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Hope
Collaboration Cure

Transforming the lives of those affected by rare genetic disease.

Our mission

We raise awareness of rare genetic disorders, 
support those living with them and fund research into combatting these little-understood conditions.

Statistics from the National Organization for Rare Disorders (NORD), EURORDIS – Rare Diseases Europe, Rare Voices Australia

5

years is the average time for a person with a rare disease to get a diagnosis

Drug treatments are often lacking, and those that do exist are often very expensive and difficult to access.

400

million people suffer from a rare disease globally

No individual or family is immune from a rare disease.

75%

of rare diseases affect children, and sadly more than 30% will die before the age of five.

A rare disease is defined as a condition which affects less than 1 in 2,000 people

< 5%

of rare diseases have an effective treatment

Rare diseases not only affect the person diagnosed – they also impact families, friends, care takers and society as a whole.

80%

of rare diseases have an identified genetic origin

What is a rare genetic disease?

A rare genetic disorder is a health condition caused by a change in a person’s DNA, affecting fewer than 1 in 2000 people.

Step of 3

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Each of us has a unique DNA profile. Sometimes, a person may have one or two faulty individual genes. These faulty genes often go unnoticed because they don’t change the way our bodies work.

Step 1 of 3

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People with a rare genetic disorder have a faulty gene or genes that change the way their body works for the worse. This has a devastating impact on how they live their lives.

Step 2 of 3

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Rare genetic diseases are present from birth. This means they disproportionately affect children. Many of these children do not reach adulthood because of their conditions.

Research into rare diseases is not always feasible. This can mean families of those with rare genetic diseases feel isolated and lack support from those with similar experiences.

Step 3 of 3

Our process

Our current priority is to find ways to correct the genetic errors that cause rare, serious immune disorders in children.

Starting with SAVI.

Where we are now

We know that a cure is possible and can be achieved with your support. This is our pathway to a cure.

Read more
1 Basic scientific research
This stage focuses on identifying the genetic basis of the disease. In the case of SAVI, scientists have identified the faulty gene.
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2 Drug discovery phase
Scientists identify and evaluate potential drug treatments to treat SAVI and SAVI symptoms.
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3 Pre-clinical research
Drugs and therapies are lab-tested before being tested on humans. This ensures potential interventions are safe and promising enough to proceed with clinical trials.
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4 Clinical research
New treatments are tested in clinical trials. There are four phases; these test safety, effectiveness, side effects and long-term effects.
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Blue boxes showSAVI treatment approaches and pink boxes CRISPR gene-editing development

STING-associated vasculopathy with onset in infancy (SAVI)

Human genome engineering with CRISPR/Cas9

Mali P et al., 2013 & Cong L et al., 2013 Science 339:823–6

First report of SAVI

Liu et al., 2014 N Engl J Med 371:507–18

JAK 1/2 inhibition with baricitinib

Sanchez et al., 2018 J Clin Invest 128:3041–52

CRISPR editing of pathogenic variants

Shen MW et al., 2018 Nature 563:646–51

STING structure and inhibitors with reduced immunosuppression

Ergun et al., 2019 Cell 178:290–301

In vivo CRISPR editing using adeno-associated virus vectors

Wang et al., 2020 Cell 181:136–50

CRISPR gene editing for sickle cell disease and β-thalassaemia

Frangoul et al., 2021 N Eng J Med 384:252–60

Small molecule inhibitors of STING oligomerisation

Humphries et al., 2023 PNAS 120:e2305420120

Treatment of SAVI with anifrolumab

Mansilla-Polo et al., 2024 JAMA Dermat 160:899; Kretzschmar et al., 2024 J Clin Immunol 45:31

STING mutation & targeting in the lungs

Gao et al., 2024 Cell Reports 43:114114; Haley et al., 2025 ACS Nano 19:1390–13804

Liposome-delivered CRISPR gene-editing to treat hereditary angioedema

Cohn et al., 2025 N Eng J Med 392:458–67

Cure – exciting novel treatments

Human Stem Cell Genome Editing (pre-print): Pavel-Dinu et al., 2024 Research Square

STING-targeting PROTACs: Jiang et al., 2025 Front Immunol. 16:1631132.

Question

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Question

So what are we doing to achieve our mission?

 

 

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Action 1 of 4

We are

Sharing

We are developing a comprehensive range of patient support services. This includes a patient forum, peer support groups, and a central library of important information.

We are encouraging patients and their families 
to share their experiences with the wider community.

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Action 2 of 4

We are

Connecting

Over time, we want FORGE to make a significant contribution towards delivering medical research advances. We want to do this as efficiently as possible and prevent work from
being duplicated.

In these early stages, we are networking to make as many contacts as possible in research, medical and humanitarian fields.

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Action 3 of 4

We are

Researching

Our first goal is to develop curative therapies for SAVI, helping us understand potential cures for all rare genetic diseases.

Our research work focuses on repurposing existing drugs and regenerative therapies. The research into SAVI can be applied more broadly to help address other, more common conditions.

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Action 4 of 4

We are

Fundraising

Every penny we raise helps fund world-leading research to find a new treatment for these conditions, support patient groups with a range of empowering services, and raise public awareness of rare genetic diseases.

How we can help you?

Guidance & Support

My child or I have been diagnosed with a rare genetic disease

Research

I am a researcher or medical professional that can help

Volunteering

I would like to learn more about how to help along the pathway.

Where we need you

Every donation helps us create a future where rare genetic disorders are understood and fully treatable. 

Every gift of time supports us along our pathway to a cure.

Get Involved
Donate