RARE Toolkits

Below is a list of all of our current RARE Toolkits.

GENETIC TESTING: IS THIS MY PATH TO A DIAGNOSIS?
        
Introduction
Introduction

More than 350 million people worldwide suffer from a rare disease. If a disease affects fewer than 200,000 people in the United States, it is considered rare. There are currently about 7,000 rare diseases identified worldwide, and approximately 80 percent are caused by genetic changes. These diseases are often chronic, progressive, complex, life-threatening, and affect the quality of life.

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The rapid evolution of technology is accelerating the speed and reducing the cost of genetic testing, making it more accessible to patients. Through genomics, doctors are able to determine the molecular cause of diseases that are oftentimes rare. While it doesn’t always lead to a diagnosis, sometimes doctors are able to identify the root cause of a disease, which can lead to improved treatments. This is still just the beginning of a new age of genomic medicine. As advances occur and a better understanding of the genetic causes of rare diseases are understood, more patients who are undiagnosed today will benefit.

Quote Mark

"There’s so much to do on the horizon, to encourage families to persevere and help in terms of supporting their child and determine ways to connect with the scientific community. Now is one of the best times in history to be able to understand these rare diseases and to start to think about developing therapeutics and cures for them."

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C. Jimmy Lin

President of Rare Genomics Institute

This toolkit is designed to provide rare disease patients and their families an introduction to genetics and genetic testing. Advances in genetic testing are rapidly changing the way patients are being diagnosed and treated and providing new hope to patients with rare, genetic diseases.

This toolkit is sponsored by:

Ambry Genetics

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