Rare Disease Day Event

Rural Rare Disease Day 09 MARCH 2018

This Year the Rare Disease Day activity shifts back to the rural Mannankadu in Thanjavur District in Tamil Nadu. School students will be part of the event. Science talk focussed at sensitizing students about rare diseases is the goal.

In an associated activity students will be made to understand color blindness in population. The students will be screened for color perception deficiency with digital Ishihara Color Charts Test. The students will be taught to do basic statistical anlysis of the test results and help understand and identify the students with color deficiency.

அரிய நோய் நாள், மன்னங்காடு, தஞ்சாவூர் மாவட்டம், தமிழ் நாடு 614613. பள்ளி மாணவர்களின் பங்கேற்பு, அரிய நோய்கள் பற்றிய விளக்கம், நிறப்பார்வை குறைபாடு சோதனை போன்ற நிகழ்ச்சிகள்.
        Estimated rare diseases population in South Asian countries

The common denominator of rare diseases is the infrequency of their occurrence in the human population. Often debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population is defined by the World Health Organization (WHO) as a rare disease. Yet, a few developed and developing countries have their own definition to suit their requirements. This has resulted in heterogeneity in rare disease definition and therefore consensus among nations does not exist. Nevertheless it is generally accepted that a disease having fewer than 100 patients per 100,000 population is described as rare disease and fewer than 2 patients per 100,000 is described as ultra rare disease. Ultra rare diseases are rarest of rare diseases. Rare and ultra rare diseases are sometimes referred to as orphan and ultra orphan diseases, respectively.

Table 1. Rare diseases and Disorders (RDD) population are statistically derived from published data of respective national population census of 2011 or later. These derived data are based on the lower limit of global prevalence estimate. Table 2A & B. Similarly estimated data for states and territories of India.

Of the several thousand, currently pegged around 7000 reported rare diseases or disorders, except for a handful, most do not have epidemiological data available. Each one of these uncommon diseases widely varies in its prevalence. Considering the sheer number of identified rare and ultra rare diseases and their varying prevalence, it becomes nearly impossible to ascertain the total number of rare (and ultra rare) disease patients in the world. However, on the basis of available prevalence data on few select rare diseases, there is a consensus of sorts that exists among the researchers about the number of total global rare disease afflicted population. Gross estimate of the number of rare or ultra rare disease patients is 6 - 8% of global population and is widely accepted by the researchers. This consensus, fortunately, allows us to fathom the situation at hand and also helps provide geographic regional estimates. Here an attempt is made to derive ‘probable’ numbers for rare and ultra rare disease patients in various South Asian countries based entirely on officially reported current population of respective countries (Table 1). Similarly, rare disease patient numbers for individual states and territories in India is derived as well (Table 2A & B).

A head count for every individual rare disease may not be possible. The caveat is that the real number of rare disease affected population in the world cannot be ascertained unless the prevalence of every individual rare disease is established by systematic studies. There may be many unreported rare diseases, ultra rare diseases waiting to be described in developing countries. South Asian countries where consanguinity is prevalent may harbor unique geography-specific rare diseases and might add another dimension to the scenario. The estimated 6 - 8% population encompasses not only patients with 'diseases' but also patients with 'disorders'. A person with polydactyly (a condition of having additional digits beyond normal) is not considered to be a patient in this respect, but it is a deviation from normal yet non-debilitating and therefore it is a disorder. Thus the numbers in the Tables 1 & 2 incorporate both rare disease and disorder patients. PDF of this document Download

Rare Disease Patients of Rural India

Rare Diseases Reviews (RDR) is a collection of short reviews  on  rare diseases and disorders intended for students and non-specialist readers. RDR gives a simplified narrative of uncommon diseases and disorders and introduces them to the readers. These reviews are based entirely on published reports from various scientific journals and other authentic sources. The RDR articles are contributed by knowledge donors.

Choose a disease title to read from panel on the left. You are invited to write a review article on a specific rare disease or disorder. For choosing a disease title, author instructions and submission of your review article please refer to links in Authors' Corner at left.

National Science Day 
& Rare Disease Day
February 26, 2017
Periyar Nagar Public Libarary, Chennai, India 

Rare Disease Day
February 28, 2016
Periyar Nagar, Chennai, India 

Rare Disease Day
February 20, 2015
Mannankadu, India - More Info

Challenge Yourself: 

Rare Disease Day
February 4, 2014
Kasangadu, India - More Info

World Orphan Drug Congress USA, April 10-13, 2012
fRRDD participated in this rare disease conference. 

Diseases can be rare, not remedies  Duraiswamy Navaneetham - article from 
The Hindu newspaper

Rare Diseases: The General Scenario And How We Can Change It.  Read this article

Developing rare disease resources in developing countries. The 2nd Conference on   Clinical Research for Rare Diseases. September 21, 2010, NIH, Bethesda, USA. Read this abstract