Aware for Rare: Exploring Current Challenges in Rare Disease - PART II

Aware for Rare: Exploring Current Challenges in Rare Disease - PART II

In this four-part series, we examine the various challenges faced by patients and families affected by rare diseases. We also interview clinicians, researchers, and the advocacy community at large to understand their perspectives on bottlenecks in rare disease diagnosis and treatment.

Part 2 of the series discusses options if Next Generation Sequencing does not provide a diagnosis as well as the lack of effective treatments and therapies to cure rare diseases.


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All of Us Research Program

All of Us Research Program

It’s been 16 years since the first human genome was sequenced. That undertaking took almost 15 years, cost billions of dollars, and revolutionized genetic research. Since then, new sequencing technologies have led to lower sequencing costs and quicker turnaround times. Sequencing a genome today takes weeks rather than years and costs thousands, not billions.


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Aware for Rare: Exploring Current Challenges in Rare Disease - PART I

Aware for Rare: Exploring Current Challenges in Rare Disease - PART I

In this four-part series, we examine the various challenges faced by patients and families affected by rare diseases. We also interview clinicians, researchers, and the advocacy community at large to understand their perspectives on bottlenecks in rare disease diagnosis and treatment.

Part I of the series discusses the challenges of the limited access to Next Generation Sequencing.


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