Patient

We are looking to recruit patients with defects in DNA repair, or who have been exposed to chemicals that damage DNA. We would like to study your DNA to identify mutations that have built up in your cells. We hope that this will help us to understand how and why the mutations cause health problems like cancer, brain diseases and aging.

If you think that you might be suitable and would be interested in joining INSIGNIA, please use the links below to find out more about the study and what it involves.

Can I Take Part In This Study?

We are looking for patients who have defects in genes associated with DNA repair or replication pathways.

A number of syndromes are associated with such defects, including:

  • Ataxia Telangiectasia
  • Bloom Syndrome
  • Cockayne Syndrome
  • Fanconi Anaemia
  • Nijmegen Breakage Syndrome
  • Rothmund-Thomson Syndrome
  • Seckel Syndrome
  • Severe Combined Immunodeficiency (SCID)
  • Werner Syndrome
  • Xeroderma pigmentosum

If you or your child suffer from a DNA repair/replication disorder that is not listed above or your clinician suspects that you or your child suffer from a similar genetic defect, then you may still be eligible to participate.

We are also looking for patients who have been exposed to chemicals that change the genetic material (DNA). Exposure to these chemicals may have occurred during adulthood or childhood, or even before you were born, within your mother's womb.

Please refer to the 'How Do I Get Involved?' section for more details.

What Is The Benefit Of Taking Part?

While the study will not benefit you or your child directly, we hope that it will permit greater understanding of how a person's genetic makeup causes the symptoms of the conditions we are studying.

This may not lead directly to new treatments, but will be a crucial step towards it.

How Do I Get Involved?

If you have already been invited to join INSIGNIA, please speak to your geneticist about participating.

If you are interested in participating in INSIGNIA, but have not been invited, please speak to your geneticist to confirm eligibility and find out whether your local clinical genetics service is participating in INSIGNIA. Alternatively, please speak to your GP to discuss a referral to your local clinical genetics service.

Please note that we are currently only recruiting patients through UK NHS clinical genetics services and it is not possible to join the study via any other route.

For details of clinical genetics services currently participating in INSIGNIA please go to NHS Sites.

What Happens In The Study?

To me:

  • Your clinical geneticist will confirm that you are eligible to participate in the study and will discuss the study with you to make sure that you understand everything.
  • You will be given plenty of time to consider whether you wish to participate in the study, and will be provided with participant information sheets to take away with you.
  • If you decide to take part you will be asked to sign a consent form.
  • At a time that is convenient for you, we will arrange for a doctor or nurse to take 2 blood samples from you. On rare occasions we may need to take a skin or saliva (spit) sample from you.
  • We will also record any relevant health details in a password-protected database.
  • This information will only be accessible to study members. No information that could identify you will be shared with researchers outside of the study team.

To the samples taken:

  • The blood (or skin/saliva) samples will be assigned an anonymous code and sent to researchers at the Wellcome Trust Sanger Institute in Hinxton, Cambridge, UK.
  • Researchers there will make them into special cells (stem cells) that can grow indefinitely.
  • The special stem cells will be stored and may be used by other researchers.
  • No one will know that these cells came from you; only your age at the time the blood sample was taken, whether you are male or female, and details of the genetic defect/disorder you suffer from will be linked to the cells.
  • Researchers will also look for any patterns in the DNA of the cells that are made.
  • The results from the study will be published in scientific journals and/or presented at scientific meetings.
  • The results will be completely anonymous, and no one outside the study team will be able to trace the results to you.

Further Information

For information on the funding and ethical review of INSIGNIA, or for useful links to other websites please go to Further Information.

Participant information sheets and consent forms can also be found under Further Information.

If you would like to discuss participating in INSIGNIA or have any additional questions please go to Contacts to find out how to get in touch with us.

 

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