Genetics

Whether genetic testing is ordered in the hospital or at an outpatient clinic, the journey for providers and parents differs depending on the testing strategy.

Even when there is no family history of CF, a person can be a carrier without knowing it. Identifying disease-causing mutations by carrier testing may people find out they are a carrier of CF.

Vascular anomalies are often the result of abnormal development in blood vessels. About one in 5,000 people experiences some kind of vascular anomaly, sometimes as an inherited condition.

If a genetic disorder is found early in a young child, the person can be monitored and a healthy life may result.

Around the U.S., infants entered the world full of life. Those new babies received a heel prick to test their blood and metabolism for abnormalities. That routine is all about early detection.

The identification of skeletal dysplasia symptoms creates a great worry for expectant parents, especially when they learn that some skeletal dysplasias are not compatible with long-term survival.

The difference between a blood sample and a lung tissue sample is significant. Until recently, this was not a choice for patients suspected of having a rare form of pulmonary hypertension.

Using whole exome sequencing, Rong Mao, MD, and Pinar Bayrak-Toydemir, MD, PhD, discovered a new genetic mutation on the PIEZ01 gene linked to hemolytic anemia with autosomal dominant inheritance.

For a patient battling lung cancer, the discomforts and risks of undergoing repeated biopsies, surgeries, and radiologic scans can now be replaced by a far less invasive method.

Whitney Wooderchak-Donahue, PhD, was one of six recipients worldwide to receive the grant award from Cure HHT, an international organization that supports HHT patients and their families.