Bengaluru, February 27, 2025 - MedGenome, a global leader in genomics-driven diagnostics and research services, launched its campaign, #CarefortheRare, ahead of Rare Disease Day. The campaign was unveiled with a documentary aimed at highlighting the critical role of genomic testing in early detection and management of rare diseases. The campaign highlights the profound impact of undiagnosed inherited diseases on patients and honors families caring for loved ones affected by rare conditions. Over the last decade, significant scientific innovations and technology integration have made advanced diagnostic tools such as genetic testing widely available, revolutionizing the complex disease diagnosis and management landscape.

MedGenome’s video showcases the emotional journey of a mother whose child was diagnosed with mitochondrial disease at just six months of age. In a heartfelt narration, she shares how her perfectly healthy seeming baby, meeting all expected milestones, was diagnosed with a rare condition that changed everything for the family. The clinician overseeing the child’s care provides insights into the challenges faced by rare disease specialists in the past, and how genetic testing has brought a paradigm shift by providing solutions or closure for families who would otherwise lose hope. The video poignantly illustrates the profound emotional and financial strain these diseases have on families, emphasizing the need for greater awareness and support for those impacted by rare diseases.

According to Dr. Ann Agnes Mathew, Consultant Pediatric Neurologist and Neuromuscular Specialist who led this case, "Mitochondrial disease was once considered a death sentence. This condition causes mitochondria in cells to lose function, leading to decreased energy production, resulting in muscle weakness, neurological issues, developmental delays, and organ dysfunction. The severity of the disease varies from person to person and can worsen over time. Without genetic testing there was no way to identify this disease and traditionally, there was no cure, with treatment focused on managing symptoms and supporting the affected areas of the body. However, recent research has shown that a ketogenic diet may offer significant benefits in managing the disease. While following this diet is a long and challenging process, the results have been promising. I commend the family and child who have committed to this strict regimen and have seen encouraging improvements."

Dr Vedam Ramprasad, CEO, MedGenome states, “Identifying the genetic basis of a disease in a patient allows us to take action in two key ways; First, we can provide an accurate diagnosis, bringing an end to the diagnostic odyssey that many patients endured just a few years ago. Second, genomics has transformed how we manage the disease, prevent its occurrence in other family members, and predict its progression, fundamentally improving patient care."

He further adds, “Having a rare disease patient in a family not only affects the patient’s health but also places a significant economic burden on the family. Early detection, carrier screening, and genetic counseling are crucial tools in preventing or managing these diseases more effectively, especially in populations with a high disease burden.”

MedGenome's campaign, #CarefortheRare, brings attention to the challenges faced by families living with rare diseases, while fostering greater understanding and support for their journey. Advancements in the field of omics, genomic sequencing techniques such as next-generation sequencing (NGS) and the integration of AI for healthcare analytics are making faster, more comprehensive, and cost-effective solutions more accessible to a broader population. As a result, individuals can receive quicker diagnosis and benefit from better-informed treatment decisions.

Here’s the video which incorporates the essence of the same:

https://www.youtube.com/watch?v=Xk1GYIHmTos

About MedGenome:

MedGenome is a leading global genomics-driven diagnostics and research services company with a mission to improve global health by decoding the genetic information contained in an individual's genome. It provides data-driven insights at the genetic and molecular level to diagnose complex diseases and facilitate research in precision medicine. MedGenome is the market leader for genetic testing in India offering over 1,300 high-end genetic tests across major disease categories: oncology, inherited diseases, reproductive diseases, infectious diseases and preventive wellness. Genessense, MedGenome’s direct-to-consumer division, launched in 2021, provides tests in the preventive wellness category that help understand an individual’s genetic susceptibility to various lifestyle diseases. Over the last decade, the company has conducted over 600,000 genetic tests through a network of over 5,000 hospitals and more than 15,000 clinicians across India, built the largest database of South Asian genetic variants, and is a founding member of GenomeAsia 100K, an initiative to sequence 100,000 South Asian genomes.  MedGenome has a global presence with the largest CAP-accredited genetic testing laboratory in South Asia, a high-throughput next-generation sequencing lab in Foster City, California, and operations across the US, India, Singapore and Africa. To learn more, follow us on Twitter and LinkedIn.