A research study investigating the molecular mechanisms of rare genetic disorders.

Description

Our research seeks to gain insights into what genetic changes are responsible for inherited disorders and why the mutation(s) identified cause disease. Some of these genetic conditions are recessive, which means that a couple can pass on mutations to their children, which do not affect the couple themselves. Other genetic conditions are dominant, which means that the mutation has been passed on from only one parent, who may also have the condition or the mutation may have occurred in the affected individual by chance, due to a mistake in the DNA copying process. The identification of the genetic basis for a disorder provides two major benefits. Firstly, accurate genetic testing becomes possible, with improvements in diagnosis and genetic counselling. Secondly, important and often unexpected scientific insights are made into the disease mechanism of the disorder and into the normal function of the disease gene, which can lead to new treatments. In order to understand these rare disorders, we are working with families and their clinicians to take part in gene identification and to research the function of the encoded protein.

If you, a family member or NHS staff and are interested in recruiting someone to our study, please see the respective sections below.

Key Documents

for further project details and documents please see this research groups downloads page.

Patient information

About our research project

Thank you for your interest in our research project. We hope that the information below helps explain what research we do and how you could help.

WHAT DO WE WANT TO DO?

We are studying the inherited factors (genes) involved in conditions that can be passed on through families. Some genetic conditions are recessive, which means that a couple can pass on mutations to their children, which do not affect the couple themselves. Other genetic conditions are dominant, which means that the mutation has been passed on from only one parent, who may also have the condition. In some cases the gene causing the condition isn’t known and the aim of this study is to do research to find these faulty genes. This could lead to a better understanding of the condition.

WHY ARE WE ASKING FOR YOUR HELP?

Our research study is interested in individuals or their relatives with a genetic condition but the genetic cause still isn’t known. As many of these conditions are very rare, we are seeking your help so that we can look at the genes of many families with exactly the same condition. It is up to you to decide whether or not to take part. If you do not wish to take part in the study this will not affect you or your family’s medical care in any way.

WHAT WILL WE BE ASKING YOU TO DO?

When you are satisfied you have all the information you require and if you decide to take part, we will ask you to read and complete a consent form. The form will ask your permission for an extra blood test on yourself, your partner and any of your children, where necessary. We may also ask for other types of samples, such as a saliva sample, in addition or instead of a blood sample. We will ask some questions about your medical and family history, and we may also ask your permission to look at your medical records. You will be given a copy of this information sheet and your signed consent form to keep.

Are there any possible disadvantages to taking part in the study?

We do not think that taking part in this study will harm you in any way. We will be gathering information which is already routinely collected by health professionals. If at any point you would like to discuss the study and your involvement in it, you will be able to speak to a researcher. Contact details are provided below.

WILL THIS PROJECT BENEFIT MY FAMILY?

There are no immediate short term advantages to taking part in this study. We cannot guarantee to discover anything that will directly benefit you, your family or your relatives. However, if we do find the faulty gene causing the condition in you and your family then tests may be available for your relatives to find out if they are at risk of having children with the condition. We also hope that studying the causes of genetic conditions will help to discover the reasons why these conditions occur. By increasing understanding in this way we may, in the long term, be able to offer better help to children and their families.

For further information, please contact Dr James Poulter, at the University of Leeds.

To download a patient information sheet and consent form, please go to our downloads page.

Staff information

Study information for NHS staff

Thank you for your interest in our research study. If you are interested in recruiting an individual to our study, you can download the Patient Information Sheets, Consent Forms and any other related documents from here.

Eligibility for recruitment

We are interested in recruiting families with any rare genetic disorder. There are no restrictions on the mode of inheritance, however, we do ask that any available diagnostic testing has been undertaken. 

We have particular interests in disorders of neurodevelopment (e.g. macrocephaly, cortical dysplasia’s, microcephaly), neuromuscular disorders, ciliopathies and novel, undiagnosed disorders.

We are also interested in families with an autosomal recessive mode of inheritance in whom genetic testing has identified a single heterozygous mutation in a likely disease gene but no second mutation could be found.

Further information

For further information, please contact Dr James Poulter, at the University of Leeds.