The Importance of Genetic Testing for Those of Jewish Heritage

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For Jocelyn and her husband, both of Ashkenazi descent, the importance of genetic testing was barely a question in their minds when planning to conceive.  Aware that their Jewish heritage put them at a higher...

Living with a Rare Disease: A New Perspective on Gardner Syndrome

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Worldwide, there are between 5,000 to 7,000 rare diseases in existence.  For those living with a rare disease finding access to proper care or an appropriate network of support can pose a significant challenge.  Today...

November Marks Awareness Initiatives for Alpha-1-Antitrypsin Deficiency

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This November is Alpha-1 Antitrypsin (AAT) awareness month.  Throughout the United States, United Kingdom, Australia and Canada, many different organizations, government initiatives and patient awareness groups have been working diligently to promote AAT awareness. AAT is one of the...

Celebrate Family Health History Month with Carrier Screening

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When it comes to preventing hereditary cancers and passing on genetic diseases, the best secret weapon you can have is to know your family health history.  For diseases that tend to reoccur in families, such...

Making Meaning: The Role of Genetic Counselors

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With technological advances, it is getting easier and easier to unravel our DNA, read our genes, and discover genetic information about ourselves. But how do we understand what it means? And what do we with...

October is Gaucher Disease Awareness Month

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Along with pumpkins and other fall festivities, October marks awareness initiatives for several causes such as Gaucher disease, Down syndrome and breast cancer. Gaucher disease is caused by mutations, or changes in the GBA gene...

Crowdfunding Success Offers Hope For Rare Genetic Diseases

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Rare diseases, defined as affecting fewer than 200,000 Americans at a given time, affect 250 million people worldwide. These diseases are often undiagnosed or misdiagnosed, information on how to manage the disease and its symptoms...