What incentives do scientists have to study rare diseases

Subject: Science and Tech

Section: Defence

Context:

The 2024 Breakthrough Prizes laureates demonstrate the cutting edge ways scientists are making use of basic science to improve the quality of human lives.
But they also highlight systemic, non-scientific factors that influence what scientists choose to study and who gets to access the fruits of their labour .

About Breakthrough Prizes:

Created in 2010 by Silicon Valley entrepreneurs: Milner, Mark Zuckerberg, Priscilla Chan (Facebook), and Sergey Brin (Google).
Acknowledges top scientists globally in fundamental sciences.
Categories include mathematics, fundamental physics, and life sciences.
First awarded in 2012; inaugural ceremony hosted by Morgan Freeman.
The Breakthrough Prizes, often dubbed the “Oscars of Science,”
Awardees receive $3 million each, surpassing the Nobel laureates’ $1 million prize.
Includes additional prizes like New Horizons in Physics and Mathematics and the Maryam Mirzakhani New Frontiers Prize for early-career researchers.

Rare Diseases

Rare diseases, also known as orphan diseases, pose unique challenges due to their low prevalence in the population.

Characteristics Of Rare Diseases:

Rare diseases are debilitating lifelong conditions occurring infrequently in the human population.
WHO defines rare diseases with a prevalence of 1 or less per 1000 population.
In India, a prevalence of less than 100 patients per 100,000 people is considered as a rare disease.

Examples Of Rare Diseases:

Tyrosinemia-Type 1:
- A rare autosomal recessive genetic metabolic disorder.
- Characterized by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
- Results in the abnormal accumulation of tyrosine, potentially causing severe liver disease.
Gaucher’s Disease:
- Characterized by the accumulation of glucocerebroside in organs.
- Organs, particularly the spleen, liver, and bone marrow, enlarge and may suffer impaired function.
Wilson’s Disease:
- A rare genetic disorder leading to the accumulation of copper in organs.
- Affects the liver, brain, and cornea.
Dravet-Lennox Gastaut Syndrome:
- Two distinct types of epileptic syndromes.
- Dravet syndrome: A severe form of epilepsy beginning in infancy.
- Lennox-Gastaut syndrome: Childhood-onset epilepsy with multiple seizure types and cognitive impairment.

RARE DISEASES IN INDIA:

Approximately 450 rare diseases identified, with 80% of patients affected by around 350 rare diseases.
Estimated burden of 80 to 96 million cases annually in India.
70-80% of rare diseases are genetic, and the majority remain asymptomatic until later in life.
Less than 5% of rare diseases in India have available therapies.

GOVERNMENT INTERVENTIONS:

National Policy for Rare Diseases, 2021:
- Aims to lower the incidence and prevalence of rare diseases through an integrated preventive strategy.
- Encompasses awareness generation, screening, and counseling programs.
Production Linked Incentive Scheme 2.0 for Pharmaceuticals:
- An INR 15,000 Crore initiative supporting orphan drugs development.
- Targets Category 1 pharmaceutical goods in the Production Linked Incentive Scheme.
Central Drugs Standard Control Organisation (CDSCO):
- Provisions for fast-track processing of applications for rare disease drugs in drug trials and experimental therapies.
- Exemption of application fees for potential drug candidates.
Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN):
- A non-profit clinical genomics research network.
- Establishes a network of clinicians and scientists for extensive clinical genomics research in India.
Council of Scientific & Industrial Research (CSIR):
- Establishes the Indian Genetic Disease Database (IGDD).
- Tracks mutations in causal genes for genetic diseases common in India, providing insights to physicians and researchers.