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

 

Help Our Cause -Your support and contributions will directly affect our ability to fund the research and deliver cures.

Help Our Cause -Your support and contributions will directly affect our ability to fund the research and deliver cures.

Help Our Cause -Your support and contributions will directly affect our ability to fund the research and deliver cures.