On this Rare Disease Day, let us unite in solidarity and support for those facing the challenges
of rare diseases. Each person impacted by a rare disease carries a unique journey, often
marked by uncertainty, resilience, and unwavering strength.
Today, we raise awareness to amplify the voices of those living with rare diseases, to advocate
for better diagnosis, research, treatment options, and support systems. Together, let us foster
understanding, compassion, and inclusivity in our communities, ensuring that no one faces
the journey alone. The journey starts with a good diagnosis to lead to prevention where 80%
of the Rare Diseases do not have definitive treatment.
To all those affected by rare diseases, you inspire us with your courage and determination.
Your stories remind us of the power of human resilience and the importance of standing
together in the face of adversity.
Let us continue to strive for a world where every individual, regardless of the rarity of their
condition, receives the care, support, and dignity they deserve. Together, we can make a
difference.
Considering India, we have a diverse population with numerous ethnicity and race, this makes
our country a melting pot of genetic heterogenicity. More so, to such heterogenicity is the
practice of consanguinity, this specific pattern of marriage has led to formation of multiple
endogamous groups. Centuries of genetic isolation and passing down of diseases to
generations have contributed to founder effects and prevalence of recessive alleles is large
number among the population. These recessive alleles get translated to disease causing and
contribute more numbers to the rare disease population of India.
The biggest challenge lies in diagnosing these Rare Diseases (RDs). There are 8,000 identified
rare diseases up-to-date and over 350 million people diagnosed with rare disease around the
globe. Among this 350 million, >85million people are from India, which indicates this disease
might not be rarer soon. A lot more awareness in “identifying the phenotypes (clinical
symptoms) and suggesting an appropriate diagnostic tests” among the Health Care
Practitioners (HCPs) and our medical fraternity is what we consider as the need of the
moment.
A rare disease patient generally goes through many stages of misdiagnosis, and it takes at
least 7 years to attain the right diagnosis. With advancements of Next-generation Sequencing
(NGS) technologies like Whole Genome Sequencing (WGS) which investigates genetic
variations in our entire genome or Whole Exome Sequencing (WES) which looks only into
“coding-regions” of our genome, the diagnostic burden of these RDs can be significantly
reduced. Bringing in computational analysis and bio-informatic platforms which are
frequently curated and annotated with large datasets from around the globe would help
identifying novel genetic variations among our unique genetic pool of India.
Eventually “Care for the rare” is what this rare disease awareness is about.
