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Children's Genetics Research

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NIHR BioResource- Rare Diseases

Who is it for? Patients with a rare disease, and their relatives where relevant. Any age can take part.

There are specific phenotypes (rare diseases) within the study that are being recruited. Information can be found on the website.

Why? The main objective is to create a Biobank of samples whereupon the participant is willing to be called upon to take part in further research studies which may explore new and novel treatments. Next Generation Sequencing Techniques (NGST) will be used to identify the cause of a disease and improve the rate of diagnosis.

To find out more: Contact your Clinical Genetics Consultant, or Clinical Genetics Registrar Dr Corrina Powell, or Research Nurse Ellen Charlton

or take a look at the NIHR BioResource website


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Molecular Genetics of Human Birth Defects

Who is it for? In Leicester we are recruiting children with PCD (Primary Ciliary Dyskinesia)

Why? We are trying to understand the reasons why some children are born with “congenital malformations”. All this means is that when the child was the womb, the body did not build itself correctly, sometimes due to faulty genes.  If a gene gives a faulty instruction this is often referred to as a mutation.  These can run in families, or they may occur “out of the blue”. 

We are now studying a variety of conditions affecting formation of the brain, heart, limbs, kidneys, skin, bones, and immune system.  This should help us understand the problems that happen in patients, and in some circumstances can lead to a diagnostic test (which tells you and the doctor what the disease is), or improved prognosis (which is having an idea about how the disease progresses with time). 

To find out more: contact your respiratory consultant Dr Manjith Narayanan 


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National Study of Nephrotic Syndrome - (NephroS)

Who is it for? Children with Nephrotic Syndrome.
N.B. Adults are also being recruiting at this hospital by the adult Renal Research Team.

Why? Your child’s kidney specialist has made a diagnosis of Nephrotic Syndrome (NS). This can be described as either:

  • Steroid Sensitive Nephrotic Syndrome (SSNS)
  • Steroid Resistant Nephrotic Syndrome (SRNS)
  • Focal Segmental GlomeruloSclerosis (FSGS)    

SSNS is usually a milder disease and most cases respond to steroids, but occasionally it becomes resistant to steroids and is then termed SRNS. The cause of this is rarely known and SRNS/FSGS can be very difficult to treat.  The treatment itself can have side effects and appears to be more effective in some than in others.

For this reason we want to find out:

  • If some patients are likely to develop the disease because of gene mutations. Our genes sit in all the cells of the body and hold the information to develop and maintain the cells. If the programming of the gene is slightly altered this results in a ‘gene mutation’ which can result in a disease. We know that there are some gene mutations which cause NS but we don’t know how often this occurs in the UK.
  • How the disease actually affects the kidney.
  • Whether NS causes a pattern of changes in the kidney cells which is the same in every patient.   
To find out more: contact your Renal Doctor Dr Angela Hall or Dr Sudarsana De, or Research Nurse Jackie Philps 


Or take a look at the NEPHROS website  



Splicing and Disease

Who is it for? Children and adults with a condition that is believed to have a genetic component that may affect gene splicing.

You/ your child may not have had any gene testing so far, or else you/ your child may have had gene testing already, which has either produced negative or unclear results, or results that your clinician feels is the cause of your/ your child’s signs or symptoms but the underlying reasons why this causes signs and symptoms remains unclear.

Why? The aim of this study is to identify new gene faults and to understand which gene faults found during gene sequencing are disease causing. This will be done by looking to see if a gene fault affects splicing of the gene or of other genes. 

Finding which do will help make genetic testing possible for the disorder. This knowledge may eventually help in the management and treatment of these or other illnesses. Our research can also help understand how these genes normally work in the human body and brain.

To find out more: contact Clinical Genetics Consultant Prof Julian Barwell or Research Assistant Judy Maynard-Mills 



Genetics of Human Epilepsy 

Who is it for? Children aged 4-16 years with epilepsy, and their relatives

Why? The purpose of this study is to find the genes influencing the epilepsies of childhood and adolescence. Differences in genes or DNA (our genetic code that is passed down from our parents) explain the colour of our hair and eyes. Differences in our genes can also explain why some people develop certain diseases, like epilepsy, and others do not. We are studying individuals with epilepsy, as well as their relatives, in order to find the genes that underlie these epilepsies. By finding the genes, we hope to develop new tests to help diagnose epilepsy and also to develop cures.

To find out more: contact your  Neurology Doctor or Research Nurse Angeline McCabe  


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There may be other genetics studies, which we haven’t listed here.

Please ask your Doctor about research that may be suitable for you or your child.

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