#RareDiseaseDay 2015: Rare diseases are rare but rare disease patients are numerous

Rare disease is any disease that affects a small population. Majority of rare diseases are genetic and present in early childhood. The definition of rare disease is different in different geographies. An incidence of less than 1 in 2000 in Europe and affection fewer than 200,000 at any given time in USA is considered as a rare disease. The importance of rare disease is in the fact that the actual number of patients affected by rare disease are large and the poor diagnostic and therapeutic measures makes the battle difficult to win. The #RareDiseaseDay is an initiative by some organisations to increase the awareness and spread the word about this not so rare condition.

Some facts about rare diseases:

1. Till now there are about 6000-7000 and rare diseases and new diseases are constantly being added to the  medical literature
2. Nearly all genetic diseases are rare diseases, but not all rare diseases are genetic diseases
3. Some rare  infectious diseases, such as auto-immune diseases and rare cancers also come under this group
4. Rare diseases are serious, often chronic and progressive, diseases.
5. Some rare diseases may present at birth or in childhood
1. Proximal spinal muscular atrophy
2. Neurofibromatosis
3. Osteogenesis imperfect
4. Chondrodysplasia
5. Rett syndrone
6. About  50% of rare diseases appear during adulthood
1. Huntington diseases
2. Crohn disease
3. Charcot-Marie-Tooth disease
4. Amyotrophic lateral sclerosis
5. Kaposi's sarcoma
6. Thyroid cancer.

Medical and social consequences of rare diseases

1.       No cure for many of the rare diseases
2.       An appropriate treatment and medical care for the rare diseases with treatment available can improve the quality of life of those affected and extend their life expectancy
3.  3.     Difficulties faced by rare disease patients: diagnostic measures, relevant information and proper direction towards qualified professionals
4.  4.    The patients are also more psychologically, socially, economically and culturally vulnerable
5.  5.     Biggest challenge is due to the lack of sufficient scientific and medical knowledge, majority of patients are not diagnosed and their disease remains unidentified

Way forward

1.  1.       Extend diagnostic  reach
2.  2.       Improve knowledge of the natural history by the creation of registries
3.  3.       Enhance research and development
4.  4.       Implement patient friendly health policy which should target on making screening, diagnosis and treatment available to the general population

Read more at

http://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN

http://www.rarediseaseday.org/article/what-is-a-rare-disease

#MalariaResistance #K13MolecularMarker #GlobalMalariaProgramme #ArtemesininResistance

A recent study published in The Lancet infectious diseases, has recorded high prevalence of P falciparum parasites carrying K13-propeller mutations next to the northwestern border of Myanmar with India. The study was a cross-sectional survey between Jan 2013-Sep 2014 at 55 malaria treatment centres in Myanmar, and in relevant border regions in Thailand and Bangladesh.

The main results observed are:

•            39% of samples with K13-propeller mutation
•           70% of the ten administrative regions of Myanmar, the combined K13-mutation prevalence was more than 20%
•           Geospatial mapping showed an overall prevalence of K13 mutations exceeding 10% in much of the east and north of the country
•           In Homalin, Sagaing Region, 25 km from the Indian border, 21 (47%) of 45 parasite samples carried K13-propeller mutations.
•           Artemisinin resistance extends across much of Myanmar.

Some of the factors leading to the development of artemisinin resistance are:

·        Uncontrolled use of artemisinin-based combination therapy (ACT)

·        Mobile populations and migrants

·        Artemisinin monotherapy

·        Use of subtherapeutic levels of artesiminin

·        Substandard and counterfeit drugs

·        High treatment cost, and

·        Co-use of artemisinin derivates as prophylactic agents

Way forward

According to the #GlobalMalariaProgramme by WHO the continued use of oral artemisinin-based monotherapy (oAMT) is one of the main contributing factors for the development and spread of artemisinin resistance. The way forward is to protect the therapeutic life of artemisinin-based combination therapy (ACT).

In view of the rapidly spreading artemisinin resistance, the countries specially affected will be malaria-endemic countries. This will also threaten the progress achieved in malaria control by many countries.  

Read more at

http://www.thelancet.com/journals/laninf/article/PIIS1473-3099(15)70032-0/abstract

http://www.who.int/malaria/publications/atoz/oral-artemisinin-based-monotherapies-1may2014.pdf

#WorldCancerDay 2015: Yesterday, today and tomorrow

World cancer day was originated in 2000 at the first World Summit Against Cancer in Paris. It was an initiative of the Union for International Cancer Control supporting the goals of the 2008 World Cancer Declaration. The significance of the day is to create awareness and involve the government leaders and policy makers to reduce the global cancer burden. This can only be achieved by an integrated approach where every single individual contributes.

Turacoz Healthcare Solutions as a medical communication company is joining the fight against cancer by launching an online portal exclusively for creating awareness, bringing the latest in healthcare in terms of diagnosis, management, quality of life and rehabilitation.

The theme for 2015 is "Not Beyond Us" with a main goal to reduce cancer related illness and deaths by 2020. It calls for a positive approach towards the problem with the best utilization of available resources and solutions.

The four key areas of focus this year are:

1. Choosing healthy lifestyles

2. Delivering early detection

3. Achieving treatment for all

4. Maximizing quality of all

The journey towards a cancer free world is long and enduring. The participation of every individual, community, healthcare professionals, pharmaceuticals, biotech companies and policy makers in their own capacities can achieve the goals and targets of World Cancer Day.