Date: 19 April 2016
Time: 20:30 – 21:30 SAST (13:30 E.S.T)
Moderator: Vanessa Carter
In this TweetChat we are honored to have Kelly du Plessis, the CEO of Rare Diseases South Africa to learn more about the rare disease community and the possibilities which technology, genomics and precision medicine holds for patients. The chat is open to local and international patient advocates, nurses, doctors, pharma, charities, IT developers, designers, scientists, policy makers, entrepreneurs and the like.
Click to enlarge infographic courtesy of Siren Interactive.
Rare diseases is an area of healthcare which has been neglected in the past, predominantly because of the high-cost of drug research and the limited patient pool available to get drugs to market.
Commonly called orphan diseases due to their abandonment and lack of support, rare diseases affect an estimated 350 million people globally. Individually rare but collectively common, there are more than 7000 rare diseases identified and statistics available suggest that approximately 50% of cases are those of children.
Some of the common challenges for rare disease patients include:
– Getting an accurate diagnosis
– Assuring patient access to appropriate treatment
– Strengthening ones ability to self-advocate
– Emotional support
– Access to interdisciplinary care
International rare disease day
Rare disease day is a celebration across the globe held on the last day of February each year, recognising rare disease patients and their fight for survival. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.
On the 28th of February 2016, Rare Disease SA held their “jeans for genes” campaign in recognition of this and the event ran on the hashtag #RDDSA. Watch their incredible video to explain more:
With the recent developments in emerging technology like mobile health, bioprinting and the Internet of Things (IoT), many believe that the possibility of precision medicine to treat rare diseases could be possible. President Obama recently announced his Precision Medicine Initiative, budgeting $130 million to establish a one-million strong database of peoples’ genetics, health, and lifestyle data at the National Institutes of Health (NIH) in a effort to identify genomic drivers of Cancer and various other disease.
Taking into consideration the importance of population data in genomics, how can South Africa ensure that it’s able to also leverage new technologies to achieve the highest standard of care for rare disease patients ?
Q: Kelly, what is a rare disease?
A: A disease is considered rare when it affects 1 person in a population group of 2,000. However, due to complicated genomics and consanguinities, some conditions are considered rare in certain parts of the world and more common in others.
Q: How can precision medicine make a difference to the lives of patients?
A: Currently, only 5% of all rare conditions have a treatment available. Generally speaking, these treatments are not curative, and are administered life-long, increasing treatment cost as patients are living longer, whilst only slowing down the progression of the disease. Precision medicine will hopefully focus on the root cause of the genetic problem, creating space for cures and once-off treatments, reducing overall treatment costs and improving the patient’s quality of life.
Q: What sort of statistics are there for people living with a rare disease in South Africa?
A: Unfortunately, there is no rare disease registry in South Africa, so numbers are only based on modelled data. However, the global statistic is that 1 in 10 are affected by a rare condition, and there is no reason to believe this is not the same in South Africa. Due to the lack of diagnostic infrastructure, combined with our “rainbow genetics”, we do find that often patients from Africa are misdiagnosed, or their novel mutations are missed when testing for conditions overseas, as the tests are looking for common mutations found in the US/ European population.
Q: Why are rare diseases so important to research initiatives in the broader perspective of medicine?
A: The competitive nature of the pharma industry makes development of day-to-day drugs and treatments for common conditions accessible and easy to replicate. Rare diseases on the other hand are a relatively un-tapped market, and their margin for growth in terms of drug development is huge. However, the high costs of drug development in this field due to limited patients, and high research development costs, as well as the way in which many of these treatments are administered (many are biologics), market accessibility is more difficult than with mainstream medication. The good news is that the concept development for the treatment of rare conditions often goes on to create major improvements in the treatment of the more common diseases. A prime example of such is gene therapy.
Q: What are the biggest hurdles you believe need to be overcome in South Africa to optimize treatment?
A: In order to receive appropriate treatment, you need to have an accurate and timely diagnosis. Due to the progressive nature and natural history of many rare diseases, timely diagnosis is hugely important to ensure treatment efficacy. It is also important to remember that associated supportive care is hugely beneficial to patients, and commercial treatment alone is often not as effective as a holistic, multi-systemic approach to treatment.
T1: What do you feel is the biggest challenge affecting access to appropriate treatment of rare diseases locally or internationally?
T2: What technologies could be implemented in South Africa to empower rare disease patients?
(International guests: What solutions are being implemented abroad?)
T3: Would you be willing to have your genome studied and the data made available to researchers to develop/improve treatments?
CT (Closing Thoughts): Is there anything you would like to add to this discussion?
Rare Diseases Conference 2016 featuring the 11th ICORD Annual Meeting
The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD) is hosted annually in different countries across the world. 2016 will be the first that this conference is hosted in an African country. It is a massive accolade for South Africa to be selected as host country. This is a great opportunity to get Africa as a continent involved in rare disease development, and provide the ideal platform for engagement in the developing world. Click below to register for Rare X 2016.
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