But genetic testing is not a final exam. It is only the beginning. Linh NgoWriter, wanderer, science rambler Editor's Note: As part of Marfan Syndrome Awareness Month, we are reposting this blog from sciwalkcafe.org with the author's permission. This is Part 2/2. Part 1 can be viewed here. People tend to think about genetic…
Editor’s Note: Science in 60 is a new video series from Ambry in which our researchers will give a brief overview of how genetic testing can help everyone understand disease. In this inaugural segment, Ambry genetic counselor Tami Johnston, MS CGC, looks at how genetic testing can improve the diagnoses and treatment plans for patients with…
Editor's Note: As part of Marfan Syndrome Awareness Month, we are reposting this blog from sciwalkcafe.org with the author's permission. This is Part One, the post will be concluded later in the month. I have Marfan syndrome. Everyone and their moms know it. I am tall and lanky. My fingers are spindly and my lenses are dislocated. I was…
February is American Heart Month, so what better time to consider not only your own heart health, but that of your entire family? Just as we share common traits with our relatives such as eye and hair color, we may unknowingly share a genetic pre-disposition to cardiovascular disease. Conditions such as arrhythmias, cardiomyopathies, aortic aneurysms…
After watching my mom and aunt battle bilateral breast cancer - which included chemotherapy, radiation, mastectomies (surgical removal of the breast(s)), and all the physical and emotional anguish that accompanies it – I learned that I carry a BRCA2 gene mutation. It runs in our family. I was told that my inherited BRCA2 mutation…
*Editor's Note: In honor of Family History Day, which is on Thanksgiving, Eve Mart is sharing the story how hereditary cancer has shaped her relationship with her mother, and how genetic testing may have been able to help change the course of her mother's health. I often tell women “be your own best advocate”, and I truly mean it.…
1. I learned what neuroendocrine cancer is At 23 years old, I was diagnosed with an aggressive form of neuroendocrine cancer. Initially, I remember thinking “great- not only do I have cancer, I have a rare cancer that I’ve never even heard of!” Now, after completing treatment and in remission, I feel as if I could teach a class on the subject!…
Our daughter Daphne started missing developmental milestones at around 6 months of age. She was unable to sit on her own and unwilling to eat baby food. We started down the path of diagnosis, which was long and exhausting and went like this: First, we went to our pediatrician to document our initial concerns and obtain referrals for a physical…
*Editor's Note: This Pancreatic Cancer Awareness Month, Ambry's Creative Director, Michael Squier, is sharing memories and lessons learned from his grandfather, who lost his battle to pancreatic cancer. Ambry encourages everyone to know their family history of cancer. If someone in your family has pancreatic cancer, you could be at an increased…
Did you know that 1 in 8 American men will be diagnosed with prostate cancer in their lifetime? And that your risk is increased if you have a brother or father who has been diagnosed? You may never know that men and their families are quietly battling this disease, even though the statistics are the same for women and breast cancer. So why does…