This Rare Disease Day, Charcot-Marie-Tooth (CMT) patient Bethany Meloche talks about her journey with a rare genetic condition and how she answered the question, "Is it better not to know?" http://ht.ly/v8mM30iEQAK
Over 3,000 genetic conditions affect the neurologic system – and 75% of these conditions affect children. Families who live with rare conditions often feel isolated; @CNFoundation and @globalgenes are working to change isolation to empowerment. Learn how you can be part of this community: http://bit.ly/2EmogJE
We are excited to be part of the recent launch of the Turner Syndrome Foundation research exchange! This joint effort seeks to advance research and inform Turner syndrome treatment and care, while helping patients learn from one another and understand their own health.
We are proud to announce TSRX - a research opportunity that puts you in control!
We’ve lowered our patient-pay panel price from $475 to $250 as part of our dedication to making high-quality genetic testing affordable. Our goal is to make genetic testing accessible to everyone who needs it, including patients who do not meet coverage policies for testing, have high-deductible plans, or aren’t covered by insurance. http://ht.ly/ZbPZ30hYFxQ
Join CURE: Citizens United for Research in Epilepsy on December 13 for the third webinar in our joint series: Katie Angione, MS, CGC from Children’s Hospital Colorado and Lacey Smith, MS, CGC from Boston Children’s Hospital will share clinical cases in targeted treatments for genetic epilepsies. Save your spot: http://ht.ly/SJsj30h9Aph
Missed our webinar with CURE: Citizens United for Research in Epilepsy? Replay Dr. Joseph Sullivan and Dr. Swaroop Aradhya's talk on diagnostic yield and detection of childhood epilepsy: http://ht.ly/C6Lr30gCTYo
With Thanksgiving around the corner, we are encouraging all families to discuss their history of disease around the dinner table. Not sure where to start? We've put together tips to help you gather your family medical history. http://ht.ly/xCfL30gtxaG
It’s Pancreatic Cancer Awareness Month. Do you know the genetic risk factors?
According to the American Cancer Society, people with a family history of pancreatic cancer, individuals diagnosed with Lynch syndrome, and carriers of genetic variants in BRCA1 or BRCA2 have a higher risk of developing pancreatic cancer in their lifetime.
Have you ever wondered what a genetic counselor really is? To celebrate the first annual Genetic Counselor Awareness Day, Invitae genetic counselors, Kate Lynch and Sienna Aguilar, share what makes their jobs meaningful. #IAmAGeneticCounselor http://ht.ly/AVph30grRuG
Join CURE: Citizens United for Research in Epilepsy on November 13 for a webinar on diagnostic yield and detection of childhood epilepsy with Dr. Joseph Sullivan from UCSF and Dr. Swaroop Aradhya from Invitae. Save your spot: http://ht.ly/hwZf30gjwtP