Rare disease day 2014!Read More
The 7th annual rare disease day is here! It is a day held each year to empower patients, their families, advocates, policymakers, industry and other healthcare providers to take action and raise awareness about rare diseases. The event started in Europe, and is now global with over 70 countries participating. To date, the day has helped the advancement of national plans and policies relating to rare diseases.
The theme of this year’s day is ‘care’. In the UK emphasis will be placed on implementing the UK Strategy for Rare Diseases, which was launched at the end of last year. Strategies for improving the outlook for patients with rare diseases focus on research, prevention, diagnosis and screening, treatment, care and support, information for patients and professionals, and commissioning and planning of rare disease services.
In Europe the definition of a rare disease is one that affects 1 in 2,000 people; in America a rare disease is a disease that affects fewer than 200,000 people at one time. Worldwide, over 300 million people live with a rare disease, so although rare diseases are rare on their own, as a collective they affect millions of people.
Some rare diseases have no known cause whereas others are linked to genes, infections, allergies, environmental causes, or degenerative and proliferative changes. Genetic abnormalities account for approximately 80% of rare diseases. For people with rare diseases, it can take a long time before an accurate diagnosis is made. Once diagnosed, it may be a struggle to get the appropriate treatment because the disease is poorly understood. Many rare diseases have no cure, so learning to live with the disease is important for patients and their families.
There are over 6,000 recognised rare disorders. These include diseases that most people will have heard of such as cystic fibrosis (CF) or sickle cell anemia, and also diseases that many people will not have heard of such as Prader-Willi syndrome (PWS) or idiopathic juvenile arthritis.
Cystic fibrosis is a rare disease that can result in the lungs and digestive system becoming clogged with thick mucus. Symptoms include a persistent cough and recurring chest and lung infections. Cystic fibrosis is a genetic disease and has no cure. In 1962 median survival for CF was 10 years, now it’s 41 years!
Recent research has brought new hope to CF suffers; the potential new treatmentinvolves delivery of an enzyme that is able to degrade alginate (a bacterial product) and breakdown mucus in the lung. The enzyme activity helps clear the way for antibacterials to reach the surface of bacteria, and reduces the amount of antibiotic needed. In the future, this treatment could improve the quality of life for those with CF.
Sickle cell anaemia is a hereditary blood disorder and is classed as a rare disease. A characteristic of the disease is sickle (crescent) shaped red blood cells, which carry oxygen less efficiently. The sickle cells have a tendency to clog vessels, and are not replaced as quickly as normal red blood cells leading to anaemia. Sickle cell anaemia is caused by a mutation in the haemaglobin gene. Individuals with one copy of the defunct gene and one normal gene, display both normal and abnormal haemoglobin. Interestingly, the prevalence of sickle cell anaemia in Africa and India can be as high as 30%. This is because malaria is common in these regions, and carrying a single sickle cell gene confers ‘fitness’. For those with both normal and sickle red blood cells the symptoms of malaria are less severe.
Prader-Willi syndrome is a rare genetic disorder characterized by low muscle tone, short stature, cognitive disabilities, behavioural problems and chronic feelings of hunger that can lead to excessive eating and life-threatening obesity. The syndrome is caused by abnormalities in 7 genes on chromosome 15. Now that the syndrome is well characterized children are being diagnosed earlier, and the obesity rate in children with PWS has decreased. A mother of a patient with PWS said:“Parents who care 24/7 should have more readily accessible help when needed, and respect for their care and views”
Idiopathic juvenile arthritis is an example of a rare disease with no known cause. The condition affects children under the age of 16 and is characterized by pain and swelling of the joints. It is a chronic condition, which will be life long. Treatment can be given to reduce the swelling, maintain full movement of affected joints and ease the pain. Getting an early diagnosis is important to help halt progression of the disease, and to allow the affected children to lead a normal active life.
Despite the problems faced by those suffering from rare diseases there is hope for the future in the development of new treatments for rare diseases. For example, since the orphan drug act of 1983 more than 2,700 potential treatments have entered the research pipeline, and 400 of these orphan medicines are now FDA approved. Orphan medicines are products intended for the diagnosis, prevention or treatment of life threatening or debilitating rare diseases. The name ‘orphan’ comes from the fact that the pharmaceutical industry has less interest under normal market conditions in developing and marketing drugs for a small number of patients suffering from rare conditions. A quote from the ‘orpha.net’ website suggests: “There is no disease so rare that it does not deserve attention.”
Please tweet your comments to @EmilyAtNotch
Monkey avatars, cell therapeutics and genes in spaceRead More
Last week was an exciting week for science. With the launch of a smartphone game designed to aid the discovery of new cancer treatments, a breakthrough in treatment for leukaemia and the development of controlled movement through a monkey avatar – innovative uses of science and technology are driving advances in medicine, now more than ever.
Spinal cord damage causes thousands of people to suffer from lost or impaired function, often leaving them unable to walk or feed themselves. A new piece of machinery, developed by scientists at Harvard Medical School, hopes to give functional control back to paralyzed people. Using two monkeys, a brain chip was inserted into the first ‘master’ monkey. This could monitor the electrical activity of 36 electrodes implanted into the spinal cord of the sedated ‘avatar’ monkey. During training, their patterns of physical and electrical activities were matched, and using brain scans that read the master monkey’s, mind this stimulated movement in the avatar’s arm. The brain chip could monitor the activity of up to 100 neurons, and in the future this technology could allow the creation of completely natural movement stimulated by the person’s own brain signals. This has a long way to go, but is the first step towards offering people with brain stem or spinal cord paralysis the ability of movement.
Leukaemia immune cell therapy breakthrough
This week in Science Translational Research magazine, a study was published which made huge progress in treating adult B cell acute lymphoblastic leukaemia (B-ALL). A clinical trial on 16 acute lymphoblastic leukaemia patients found 14 of them had achieved complete remission, after receiving the therapy. This extraordinary success offers hope for patients where other treatments have failed. By altering patients’ T cells to express a specific chimeric antigen receptor, they are engineered to target and kill cancer cells expressing the CD19 antigen. Only available in research settings, the long-term effects have yet to be explored and this hasn’t yet been approved by the Food & Drug Administration (FDA).
Smartphone game used in the fight against cancer
The new app, Play to Cure: Genes in Space is a game that allows players to help research scientists to analyse vast amounts of genetic data. The player must steer the spaceship to follow the ‘Element Alpha path’, and shoot asteroids as they go, highlighting genetic faults that can cause cancer. The path left behind by the ‘citizen scientist’ is a stream of peaks and troughs, which can be used to identify genetic abnormalities linked to cancer. The data are processed and sent back to Cancer Research UK, where scientists can identify areas that require further research. With each time a player plays the game and contributes their data, this app is accelerating the discovery of new treatments. Developed by Guerilla Tea, it is the world’s first app created to unravel genetic data, and so far 200,000 people have classified almost 2 million cancer images.
Come across any innovative and ground-breaking science you’d like to share? Let me know @Rajatnotch !
Saint Valentine’s Day/Valentine’s Day/Feast of Saint ValentineRead More
Happy Valentine’s Day! Here at Notch we love talking Chemistry, and today is no exception. So, do you actually love with your heart or is it just a chemical reaction?
Valentine’s day is believed to be derived from St Valentinus, a saint that was executed after serving a prison sentence on 14th February 270AD. Claudius II, a Roman emperor, had put a marriage ban on Rome, as he wanted to keep men single so that they would join the army. St Valentinus was found out to be performing illegal weddings and imprisoned. Whilst in prison he was visited by one of his jailor’s blind daughters, who wanted to be cured. Miraculously she was cured and carried on visiting. On the day of his execution, it is believed that St Valentinus wrote a letter to the girl and signed it ‘from your Valentine’.
Cut to, 2014 and how we’re celebrating today. Most countries celebrate in the same way by exchanging gifts; chocolates, flowers and cards between loved ones. Sweden’s Valentines Day or Alla Hjärtans Dagis as it’s known, is spent celebrating with lovers, close family and friends. In Japan, South Korea and Taiwan the women give men chocolates and a month later, March 14th the men return the favour – this is known as ‘White Day’. In Dominican Republic & El Salvador a game called Angelito is played where family and friends rip up pieces of paper, write someone’s name down and then they give a present to his/her Angelito. In Vietnam, couples wear the same style and/or colour of clothes. Whilst many see this holiday as a ‘Hallmark Holiday’ the first offered Valentine’s Day card was in 1913 and Hallmark began producing them in 1916. Will you be sending any of the estimated one billion Valentines cards that are sent each year, worldwide?
In terms of Chemistry, the feeling when first falling in love of your racing heart, flushed skin and sweaty palms, is all thanks to dopamine, norepinephrine and phenylethylamine that we release in the body. This cocktail of chemicals produce elation, intense energy, sleeplessness, craving, loss of appetite and focused attention. This is known as the attraction stage. Following on from that comes the attachment phase and this is where oxytocin and vasopressin is released. These two combined cements a longer lasting commitment between two people and creates a strong bond.
Do you know any science chat up lines? A personal favourite of mine is; Do you have 11 Protons? Because you’re Sodium fine!
Tweet me with yours @JennaAtNotch
Super Bowl XLVIIIRead More
If you’re reading this from your desk today, well done. You have overcome the widely spread bout of ‘Super Bowl sickness’ that has swept the U.S and beyond, stretching over that little pond called the Atlantic. We at Notch salute you.
For many in the U.S, Super Bowl Sunday may as well be a national holiday, with the sporting event considered second only to Thanksgiving in terms of food consumption (1.25 million chicken wings, anyone?).
It is estimated that more Brits call in sick on the day following the NFL Super Bowl than any other day of the year. This year, the UK broadcaster, Channel 4, launched a spoof Super Bowl sickie service for those that stayed up until the early hours of Monday morning. Whether your affliction is a bout of influenza as a result of the first ever outdoor, cold weather Super Bowl (49 degrees Celsius – not too chilly for us Brits and not even the coldest Super Bowl on record), or, more common 24-hour illnesses such as Bibituria Hangovurus or Bacon Disease, the ‘Super Sickie’ site has been designed to provide the perfect cover. You will even receive a virtual sick note signed by Dr. Pigskine, and be cared for with a prescription ‘duvet day’ Spotify and 4OD playlist. Perfect!
Social campaigns such as ‘Super Sickie’ (see the ad here) are always a huge hit around the Super Bowl, with an estimated 61% of Super Bowl viewers sharing commercials on social media before, during and after the sporting event. YouTube has been described by Lucas Watson, its VP of sales and marketing, as “an amplifier and extender of the Super Bowl.” With a 30-second spot costing $4 million, and an average production cost in excess of $1 million, the ‘replay’ and PR value achieved through tweets, likes, comments and shares is what determines the success of a brand’s campaign. 24.9m tweets were generated during the 48th game alone. The commercials are, for some, widely anticipated just as much as the sporting event itself: several studies have proven that 50% of the Super Bowl audience tunes in just to watch the ads. This year’s Super Bowl was definitely more a battle between the brands, as opposed to the Seahawks 43-8 dominant victory over the Broncos on the pitch.
Of the 49 commercials that were watched by up to 110m viewers there was one clear favourite, and we must confess it tugged at our heartstrings too. Budweiser’s “Puppy Love” (#BestBuds) followed the special friendship between the Clydesdales and a puppy. The commercial has already achieved more than 36m views on YouTube and is the most widely shared Super Bowl advertisement to date according to Viral Video Chart. Coca-Cola’s “It’s Beautiful” (#AmericaIsBeautiful), Chrysler’s “America’s Import” (#AmericasImport) and Axe’s “Make Love Not War” (#KissForPeace) were also amongst the list of leading commercials.
JCPenney’s #TweetingWithMittens became a hot topic on social media (they’ve clearly never heard of touchscreen gloves!), when it was cleverly hijacked by a host of brands including Snickers, Kia, Doritos and Macy’s. A good example of real time marketing – but not one that will beat last year’s infamous “Oreo Moment” following the 2013 blackout tweet.
Disappointingly, Apple did not mark the 30 years since their game-changing ‘Why 1984 won’t be like 1984’ commercial that not only saw the launch of the Macintosh, but went on to become one of the most memorable Super Bowl ads of all time.
For those that missed out on the Super Bowl so that they could be fresh as a daisy for work come this (Monday) morning, you can catch all of the ads here, as well as Billboard’s 2013 Artist of the Year, Bruno Mars’ spectacular halftime show, accompanied by the Red Hot Chilli Peppers