Rafa’s Moonshot:
Landing a Cure
for STXBP1
Turning groundbreaking research and harnessing cutting-edge technologies into real hopes in a fight against rare genetic diseases.
Our story
Journeying to the Moon and Beyond for Raphael’s Future
the genetic puzzle
Understanding STXBP1
STXBP1 is a key gene responsible for the development and function of the brain. It plays a crucial role in how nerve cells (neurons) communicate with each other. Mutations in this gene can disrupt these vital processes, leading to a group of rare, neurodevelopmental conditions collectively known as STXBP1 disorders.
STXBP1 Symptoms
Global Developmental
Delays
Challenges in reaching milestones like sitting, walking, or talking.
Early-Onset
Epilepsy
Seizures, often starting in infancy, vary in type and severity.
Intellectual
Disability
Varying degrees of cognitive impairment.
Movement
Disorders
Challenges with motor skills, including issues with balance and coordination.
Speech
Impairment
Speech impairments or absence of speech.
Behavioral
Challenges
Including potential issues with attention, learning difficulties, and sometimes features of autism.
Pioneering Progress
Our STXBP1 Research Today
the bigger picture
Rare Diseases by the Numbers
7000+
Single-gene rare genetic diseases are known today
400m
People are diagnosed with rare genetic disorders.
95%
Of rare diseases do not have a single FDA-approved drug treatment.
join the mission
Let’s Make a Change Together
Make a Donation
Are you looking to make a meaningful impact in the lives of rare children? Your support will play a pivotal role in advancing science towards breakthroughs in rare genetic diseases, starting with STXBP1.
Initiate a Research
Are you pioneering a unique approach, developing novel methodologies, or advancing cutting-edge technology in the field of rare genetic diseases? Your expertise and innovation are crucial in our journey toward a breakthrough.
Our Research Partners
Recent Articles
December 10, 2025
A Grant to Prof. Illana Gozes: Developing R292C STXBP1 Mouse Model
We are pleased to announce a continuation grant to Prof. Illana Gozes at Tel Aviv University to establish and comprehensively characterize a mouse model harboring the R292C point mutation in STXBP1. This variant is one of the pathogenic heterozygous mutations known to disrupt synaptic vesicle fusion processes and is clinically associated with early-onset epileptic encephalopathy, […]
August 11, 2025
Half a Million Dollars for STXBP1 Research
This year marks a significant milestone in our mission to advance research into STXBP1-related disorders. With over $500,000 in combined funding, we’re powering groundbreaking organoid and rat chimera studies that will deepen our understanding of the disorder and accelerate the path toward effective treatments. A Strategic Grant to Advance Brain Research Earlier this year, Rafa’s […]
June 4, 2024
The Power of Early Diagnosis
In this blog, I will explore the complexities of rare genetic diseases, emphasizing the crucial role of early diagnosis in improving treatment and quality of life. You’ll find personal anecdotes, expert insights, and practical advice on navigating the diagnostic process. Part 1: Our Journey Giving birth to a child with a rare genetic disease brings […]
