Checking whether an unborn child will have Down’s syndrome has always carried the risk of miscarriage. However a new, genetic test - non-invasive prenatal diagnosis (NIPD) may in the future make that a thing of the past.
“NIPD offers the possibility of testing for Down’s syndrome by taking a sample of mum's blood. This means that there is no miscarriage risk as there is with an invasive test like an amniocentesis or CVS,” says Dr Sue Holder, Clinical Geneticist at Northwick Park Hospital.
“We use NIPD already for fetal sexing. For instance we can take a sample of blood from an expectant mother at about 9 weeks to find out if the baby is a boy or girl. Then if she is a carrier of an X-linked condition in the family like Duchenne muscular dystrophy, which only affects boys, you only need to do an invasive test if the baby is male. We also use it for some genetic conditions, but not at the moment for common chromosome problems like Down’s syndrome.”
‘A fantastic home-grown success.” That’s how Cancer Research UK’s Science Communications Manager, Josephine Querido, describes Aberaterone, the drug for men with advanced prostate cancer.
“We’ve been hugely involved with this – we helped fund the scientists at the Institute for Cancer Research who made the early lab discoveries, and we later funded the development of this landmark drug,” she says.
“It’s for men who’ve had treatment with hormone therapy and a certain type of chemotherapy already, which has stopped working. Aberaterone shuts down testosterone production in the body, and it’s the testosterone hormone that can fuel prostate cancer growth.”
This drug gives men in this situation about another four months of life. It’s extra time with friends and family, and improves their quality of life.
Aberaterone was approved by the National Institute for Health and Clinical Excellence (NICE) in May 2012).
Vemurafenib is another cancer-fighting success. This drug targets a gene called BRAF. When this gene is faulty it causes cells to produce a high level of a faulty protein. This, in turn, encourages cancer cells to grow.
“There are lots of different cancer types that have a faulty BRAF gene, but it can be faulty in about half of melanoma (skin cancer) patients,” says Josephine Querido. “Vemurafenib relieves the symptoms of the disease, and extends life by a matter of weeks or months.
About 2.9 million people in the UK have diabetes. Type 1 diabetes, which usually develops early in life (and often in childhood and adolescence), affects about 400,000 of us.
Anyone with Type 1 diabetes currently has to have insulin injections – or wear an insulin pump - for the rest of their lives. However, Dr Roman Hovorka, at the University of Cambridge is carrying out research on an artificial pancreas system, which he hopes, will make life much easier for people with diabetes.
The prototype system being developed measures a patient’s blood glucose levels almost constantly. It sends the information to an insulin pump, which works out how much insulin the patient needs and sends this into their body via a catheter. The benefit of this system is that it helps keep blood glucose at safe levels, reducing the risk of complications.
The artificial pancreas is currently in clinical trials, and being used at home by adolescents, adults and pregnant women with Type 1 diabetes. “These trials only involve a few participants at the moment,” says Dr Matthew Hobbs, Diabetes UK Head of Research, which is funding some of the trials. “But early findings are good, and suggest that the prototype artificial pancreas can give patients much better glucose control than current treatment.”
Scientists at the University of Cambridge have found a new, and efficient way of creating induced pluripotent stem (iPS) cells. These cells have the ability to turn into any other cells in the body, such as blood vessel cells or heart cells
Dr Amer Rana, Lecturer in Regenerative Medicine at the University of Cambridge Department of Medicine, in collaboration with Professor Nick Morrell, and Dr Ludovic Vallier, have managed to isolate cells from the blood which can then easily be developed into iPS cells.
“This means that we can take cells from any patients, even those with blood vessel problems, and blood diseases such as leukaemia, and turn them into iPS cells.” says Dr Rana. This development, funded by the British Heart Foundation, has enormous potential for medical research and for treating cardiovascular and other conditions in the future.
“Right now we are using these iPS cells to model diseases in the lab and develop new medicines, but in the future we want to move towards being able to treat people using tissues grown from iPS cells generated from their own 3blood,” says Dr Rana.
Around 1.5 million people in the UK have Atrial Fibrillation (AF) which is the most common heart rhythm disturbance in the world. It is a major risk factor for stroke and heart failure. Until this year the two most commonly used medicines used to reduce the risk of AF-related stroke have been aspirin; for those with a low risk of stroke, and warfarin, for those with a moderate to high risk of stroke.
Warfarin, is an anticoagulant, that slows the process of blood clotting. Despite its effectiveness, it is under-prescribed because it is often feared by patients and GPs alike, and has a considerable impact on everyday life – from travel to the food and drink people consume.
“If you are on warfarin, it is important to be regularly monitored using blood tests to check that you are within the safe therapeutic range, or whether your dose needs changing,” says Jo Jerrome, deputy CEO of the AF Association.
However, in the past year, new alternatives have become available which have very few interactions with everyday items of food and also other medication, and so do not require regular monitoring. Earlier this year NICE (National Institute for Health and Clinical Excellence) approved two of these new oral anticoagulants, and have just started to review a third; apixaban. In an extensive worldwide trial involving over 18,000 AF patients, apixaban was found to be superior to warfarin in reducing the number of strokes and systemic embolisms, and had a lower bleeding rate.
“Apixaban isn’t available in the UK yet, but NICE will announce whether it has been approved for use here, early in 2013,” says Jo Jerrome. “As apixaban has already been approved for the prevention of stroke, by the European Commission, we hope this will become another option for doctors to consider prescribing when protecting a person with atrial fibrillation from a debilitating stroke.”
There are a huge number of health apps available, and more become available every day. Knowing which app to choose can be difficult because there are so many, but asking family, friends and colleagues for their recommendations, and starting off with apps from familiar sources can help you get started, or add to your existing collection.
The Diabetes UK Tracker app is only available for iPhones at the moment, but may be developed for other smart phones if it proves popular. In September 2012 this free app won the Third Sector Excellence Award for Use of Digital Media. It lets you log and track different levels, from blood glucose and insulin to ketones, and allows you to track how you are feeling and see if this affects your levels.
St John Ambulance First Aid app is for Android phones, and it’s free. It isn’t a replacement for a comprehensive first-aid manual, but it can help in an emergency. Illustrated guides and recorded first aid and emergency instructions are very useful back-ups when you need to act quickly.
The updated NHS Direct app (free and available for iPhones and Android phones) allows you to check your symptoms, have an assessment and advice on your condition, and information on how to look after yourself if that’s what you need. (Currently only available in England). This app was updated in October, 2012.
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