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In the realm of rare diseases, misdiagnosis abounds. A 2023 study found that rare disease patients are misdiagnosed an average of three times and see five doctors before being accurately diagnosed. These misdiagnoses extend suffering, complicate treatment, and leave individuals and families grappling with uncertainty and frustration. How Misdiagnosis Happens Misdiagnosis stems from a myriad of factors. Rare genetic disorders, by their very nature, are unfamiliar to most doctors and [...]

In a time of continued scientific and clinical advancements, integrating genetics into healthcare holds immense promise for areas like cardiovascular medicine and care. Today, through advanced testing and analysis, medical geneticists can help patients and their families understand their genetic risk for cardiovascular disease and cardiac events. Working with a patient’s cardiologist and other care providers, a geneticist can also create prevention, monitoring, and treatment plans tailored to a patient’s [...]

Our genetic makeup not only dictates our physical traits but also influences our susceptibility to cancer and other serious health issues. In recent years, the field of genetics has emerged as a beacon of hope, offering insights that empower individuals to make informed decisions about their health. Through advanced DNA sequencing techniques and analysis, medical geneticists can identify predispositions to numerous conditions, including cancer. These genetic evaluations help patients take [...]

A Costly, Expensive and Frustrating Quest for a Diagnosis An experience many of our patients share is one of repeat visits to hospitals, care providers, and specialty practices for tests and examinations. For people with rare diseases, an accurate diagnosis takes 5 to 8 years on average. Others wait decades. Despite all the time spent in doctors’ offices, these patients’ symptoms seem unrelated and unexplainable before they undergo genetic evaluation. [...]

The average person has never heard of connective tissue, but it’s practically everywhere in your body — from your skin to your eyes to your heart. So what is it? Connective tissue provides elasticity, structure and metabolic support to numerous organs, joints and other bodily structures. It binds, separates and supports the tissues of your muscles, nervous system and more.  Because this tissue is so prevalent, a broad range of [...]

The human genome is a complex tapestry of chromosomes and genes. Each one influences our development and overall well-being. Chromosome 15 — one of the 23 chromosomes, which includes one copy each from the maternal and paternal sides — harbors a myriad of genes involved in various functions of the body. This chromosome is unique from most of our others because some genes on Chromosome 15 are only turned on [...]