Neurological disorders have complex and diverse manifestations. They are a challenge to diagnose and treat. By integrating genomics into the practice of neurology, we can transform the management and treatment of genetic neurological disorders. Through neurogenetics, we can move towards more precise diagnostic and therapeutic processes that reflect the [...]

Genetics has the power to revolutionize every area of medicine. Take oncology. Genetic testing and evaluation can inform cancer diagnosis, preventive action, care plans, and more. Yet, healthcare systems move slowly. They can lag in adopting new treatments and diagnostic innovations. The oncology field has only scratched the surface of [...]

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 [...]

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 [...]

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 [...]

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 [...]

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 [...]

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 [...]