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Explore our collection of informative articles on various diseases
5 Ways Genetic Testing Is Helpful For Those With A Breast Cancer Diagnosis
If you have a current or past breast cancer diagnosis, here are some ways learning your genetic risks may be relevant for...
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What to Expect When Working with a JScreen Genetic Counselor
Genetic counseling is a service that provides you with important information about how genetic conditions might affect you or your family. There are a number of reasons you might seek genetic counseling in which a genetic counselor can help you determine whether a genetic test may be right for you or to help you better understand the results of a genetic test.
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Kendal Jaffe Brings JScreen To Her Community
“Due in part to my medical background and to my passion for Judaism I knew that bringing JScreen to my community was something very important to me. Taking care of children in the pediatric ICU has exposed me to numerous genetic diseases as well as knowing people in my own community whose families have been affected by these conditions has made me realize how necessary these tests truly are.
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National Previvor Day: Elana’s Story
In late 2020, amidst a global pandemic and with the guidance of my GYN, I decided to do a hereditary cancer genetic panel that would test for over seventy known genetic mutations linked to all different hereditary cancers. My own mother is a breast cancer survivor. She was diagnosed at 40 years young but we were always told that because she did not have a BRCA mutation that the cancer wasn’t genetic. Being the daughter of a scientist and a survivor, this didn’t seem like the complete picture.
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Understanding Fragile X Syndrome: Symptoms, Causes, and Genetic Testing
What causes fragile X syndrome? Fragile X syndrome is caused by changes in the FMR1 gene found on the X chromosome. Typically, this gene produces a protein which is essential for proper brain development. In Fragile X syndrome, a part of the FMR1 gene is repeated too many times, resulting in reduced protein production that disrupts the normal brain function and leads to the characteristic symptoms of Fragile X. The number of repeats within the FMR1 gene impacts the severity of the condition.
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How Dating Saved my Life
I thank G-d I don’t have a crazy health story from my childhood. In fact, no doctor or family member ever suspected that anything was different about my health than any of my siblings or friends. However, I bruised easily and had many nosebleeds. Actually, I became knowledgeable early in my childhood on the tips and tricks to stopping nosebleeds.
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Elisa's Story of Niemann-Pick Type A Disease
My hope is that by sharing our story it will stress the importance of genetic testing and awareness and to spare others the same grief and pain that we have endured. By doing so, this will help create an understanding of the importance of genetic testing coupled with genetic counseling, research, and education.
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