World Rare Disease Day: Improving the accessibility of genetic testing and counseling services for rare diseases will enable early detection and prompt intervention.
List of Rare Diseases |
Go to source) are typically chronic and progressive medical conditions that pose life-threatening risks to those affected. Out of the 350 million patients suffering from rare disease globally, India alone is home to approximately 72-96 million patients, according to the Ministry of Health and Family Welfare (MoHFW).
Genetic Research Centre (GRC) - Timely Therapeutic Interventions for Rare Diseases
Genetic Research Centre (GRC) also aims to facilitate timely therapeutic interventions and provide critical support for both patients and their families. The centre also holds approval under Pre-Conception and Pre-Natal Diagnostic Techniques Act, 1994 (PCPNDT) to conduct genetic counselling and testing. While the GRC is currently offering its services in Maharashtra, people with rare diseases from other parts of the country can avail the services, ICMR-NIRRCH said.
Basics of Rare Diseases
Rare or orphan diseases are least understood of all chronic diseases. They are more common than projected and kill more people than cancer and HIV together.
Rare or orphan diseases are least understood of all chronic diseases. They are more common than projected and kill more people than cancer and HIV together.
‘Enhancing the availability of genetic testing and counseling services for rare diseases will facilitate early diagnosis and timely intervention. #rarediseases #worldrarediseaseday’
Did You Know?
The recently established Genetic Research Centre (GRC) will evaluate clinically abnormal instances of rare pediatric diseases and trace the origins of undiagnosed genetic disorders.
“Strengthening access to genetic testing and counselling for rare diseases will pave the way for their early diagnosis and timely intervention, helping improve the health and wellbeing of some of the most vulnerable sections of society. This is a revolutionary step that can transform several lives, especially young lives in the country,” said Dr. Geetanjali Sachdeva, Director, ICMR-NIRRCH, in a statement.
With no approved treatment for 95 percent of rare diseases, the diagnosis of rare diseases is challenging. While early genetic testing is key, diagnosis is conducted through a distinctive blend of clinical and laboratory methods, including cytogenetic, biochemical, and molecular approaches.At present, the centre is providing its services to around 570 families yearly, covering genetic conditions during infancy, childhood, and adolescence, as well as for reproductive difficulties faced by couples.
“Our centre is working to address a critical public health concern. By reaching out to special schools, hospitals and the public, we are striving to raise awareness around rare diseases and enhance uptake of essential testing and counselling. In doing so, we aim to mitigate the societal burden of these diseases and realize the national goal of a healthy society, with universal access to healthcare services,” said Dr. Shailesh Pande, Medical Geneticist and Head GRC, in the statement.
Rare Diseases Day: Rare is No More Rare
Join the global movement. Rare Disease Day, raises awareness, empowers communities, and drives research for those with rare conditions.
Join the global movement. Rare Disease Day, raises awareness, empowers communities, and drives research for those with rare conditions.
- List of Rare Diseases - (https://rarediseases.org/rare-diseases/)
Test Your Knowledge on Rare Diseases
Rare or orphan diseases are the least understood of all the categories of chronic diseases. gene disorders. Almost 50% of those affected are children and 30% of these children will not live beyond the age of 5. It takes nearly 7 years to diagnose a ...
Rare or orphan diseases are the least understood of all the categories of chronic diseases. gene disorders. Almost 50% of those affected are children and 30% of these children will not live beyond the age of 5. It takes nearly 7 years to diagnose a ...
Artificial Intelligence Helps Find Similar Cases, Diagnose Rare Diseases
The new machine learning tool acts like a search engine for pathology images and has many potential applications, including identifying rare diseases.
The new machine learning tool acts like a search engine for pathology images and has many potential applications, including identifying rare diseases.
