Navigating Clinical Trials: A Guide for Rare Disease Patients

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Navigating Clinical Trials: A Guide for Rare Disease Patients

A condition is defined as a rare disease if it affects fewer than 200,000 individuals. Approximately 7,000 conditions meet this definition. In 2016, the United States Food and Drug Administration awarded $23 million dollars towards a four year period that supported research for 21 different rare diseases. However, most rare diseases lack disease-modifying therapies or effective medications for several reasons…

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All of Us Research Program

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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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RG Rare Disease Day Acknowledgment: Small steps make a big difference

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RG Rare Disease Day Acknowledgment: Small steps make a big difference

LOS ANGELES, CA; April 15, 2019 --

Thank you to all our supporters on **Rare Disease Day 2019**, we are so thankful to have a community that is working with us to push science and medicine forward to meet the needs of rare disease patients.

This year we were lucky to have a new community raise awareness with us on Rare Disease Day. We want to thank all Illumina employees who decided to advocate for rare disease patients on this important day. When we say that every bit makes a difference, that is because it makes all the difference, especially for families with significant unmet need.

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Scripps Study to Use Sequencing to Identify Rare, Life-Threatening Genetic Conditions

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The Scripps Translational Science Institute, in conjunction with the San Diego Medical Examiner, is launching a study that will use genomic sequencing to help explain the causes of mysterious, sudden deaths in otherwise healthy children, adults, and infants.

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