Genetic screening is vital for early diagnosis and management of genetic diseases. Dig into how it works, how it can help treatments reach patients sooner, and how it informs traditional treatments like physical therapy.

The Importance of Genetic Screening

A podcast about how doctors think. Presented by Figure 1, the knowledge-sharing and collaboration app for physicians and healthcare professionals. Learn more at Figure1.com/ddx

Education

Training

Language Courses

Higher Education

K-12

Educational Technology

Medicine

Science & Medicine

Health & Fitness

A 45-year-old is out for a drive. As she accelerates her stick-shift car, she starts to experience familiar, and scary, symptoms: facial tingling, numbness around her mouth, and her hands cramp and lock onto the steering wheel … Her story takes many wrong turns, but eventually she is diagnosed with hypoparathyroidism, a rare bone disease, and finds an experimental treatment that changes her life.

The Bumpy Road to Hypoparathyroidism Diagnosis and Treatment

A 9-year-old cannonballs into the shallow end of the pool. There’s a stab of pain through her hip. What seems like just a bump takes a complicated turn. After discovering a bone growth, the child is diagnosed with fibrodysplasia ossificans progressiva. This extremely rare bone disorder has a devastating impact, but thanks to unexpected areas of research, patients have new reasons to hope.

Unexpected Therapies for Fibrodysplasia Ossificans Progressiva Offer New Hope

During a 20-week ultrasound appointment, there’s devastating news: the baby’s bones are broken and bowed. Despite this, the baby is born and does well. After testing, all signs point to hypophosphatasia. And thanks to the life-changing treatment of enzyme replacement therapy, today, this child and many others with this rare bone disease are living happy, healthy lives.

Overcoming the Odds of Prenatal Hypophosphatasia

What’s thought to be a case of newborn hiccups unravels to a grim diagnosis: generalized arterial calcification of infancy, or GACI, a rare genetic condition with a challenging prognosis. Nearly half of infants don't survive beyond six months. But a revolutionary clinical trial could potentially transform this child's life and the lives of others with this disease.

The Power and Potential of GACI Clinical Trials

A 62-year-old falls and fractures her wrist. This simple fracture reveals underlying osteoporosis, requiring lifelong (and expensive) medication. But this is where biosimilars come in. Biosimilars are extremely similar to the original drug they're designed to imitate, but much cheaper. This makes them more accessible to more people, meaning fewer fractures … better health … a better economy … and ultimately, a better quality of life.

The Importance of Genetic Screening

Download our free app to listen on your phone