Imagine being 12 years old. You are perfectly healthy, leading a normal life. One morning you wake up temporarily blind. Today we will hear personal accounts what it is like to have Neuromyelitis Optica (NMO) and what is being done to combat the rare disease. What is the best treatment? Is genetic testing available? What… Read more »
Posts Categorized: Rare Disease
FRAXA: searching for answers to the leading cause of inherited autism
As a genetic counselor who focuses on preventative care, I am asked regularly about autism. What causes autism? How can I get screened for autism? Am I at risk of having a baby with autism? Autism is considered a complex condition, with a myriad of possible risk factors. However, there is one exception; the most… Read more »
THE VIBRANT GENE Talk Show: Genomic Sequencing For Newborns?
Testing a newborn’s DNA could identify health risks, providing an early alert for parents and health providers. What are parents’ experiences with learning this information? Short on time? Here’s a teaser: A research project at Brigham and Women’s Hospital and Boston Children’s Hospital is exploring what may be the next generation… Read more »
DTC Genetic Testing: 5 questions to consider before you buy!
Five key points to help you decide There are many things to consider when deciding whether or not to proceed with online genetic testing or not. Unlike other health screens such as checking your blood pressure, or bone density, knowing your genetic carrier status can alter your own self-perception. There are many considerations that should… Read more »
Direct-to-Consumer Genetic Testing Pros and Cons
Part 1: What is DTC Genetic Testing? February 26, 2015 Last week a company called 23andMe was awarded approval by the Food and Drug Administration to offer genetic testing to you at home. This is the first time the FDA permits a rare disease gene to be screened without a healthcare professional’s involvement. After reading… Read more »
Three-Parent IVF Babies?: allow us to explain…
(Part 1) February 12, 2015 (updated March 9, 2015) Photo by Erin Lee The UK is the first country in the world to legalize the use of 3-parent IVF techniques. The FDA is currently reviewing the technique for use in the US. How can three parents create one biological baby? Much of this post… Read more »