Rare Disease World Sees New Pioneer

There rare disease world has another rising hope in research and development.

Her name is Christina Waters, and she is the founder and CEO of Rare Science, a California non-profit whose mission objective is to aid children and families of rare disease and to help find a diagnosis and treatment. She has now become part of the team at genomics firm Wuxi NextCODE as senior VP, and her focus will be on rare disease institutions.

Among her many responsibilities, Christina will be utilizing networks and social media for patient outreach. She will be taking existing platform to the next level. The idea is to give service directly to the patients and their families.

Equipped with medical records of patients, they are teaming up with research institutions, healthcare systems and pharmaceutical companies with the mission of solving problems and treating more rare disease cases.

They are tackling genome sequencing and interpretation head one, along with state of the art artificial intelligence that makes it easier to store genomic data that will help aid rare disease diagnosis. They plan to screen a larger majority of patients in hopes of finding patterns.

In order to pull this off, WuXi NextCODE has teamed up with the world’s leading institutions in pediatric care which includes Boston Children’s Hospital, the Children’s Hospital of Fudan University in China and Genomics England. They’ve created the world’s top database of genetic variation for rare diseases.

“Only a platform with millions of genomes can provide the network effect and knowledge base that enable everyone to derive greater benefit, continually attracting more users, more data, and delivering ever more powerful health insights to serve people and patients everywhere,” WuXi AppTec founder and chairman, Ge Li, said in an interview with Fierce Biotech.

 Let’s hope that Christina can take part in changing the face of rare diseases in the future.

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