August is Spinal Muscular Atrophy (SMA) Awareness Month

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August is National Spinal Muscular Atrophy Awareness month. Organizations such as Cure SMA coordinate events to promote awareness of spinal muscular atrophy (SMA) in the general public. The shared goal of these organizations is to increase...

Do You Know What Hemochromatosis Is? Should You?

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You may be asking yourself, “What is Hemochromatosis?” And really, that’s what we want you to ask yourself! Hereditary hemochromatosis (HH) is an adult-onset genetic condition characterized by too much iron circulating in the body....

Understanding Fragile X Syndrome

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Meet Mike Tozer, the "Suitman". He hopes to set a Guinness World Record time for running a half-marathon in a suit. But he has an ulterior motive. . . to raise awareness of, and funds...

How Are Genetic Conditions Passed On?

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We’ve all discussed genetic conditions around the dinner table and heard things like, “that disease skips generations” or “we don’t have that condition in our family so it’s not coming from me”. While it can...

How Do We Know the Effects of a Mutation?

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We have more than 22,000 genes. Just over 5,000 of them are disease causing. Our carrier screen looks at around 300 of them. When we look at these genes, we are looking for mutations, or...

Will I Inherit My Family’s Autoimmune Condition?

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“My mom has lupus, is that inherited?  Will I get it, too?  Will my kids?  My uncle has MS, what about that?”  These are common questions that genetic counselors are asked when we take a...

Unraveling the Mental Health Stigma

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I’ve taken thousands of family histories over the last 15 years, and it seems that certain conditions appear in almost every evaluation: diabetes, heart disease, mental health issues. What I find interesting is that mental...

Intellectual Disabilities – It’s Not Always Down Syndrome

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Everyone seems to have a family member affected with Down Syndrome (DS), be it a brother, niece, first cousin or third cousin once removed. However, according to the World Health Organization, the estimated incidence of...

FRAME- Faces Redefining the Art of Medical Education

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Diversity is everywhere you look. It’s in nature, language, literature. Everywhere. Unfortunately, there are moments in society when a difference is seen as a negative. To combat this problem, Faces Redefining the Art of Medical...