say you have a paper about a cell therapy that seems to address “senescence,” or aging, and a paper specifically about “senescence in AxD.” Could one be relevant to the other?
Armed with a clearer understanding of the science, I could formulate more pointed questions for researchers. So I emailed them. And, remarkably, scientists responded. What started with a few emails and phone calls evolved into world-class scientists who had never even heard of Alexander disease applying their unique expertise to it in novel ways that may, potentially, lead to treatments. There are now 11 research groups (professors or their labs) that have done work or are doing work on AxD that had not before.
Dr. Amy Waldman of Children’s Hospital of Philadelphia is one of the foremost Alexander disease doctors in the country. She is working to bring new clinical treatments to AxD patients like Max.
Professor Corina Amor’s main focus is on aging and senescence at Cold Spring Harbor Laboratory. She was one of the first researchers I connected with.
At Duke, Pranam Chatterjee, Assistant Professor of Biomechanical Engineering, is using AI to help develop peptide-guided protein therapeutics for AxD.
I’m still no doctor or biologist, but I’m honored to now serve on the board of End AxD, join scientific conferences and raise funds to enable scientific testing of highly promising research on AxD. Me — a dad who simply wanted to understand what was happening to their child.
Our family’s journey with AxD has been challenging, but it’s also been a journey of hope. I turned to technology and found a bridge to connect with the scientific community, a group of people I will forever be grateful for and in awe of.
And beyond more “everyday” uses, AI has incredible potential to revolutionize medicine, genetics, biology and drug discovery. Google DeepMind's AlphaFold, created in partnership with Isomorphic Labs, could help scientists develop new drugs and treatments through understanding and predicting how proteins fold. Isomorphic Labs is pushing forward into new therapeutic research by developing cutting-edge computational and AI methods to accelerate the drug discovery process, which could lead to biomedical breakthroughs and treatments for devastating diseases. In addition, Google recently introduced an AI co-scientist to help accelerate scientific discoveries and find cures, including for rare diseases like AxD. These tools will allow scientists to make faster breakthroughs — particularly in the thousands of rare diseases for which there's limited attention and funding.
I’m grateful for the many scientists working to help families like mine and glad that Gemini empowered me to play a productive role in advancing research. I hope that it can do the same for more people.
To support breakthrough research on treatments of Alexander disease, visit EndAxD.org
Find out more about Leukodystrophies, the group of diseases that Alexander disease belongs to, at ULF.org.
Find out more about the science of Alexander disease at the Waisman Center’s Alexander Disease Lab.
Acknowledgments:
A special thanks to: Dr. Amy Waldman, Neurologist at Children’s Hospital of Philadelphia, Dr. Corina Amor, Ph.D., Assistant Professor at Cold Spring Harbor Laboratory and the Amor Lab team, Pranam Chatterjee, Ph.D., Assistant Professor of Biomedical Engineering at Duke University, Albee Messing, V.M.D., Ph.D., Professor Emeritus of Neuropathology in the Department of Comparative Biosciences and all the doctors, scientists and researchers working tirelessly to find a cure.
