Our geneticists work closely with the clinicians in the assisted conception unit to help people with serious genetic conditions have healthy children.
Our genetics department also has a strong focus on rare genetic diseases. These are diseases that affect less than 1 in 2,000 (according to the EU). Although these disorders are individually rare, grouped together they have a large impact:
1/17 people in the UK are affected by a rare disease through friends and family
1/100 babies are born with a serious developmental disorder, often caused by very rare genetic abnormalities.
Because these individual disorders are so rare, it is difficult for a single hospital to recruit enough people to a study, so we work with hospitals and health organisations across the UK and internationally.
Our NIHR Biomedical Research Centre has a rare disease initiative. This uses exome sequencing as an efficient and cost-effective way to identify genes associated with diseases. It involves selectively sequencing key regions of the human genome. We can now identify genes associated with a rare condition within weeks and months, rather than years.
Helping people with genetic disorders have healthy children
PGD (pre-implantation genetic diagnosis) is a treatment for people who know they have, or carry, a serious genetic condition that they do not want to pass onto their children. Their embryos are tested to ensure they are unaffected by the condition before they are implanted in the womb.
Our programme is the largest and most successful in the UK; approximately 60% of PGD carried out in the UK happens in our clinic.
Our PGD team are world leaders in research. They invented a revolutionary technique called ‘preimplantation genetic haplotyping’, which is more reliable, allows us to test for more genetic conditions, and identifies more embryos that are suitable for implantation. This technique is being taken up by other clinics in the UK and around the world.
Hunting genes involved in rare diseases
Identifying genes by sequencing DNA used to be a laborious and time-consuming process – it would often take 4-6 years. Our NIHR Biomedical Research Centre has the latest sequencing technology, which means we can now identify genes associated with diseases in just weeks or months.
We focus on rare diseases. In just 18 months we discovered:
a gene that causes pustular psoriasis
a gene linked to a rare form of osteoporosis
a gene that causes a predisposition to Acute Myeloid Leukemia
a gene responsible for a condition causing defects of the heart, limbs or blood vessels (Adams Oliver Syndrome)
a gene linked to brain, eye and lymphatic development (Microcephaly-Lymphodema-Chorioretinal Dysplasia, MLCRD)
a gene linked to the development of the knee cap, genitals and nervous system (Genitopatellar Syndrome)
Finding the causes of inflammatory bowel disease (IBD)
71 new genetic regions associated with inflammatory bowel disease (IBD) have been found by a large international team, including researchers from our NIHR Biomedical Research Centre.
The research brings the total number of genes for IBD to 163, the largest known for any disorder.
Over 75,000 blood samples from all over the world were studied, including several thousand from Guy’s and St Thomas' hospitals. The research highlights the contribution of an individual’s genes to the development of their disease.
The study reveals both differences and similarities in the genetics of Crohn’s disease and ulcerative colitis, the two most common forms of IBD, which could affect the way patients are treated.
Genetic analysis may allow us to predict the type and severity of disease, and could lead to new, personalised treatments for patients with IBD. It may also help to identify people who are at increased risk of developing IBD, and who might benefit from screening for early signs of these disorders.
This is just a small amount of the research we do in this area. If you’re a patient interested in finding out more, then speak to your consultant at your next appointment. If you are not a patient at Guy’s and St Thomas’ then speak to your own consultant in the first instance.