Public and Patient Involvement Event (13th July 2011)
Report on Public and Patient Involvement Event published in CLIMB newsletter bq.
Event Leaflet
SJT Events
6 October 2011
11 August 2011
Article on Sir Jules Thorn Research project in Genetic Alliance UK, spring 2011 newsletter. pg 8. Genetic Alliance UK news letter
8 August 2011
A resource for young people, adults and families affected by recessive inherited genetic conditions
Support Groups
Ciliopathies
Ciliary dysfunction is an underlying cause for a number of chronically disabling and life threatening genetic conditions. Dysfunctional cilia can affect multiple systems causing blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity and diabetes.
Please visit Ciliopathy Alliance for more information on ciliopathies and support groups
Joubert syndrome
Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and co-ordination. The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem.
The most common features of the disorder include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia.Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur.
Please visit Support group for Jourbert Syndrome in UK
Retinitis pigmentosa
Retinitis pigmentosa (RP) is a disease of the eye that leads to loss of vision and blindness.
Please visit Support group for RP in UK
National Charities
Genetic Alliance UK, Rare Disease UK,
CLIMB-National Information Centre for Metabolic Diseases
Support for Families of Children with Undiagnosed Genetic Conditions- Syndromes without a name (SWAN UK)
SWAN UK
Unlocking the code of severe recessive inherited diseases
4 May 2011
Research Project funded by Sir Jules Thorn Charitable Trust
Patients and families struggling with the daily reality of living with a rare condition frequently experience problems in getting a diagnosis and in accessing appropriate services. Sometimes the condition may be so rare or previously unknown to doctors that it doesn’t have a name or even a known cause.
However, very recent advances in medical research and technology now make it possible to find the cause of inherited conditions much more easily than in the past. Scientists and doctors are optimistic about the future advances in healthcare, which include improved diagnosis.
Understanding genes: the unit of inheritance
Genes are like an instruction manual containing all the directions required for a living organism to grow and function normally. Genes are passed on from parents to their children. A child inherits one copy of a gene from their mother and one from their father. The entire set of genes determines the fundamental traits of the child that are inherited from the parents. There is a lot of variation in the genes, as if the instruction manuals had different spellings for the same word. This makes sure that people are different from one another.
However, a gene can sometimes acquire a change called a “mutation”, which is like a serious misprint in the manual that changes the sense of the words or even stops the manual from being read. If this happens in an important gene, the consequences on the child can be devastating and can lead to a genetic condition. Knowing which “disease gene” has the mutation is often important for doctors making a diagnosis and planning treatment. It can also help families to plan for the future and to know if a future pregnancy is with a child affected with the condition. However, these decisions and choices are made more difficult if the “disease gene” isn’t already known. Many scientists throughout the world are now doing research to find the rest of the disease genes. In other words, they are looking for those many misprints in our genes that can lead to rare inherited conditions.
What is a recessive inherited condition?
A “recessive inherited condition” is a type of inherited or genetic condition. A person with one normal gene and one disease gene is known as a “healthy carrier” and is completely healthy with no symptoms of the condition (known as an “unaffected”). The recessive condition only occurs if a child inherits a disease gene with a mutation from each parent, both of whom are healthy carriers for the condition. The chance of being a “healthy carrier” of the same rare recessive condition is increased if the parents are blood relatives (“consanguineous”).
If both parents are “healthy carriers”
there is a 3 in 4 chance that each of their children will be born without any health problems, but may themselves be healthy carriers (2 in 4 chance) or may not have inherited any mutation in a disease gene (1 in 4 chance)
there is a 1 in 4 risk that each of their children will be affected with the recessive condition
The aim of our research: identifying new recessive “disease genes”
We are running a research project on the genetics of recessive inherited conditions that is funded by the UK charity the Sir Jules Thorn Charitable Trust. The research is not publicly funded or funded by the NHS. The aim of our research project is find new disease genes that can cause recessive inherited conditions, particularly in local West Yorkshire families. Knowing which disease gene has a mutation in a patient can help doctors with early disease diagnosis, which is often one of the most important concerns of a patients’ family or carer.
There are other benefits to knowing the genetic cause for a recessive condition for a patient and family. These include access to trained genetic counsellors, better treatment and care for patients, and, for families, the opportunity to make informed decisions about the future.
How do we identify the disease genes?
The technology to find disease genes has improved tremendously over the past decade. In the past this research was difficult, but gene discovery is now almost commonplace. Many scientists use “next generation genetic sequencing” technology. This technology allows scientists to read (“sequence”) all of a patient’s genes at the same time so that a mutation is found much more quickly. In the past, each gene had to be read one at time which was time consuming and expensive. This new technology has revolutionized the field of genetic research and allows scientists to find rare disease genes quickly and relatively inexpensively.
In our research we use a special technique to find disease genes called “autozygosity mapping”, followed by next generation sequencing technology to identify the mutation in the disease gene. These techniques need genetic information from an affected patient, their parents and also unaffected family members who are healthy carriers of the condition. This information lets us locate or map the disease gene causing the rare disorder, but it is made simpler if we look at the genetic information from “consanguineous” families (the parents are blood relatives).
Research is still slow and hard!
Finding new disease genes and developing new techniques for better healthcare can be a slow and gradual process. Putting together all the evidence through scientific research and then getting it accepted by other scientists (“peer review”) can take time. We cannot guarantee that we will find the disease gene for a particular family, and there may not be any immediate advantage to a family to take part in the research. However, by taking part in this research project, families allow scientists and doctors to study the disease genes to discover new ways of diagnosis, help identify more appropriate management of symptoms and help families make informed decisions in near future.
Contact us for more Information
Please contact our research team for more information.
http://autozygosity.org/blog/
Contact Sir Jules Thorn Project Research Co-ordinator
Nadia Al Adawy
e-mail: n.aladawy@leeds.ac.uk
Meet our research team
Clare Logan uses “next generation sequencing” to read genes in patients
David Parry (above) is analysing the data obtained from the “next generation genetic sequencer” to identify mutations in the disease genes of patients.
Ian Carr develops computer programs to study genetic information
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26 April 2011