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Enrolling by invitationOBSERVATIONAL

Investigating the Role of Genetics in Disease Predisposition

This research aims to understand how small changes in our genes, which can happen when sperm and eggs are made, might lead to health problems like cancer or rare diseases in future children. Our bodies constantly make new cells, and sometimes tiny mistakes, called mutations, occur in our DNA. While many of these are not passed on, this study focuses on those that happen in sperm and egg cells. Researchers want to find out how these changes happen, how they're passed from parents to children, and what impact they have on a child's health. The goal is to get a clearer picture of how these genetic changes contribute to a child's risk of developing certain illnesses.

At a glance

Status
Enrolling by invitation
Sponsor
The Wellcome Sanger Institute
Enrolment target
1,000
Start
20 Jun 2021
Estimated completion
01 Mar 2027

What is this study about?

When our bodies create sperm and eggs, they go through a special process. During this process, or even throughout our lives, tiny changes can happen to our DNA, which are like the instruction manual for our bodies. These changes are called 'mutations'. Most of the time, these mutations don't cause any problems or aren't passed on. However, if these changes happen in the sperm or egg cells themselves, there's a chance they could be passed down to our children.

Currently, we don't fully understand why these changes happen in sperm and eggs, or how they might increase a child's risk of developing certain diseases, including some rare conditions and cancers. Doctors often learn about these changes by comparing the DNA in the blood of children with the DNA of their parents. This can show if a change in a child's DNA wasn't present in their parents' blood, meaning it likely came from a change in a parent's sperm or egg.

This study wants to look directly at the genetic make-up of reproductive tissues (where sperm and eggs are made). They aim to get a much more detailed understanding of these changes. They also want to explore whether things like getting older, smoking, body weight, or being exposed to certain chemicals might affect these changes in sperm and eggs. By understanding this better, we can hopefully learn more about how certain diseases might be passed on to future generations and how to potentially prevent them.

Key takeaways

  • The study explores how changes in sperm and eggs can affect children's health.
  • It aims to understand why some children are more likely to get certain diseases like cancer.
  • Researchers are looking at genetic changes in sperm and egg-making tissues.
  • Factors like age, smoking, and lifestyle might influence these genetic changes.
  • The goal is to improve our understanding of inherited health risks for future generations.

Who may be eligible?

This study is looking for families to take part. This includes children who have a condition that makes them more likely to get cancer, along with their fathers. They would also like to include other family members of these children and fathers, such as the child's mother, brothers or sisters who have the same two parents, and grandparents, aunts, and uncles on both sides of the family.

The study also needs tissue samples from people, both men and women, who have or don't have cancer. These samples would come from reproductive organs and would only be used if they've given their clear permission.

There are some reasons why people might not be able to join. For example, fathers who don't want to or can't provide a semen sample, or those who have had a vasectomy, wouldn't be able to participate. Also, adults who can't understand or agree to take part themselves, or families where neither parent can give permission for their child, wouldn't be included. Siblings can only join if they share both parents with the child who has the increased cancer risk. Finally, participants need to have a good understanding of English.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

  1. Do you have a child who has a condition that increases their risk of cancer?
  2. Are you the child's father?
  3. Are you able to provide a semen sample?
  4. Do you have a good understanding of English?
  5. Are you able to agree to take part in the study yourself?
Answer every question to see your result.

What does participation involve?

If you decide to take part, the researchers will collect samples from you. This will involve collecting a semen sample (if you are a male participant) and potentially blood or saliva samples from you and other family members as part of the study. For some, if you've already had surgery for certain conditions, the researchers might ask for your permission to use any leftover reproductive tissue samples for this study. The exact tests and number of visits will depend on your specific situation and what samples are needed for the research. The total duration of your participation would be discussed with you by the research team.

Potential risks and benefits

Taking part in this study could help us learn more about how genetic changes are passed on and contribute to diseases like cancer, potentially leading to better understanding and possibly treatments in the future. The risks of participating are generally low, mainly related to giving samples like blood or semen. These procedures are usually safe but can have minor, temporary discomforts such as bruising or slight pain. Remember, you can choose to withdraw from the study at any time without giving a reason, and it will not affect your medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.
  • Wellcome Sanger Institute
    Verified postcode
    Cambridge, United Kingdom

Common questions

What are 'mutations'?

Mutations are small changes or 'typos' in our DNA, which is our body's instruction manual. Some are harmless, but others can affect our health.

What does 'hereditary' mean in this study?

'Hereditary' means something that can be passed down from parents to their children through genes.

Why are they studying sperm and eggs?

Sperm and eggs are the cells that create a new life, so any genetic changes in them can be passed on to a child.

Will this study tell me if my child will definitely get cancer?

No, this study is about understanding general risks and how changes happen. It won't give you a personal diagnosis or prediction for your child.

Is my personal information kept private?

Yes, all your information collected for the study will be kept confidential and your privacy protected.

How to find out more

Always speak to your GP or specialist before deciding to take part in a study.

Interested in taking part?

Register your interest

Share your details and the research team for "Investigating the Role of Genetics in Disease Predisposition…" will contact you if you may be eligible. Always speak to your GP before agreeing to take part.

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