Genetic Disorders Research

Lilly and Prevail Therapeutics, a wholly owned subsidiary of Eli Lilly and Company, want to develop and make gene therapies to meet the needs of people living with genetic conditions. Through clinical research we are looking to find out if investigational genetic medicines may help people with genetic disorders such as:

Gaucher disease (type 1 & 2)
Parkinson’s disease with a GBA1 gene mutation
Frontotemporal dementia with a progranulin (GRN) gene mutation

By taking part in a clinical research study, you can help to make a difference. Click here to view clinical trials for neurological disorders.

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About Our Research

Global Impact

We want to make life better for the millions of people around the world living with rare diseases and genetic disorders and all those who care for them.
We carry out clinical research in many different countries to make new medicines for people living with these conditions.

We want to make life better for the millions of people around the world living with rare and genetic disorders and all those who care for them.
We carry out clinical research in many different countries to make new medicines for people living with these conditions.

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Lilly’s Commitment to Research

Lilly is working to find new treatment options for people living with genetic disorders that have urgent unmet therapeutic needs.
We are proud of the work we do using a precision medicine approach to help people living with these conditions.

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Advancing Science Together

Making new medicines is only possible with the help of people in our community. This involves clinical trial participants, doctors, researchers, care partners and advocates. Together, we work to improve care for all people living with a genetic disorder.

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Genetic Disorders Research Areas

Genetic disorders, also known as genetic conditions, are often inherited (passed down from parents) but some genetic disorders can happen by chance to people without any family history. They can be difficult to treat, and for many of these conditions there is no cure available right now. Gene therapy is a type of precision medicine and uses ‘normal’ genes to replace a missing or abnormal gene. This can help treat or prevent disease. Clinical research helps us find ways to potentially prevent, better manage, and develop treatments for genetic disorders.
To learn more about the genetic disorders clinical research studies we are currently running, visit our neurological disorders page. You can also find links to clinical trials by clicking or tapping on the conditions below.

Frontotemporal Dementia (FTD)

There are ongoing clinical research studies for frontotemporal dementia (FTD) which use gene therapy. Some of these studies are looking at a specific type of FTD called, FTD-GRN, which gets its name due to a change in the GRN gene.
Most people carry two normal copies of the GRN gene. People living with FTD-GRN have mutations or changes in one of their GRN genes.
The abnormal GRN gene causes them to produce about half as much of a protein called progranulin when compared to healthy people. The reduced progranulin levels lead to problems with lysosomes. Lysosomes are found in cells throughout the body and usually help break down and recycle materials. When lysosomes do not function properly, like in FTD, waste products can build up. This can cause inflammation in the brain and neurodegeneration (brain cell loss).
View frontotemporal dementia clinical trials.

Parkinson’s Disease (PD)

There are many ongoing clinical research studies for Parkinson’s disease (PD). Some of these are using gene therapy and looking at a type of Parkinson’s disease that is linked to a mutation or change in the GBA1 gene. This type of Parkinson’s disease is called PD-GBA.
Abnormal GBA1 genes lead to problems with lysosomes. Lysosomes are found in cells throughout the body and usually help break down and recycle materials. When lysosomes do not function properly, like in PD-GBA, waste products can build up. This can cause inflammation in the brain and neurodegeneration (brain cell loss). People with abnormal GBA1 genes can develop Parkinson’s disease earlier, experience severe symptoms, and have a higher chance of developing dementia. You can learn more about gene therapy research for Parkinson’s disease on the American Society of Gene & Cell Therapy website.
View Parkinson’s disease clinical trials.

Gaucher Disease (GD)

Some clinical research studies for Gaucher disease are using gene therapy. Gaucher Disease is a ‘lysosomal storage disorder’. Lysosomes are found in cells throughout the body. They usually help break down and recycle materials, but when they do not function properly, like in Gaucher disease, waste products can build up.
Gaucher disease is caused by mutations or changes in the GBA1 gene. This can cause organ damage and symptoms in different parts of the body.

At Lilly, we are mainly researching:

type 1 Gaucher disease which is seen in children and adults and can be mild or severe. Type 1 Gaucher disease (GD1) can cause many symptoms. These include spleen and liver enlargement, low blood counts, issues with bruising, bleeding, bone damage, bone pain and severe fatigue.
type 2 Gaucher disease which is a severe form of the disease and affects babies. This type of Gaucher disease is also called ‘acute infantile neuronopathic Gaucher disease’. It can have a significant impact on the brain and nervous system. It can also cause seizures, difficulty feeding, difficulty breathing, problems with vision and increased muscle tone, also known as spasticity.
View Gaucher disease clinical trials.

Learning Center

Gene Therapy and Clinical Trials

In this blog we discuss genetic medicine and clinical trials using gene therapy for those living with difficult to treat conditions including Parkinson's disease, frontotemporal dementia and Gaucher disease. Learn more about gene therapy and clinical trials in this blog.

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Parkinson’s Disease and Clinical Trials

In this blog you can read about Parkinson's disease and gene-therapy clinical trials. You can also access links to patient organizations and advocacy groups. Read the blog and learn more about Parkinson’s research and patient support.

Genes are Nature’s Building Blocks

Leah, a young person living with ALS, talks about her journey with the condition and her hopes for the future. Lilly researchers also discuss recent discoveries in the area of gene therapy. Watch the video to learn about Leah's story and the hope she has for genetic medicines.

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Prevail Therapeutics and Gene Therapy Research

Prevail Therapeutics aims to advance potential one-time gene therapies for people living with Parkinson’s, Frontotemporal dementia and Gaucher disease (type 1 & 2). Learn more about this research on the Prevail website.

Lilly Cambridge

Genetic medicines may help those living with conditions that are difficult to treat. Learn about gene therapy research, how genetic therapies might be used, and our future plans at this Lilly Cambridge research site.

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Debunking Misconceptions About Genetic Medicines

Andrew Adams, PhD is the senior vice president of Genetic Medicines and Neurodegeneration Research. In this Q&A he explains some of the most common misunderstandings about genetic medicines and talks about their potential benefits. Visit this page and learn more about genetic medicines.

Genetic Disorders Research

About Our Research

Global Impact

Lilly’s Commitment to Research

Advancing Science Together

Genetic Disorders Research Areas

Lilly Trial Connect

Learning Center

Gene Therapy and Clinical Trials

Parkinson’s Disease and Clinical Trials

Genes are Nature’s Building Blocks

Prevail Therapeutics and Gene Therapy Research

Lilly Cambridge

Debunking Misconceptions About Genetic Medicines

Lilly Trial Alerts

Neurological Disorders Research

Find a Lilly Trial

Genetic Disorders Research

About Our Research

Genetic Disorders Research Areas

Lilly Trial Connect

Learning Center

Lilly Trial Alerts

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