• By Amanda Sheldon
  • Posted February 28, 2018

Finding the Missing Link of Heart Disease in Families: Familial Hypercholesterolemia (FH)

Many people have friends and family members who tell stories of losing their father when he was 40, or having a mother who had a heart attack in her 30s. These same people may even know that they have high cholesterol, and sometimes are told it is inherited. What they don’t know is that this condition could be familial hypercholesterolemia (FH) …

  • By Linh Ngo
  • Posted February 27, 2018

Part II: Marfan Syndrome and the Unknowns of Genetic Testing

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 …

  • By Aaron Schmidt
  • Posted February 12, 2018

Science in 60 - Genetic Testing and Familial Hypercholesterolemia - (FH)

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 …

  • By Linh Ngo
  • Posted February 8, 2018

Marfan Syndrome and the Unknowns of Genetic Testing

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 …

  • By Ben Feldmann, MS, MB (ASCP)
  • Posted February 5, 2018

American Heart Month: It's All in the Family

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 …

  • By Beth Kuhn
  • Posted January 30, 2018

How I Got Ahead of Cancer After Learning About My BRCA2 Gene Mutation

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 …

  • By Eve Mart
  • Posted November 20, 2017

Genetic Testing May Have Changed Things for My Mom

*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 …

  • By Rowan Shoemaker
  • Posted November 10, 2017

7 Things You Learn When You Get Neuroendocrine Cancer at 23

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! …

  • By Desiree Magee
  • Posted November 8, 2017

Genetic Counselors: Companions on the Journey to Rare Disease Diagnosis

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 …

  • By Michael Squier
  • Posted November 6, 2017

My Grandfather Lost His Pancreatic Cancer Battle, but Taught Me a lot About Life

*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 …