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431

Genetical Rare Disorders

Rare disease

WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources. In the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). The EU defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than 5 in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04%) in the country

Neurological
Rare Disorders

194

Endocrine
Rare Disorders

099

Hematological
Rare Disorders

067

Dermatological
Rare Disorders

063

Cardiological
Rare Disorders

058

Platform services

Database for Exrna Therapeutics BASED Rare Diseases

Diagnosis of rare diseases

Early diagnosis of rare diseases is often delayed due to limited awareness among primary care physicians and inadequate diagnostic resources.

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Challenges in research and development

Access to effective treatment for rare diseases remains a significant challenge, with less than 5% of the 7,000-8,000 known

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Prohibitive cost of treatment

The high cost of treating rare diseases, known as "orphan diseases," creates significant barriers to access. Due to small patient populations, drug manu...

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The Indian Scenario

In India, data on the prevalence of rare diseases is scarce, with most cases identified at tertiary hospitals. This lack of epidemiological data hinders understanding

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