Registry Will Be Live Soon — Stay Tuned for Updates

The Centre for Rare Disease Diagnosis, Research and Training is developing a comprehensive patient registry, a powerful resource designed to accelerate the pace of rare disease research in India and beyond. The registry is a secure, centralized database that systematically collects and organizes clinical and genomic data from the families who participate in our work.

Our vision is to create a valuable, controlled-access research resource that empowers researchers, clinicians, and healthcare professionals to make new discoveries, identify patterns in disease, and ultimately drive improvements in patient care and outcomes on a global scale.

The Registry will house a rich dataset of de-identified clinical and genetic information. By making this standardized data available, we aim to foster collaborative research and provide the scientific community with the tools needed to investigate the complexities of rare disorders.

Each registry entry will include de-identified information across the following domains:

• Demographics
• Genomic Details
• Clinical Information
• Variant Classification

Trust is the foundation of our relationship with the patients and families who partner with us. We are deeply committed to the highest standards of data security, privacy, and ethical conduct.

• Consent is Paramount
  Participation in our research and the inclusion of data in the registry is entirely voluntary. Every family is taken through a detailed briefing and provides explicit written informed consent before any information is collected. Families have the right to withdraw from the study at any time.

• Protecting Patient Identity
  We use a process called pseudonymization to protect patient privacy. All personal identifiers (such as name and other personal details) are removed from the data and replaced with a unique identification number. The link between this number and the patient's personal information is held in the strictest confidence and is accessible only to the core clinical team at Manipal Academy of Higher Education (MAHE). This identifying information is never shared with other researchers or collaborators.

• A Resource for Collaboration
  Because rare diseases are uncommon, data sharing is essential for scientific progress. We welcome collaborations with researchers from India and around the world. Approved researchers can be granted access to the de-identified data in our registry, helping to accelerate discoveries that will benefit all patients with rare diseases.

Access to de-identified registry data is granted to approved researchers following a formal review process. All data access requests are evaluated to ensure ethical use, scientific merit, and alignment with the Centre’s data governance and data-sharing policies.