Together We Can Cure Single-gene Disorders
Moonshot: An ambitious and innovative project
Unicorn: A magical and unique being
Together We Can Cure Single-gene Disorders
Moonshot: An ambitious and innovative project Unicorn:
A magical and unique being
Together We Can Cure Single-gene Disorders
Moonshot: An ambitious and innovative project
Unicorn: A magical and unique being
Our Mission
Cure Single-gene Disorders. Let’s meet the real Lucy.
This is Lucy. She is missing one single gene called PGAP3. Without that gene, her cells don’t communicate well and her body and mind will not develop normally. We know that other children with PGAP3 never speak, develop severe intellectual disability, and often start to have severe, untreatable seizures in early childhood. However, this doesn’t have to be Lucy’s story; her cure can exist. But we have to work quickly in order to develop it in a timeframe that gives Lucy a shot at a normal life.
Our Mission
Cure Single-gene Disorders.
This is Lucy. She is missing one single gene called PGAP3. Without that gene, her cells don’t communicate well and her body and mind will not develop normally. We know that other children with PGAP3 never speak, develop severe intellectual disability, and often start to have severe, untreatable seizures in early childhood. However, this doesn’t have to be Lucy’s story; her cure can exist. But we have to work quickly in order to develop it in a timeframe that gives Lucy a shot at speech, stability, and a life without seizures.
What would you do if you were told your child had a disease with no treatment and no cure?
You’d say let’s make one.
Our Mission
Cure Single-gene Disorders. Let’s meet the real Lucy.
This is Lucy. She is missing one single gene called PGAP3. Without that gene, her cells don’t communicate well and her body and mind will not develop normally. We know that other children with PGAP3 never speak, develop severe intellectual disability, and often start to have severe, untreatable seizures in early childhood. However, this doesn’t have to be Lucy’s story; her cure can exist. But we have to work quickly in order to develop it in a timeframe that gives Lucy a shot at a normal life.
Lucy’s Story
What is PGAP3?
PGAP3 is expressed in every cell in the body. When it's faulty, children can experience symptoms in many body systems. Almost all children with PGAP3 have low muscle tone and intellectual disability, and they lack expressive speech.
Symptoms of PGAP3-CDG
Lack of verbal speech
Severe intellectual disability
Hypotonia
Difficulty walking
Refractory (or untreatable) seizures
Difficulty Sleeping
Vision problems
Gastroesophageal reflux
Feeding difficulties
Constipation
What is PGAP3?
PGAP3 is expressed in every cell in the body. When it's faulty, children can experience symptoms in many body systems. Almost all children with PGAP3 have low muscle tone and intellectual disability, and they lack expressive speech.
Common Symptoms of PGAP3-CDG
Hypotonia
Severe intellectual disability
Difficulty or inability to walk
Refractory (or untreatable) seizures
What is PGAP3?
PGAP3 is expressed in every cell in the body. When it's faulty, children can experience symptoms in many body systems. Almost all children with PGAP3 have low muscle tone and intellectual disability, and they lack expressive speech.
Common Symptoms of PGAP3-CDG
Increased risk blood clots
Developmental delays
Cognitive impairment
Low muscle tone
Ataxia/poor balance
Congenital heart defects
Seizures
Speech problems
Vision problems
Gastroesophageal reflux
Constipation
Feeding difficulties
The Bigger Picture
10,000
Disorders known to be caused by a mutation in a single gene
1%
Percent of the population affected by single-gene disorders
$2-5M
Current cost of research and development for each genetic disorder