When most people think about epilepsy, they picture seizures without necessarily considering why they happen. But for a significant number of adults, the answer may lie in their genes. In fact, research shows that roughly 40% of adult epilepsy cases have a genetic component. That percentage is even higher [...]
If you’ve been having sensory loss or similar problems, you may have heard the term neuropathy. Neuropathy is a medical term used to describe nerve damage or dysfunction, particularly to nerves outside of the brain and spinal cord. Together, those nerves make up the peripheral nervous system. They play [...]
In neurometabolic and neurogenetic diseases, genetic mutations can affect the brain, spinal cord, nerves, and muscles. Many of these genetic conditions count muscle weakness among their symptoms. In this blog post, we discuss how SequenceMD (and the care teams we collaborate with) evaluate and manage genetic muscle weakness in [...]
Did you know that genetic testing can help you understand your genetic risk for common diseases? Polygenic risk scores (PRS) allow us to estimate your inherited predisposition to complex diseases that affect millions of people annually, including cancer, dementia, and diabetes. How Does Polygenic Risk Scoring (PRS) Work? When [...]
At SequenceMD, one of our specialties is diagnosing and managing genetic neurodevelopmental disorders (NDDs). These conditions impact the growth and function of the brain and nervous system, and they are often associated with intellectual and developmental disabilities (IDDs). Within our genetics clinic, we work with three types of NDD [...]
Finding the right medication for a patient can be a frustrating process of trial and error. If you’ve ever wondered why a medication works well for one person but not another, the answer might be in your genes. Pharmacogenomics (sometimes called PGx) is the study of how your DNA [...]
Ads for at-home whole genome sequencing (WGS) kits are across the internet. They sound simple. You order a kit, collect your DNA, and return everything for testing. Before long, you get answers online about your health. So, how well do these kits work? How do they compare to what [...]
Navigating the complexities of genetics can feel overwhelming, especially when it involves personal or family health. That’s where a genetic counselor comes in. At our clinical genetics practice, our genetic counselors work as your guides. They help you understand genetic information and how it impacts you and your loved [...]
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