Trivandrum, India — Dr. Roshan Daniel, Clinical Geneticist, one of India’s top centers for advanced genetic diagnostics, has launched the “28 Days, 28 Rare Diseases”campaign in observance of Rare Disease Month.
The initiative aims to raise public awareness about rare diseases, promote early diagnosis through genetic testing, and support affected families across India. February is globally recognized as Rare Disease Month, culminating in Rare Disease Day on February 28th, which celebrates the strength and resilience of those living with rare conditions.
“Each disease may be rare, but together they affect millions. Through awareness and genetic testing, we can bring clarity, guidance, and hope to families,” said Dr. Roshan Daniel.
Understanding Rare Diseases
A rare disease affects fewer than 1 in 10,000 people, yet over 7,000 such conditions exist worldwide. Many are caused by genetic mutations—some inherited, others arising spontaneously. Because of this, genetic testing and counselling play a crucial role in uncovering the root cause and guiding personalized care.
Role of Genetic Testing and Counselling
Modern techniques such as gene panels, whole exome sequencing, and genome sequencing can identify disease-causing variants with precision. These tests:
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Confirm the diagnosis and guide specific treatments
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Help families understand inheritance patterns
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Enable early detection and preventive care for relatives
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Support research toward better therapies
Genetic counselling further helps families interpret results, plan for the future, and cope emotionally with a diagnosis. It also provides options like prenatal diagnosis and IVF with genetic screening, empowering families to make informed decisions.
Hope Through Science
While many rare diseases currently lack cures, medical advances are changing the landscape. Treatments such as enzyme replacement therapy, small-molecule drugs, bone marrow and organ transplants, and emerging gene therapieshave significantly improved outcomes. Early diagnosis remains the most powerful step toward effective care.
Dr. Roshan Daniel, leads the Department of Medical Genetics and Precision Medicine at KIMSHEALTH Trivandrum, continues to champion India’s rare disease movement and is the founder of Genetidoc Genetic Clinic and DNA Testing Lab, which offers advanced diagnostics, counselling, and educational outreach under one roof.
The “28 Days, 28 Rare Diseases” campaign runs throughout February, sharing daily stories, facts, and resources to promote awareness and inspire action.