What are intellectual and developmental disabilities (IDDs)? Intellectual and Developmental Disabilities (IDDs) are a group of disorders that affect cognitive function and physical or neurological development. These conditions can impact how people learn, communicate, and perform everyday activities. People with IDDs may struggle with communication, social interactions, self-care (like [...]

If you have family members with cardiac issues, there may be underlying genetic factors you should know about. If the problems began at a young age or have another unusual factor, that’s an even bigger sign to pay attention. Even when a family member has been diagnosed, they may [...]

Nearly every baby born in the United States now undergoes genetic newborn screening. But did you know that those tests only cover a fraction of their genes?  Each state has distinct requirements, but these newborn tests typically cover 30 to 50 diseases. For some children, that testing is sufficient. [...]

It’s incredibly frustrating to leave a doctor’s office feeling like they didn’t listen or understand your concerns. You may feel disheartened, helpless or frustrated, especially when dealing with chronic symptoms or a condition that severely impacts your quality of life. If this sounds familiar, you’re not alone. If you [...]

When to Get Genetic Evaluation and Testing for Kidney Disease If you’re considering genetic testing for kidney disease, you probably already know the kidneys play a big role in our health. They filter waste products, toxins, and excess water and salt from our blood to form urine. This process [...]

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 [...]