Rare diseases often remain undiagnosed due to unknown etiologies. In recent years, researchers have made headway in characterizing the molecular causes of rare diseases thanks to progressively powerful sequencing technologies, such as whole genome and exome sequencing.
In this episode, Deanna MacNeil from The Scientist spoke with medical geneticist and chair of the department of pediatrics at Boston Children's Hospital, Wendy Chung, to learn how the rare disease field has evolved alongside advances in next generation sequencing.
Scans of Sundry Variant Types Uncover Autism-Linked Genes
The Scientist Speaks is a podcast produced by The Scientist’s Creative Services Team. Our podcast is by scientists and for scientists. Once a month, we bring you the stories behind news-worthy molecular biology research. This month’s episode is sponsored by Velsera.
Speaker:
Wendy K. Chung, MD, PhD
Chief
Department of Pediatrics
Boston Children’s Hospital
Harvard Medical School
Velsera is a company dedicated to advancing precision medicine through innovative sequencing solutions. We understand the challenges faced in diagnosing and treating rare diseases, and our expertise lies in providing cutting-edge tools and technologies to accelerate research in this critical area. By harnessing the power of next-generation sequencing, Velsera is committed to empowering scientists and clinicians to unlock the genetic underpinnings of rare diseases. Together, we can work towards a future where every patient has the opportunity to receive an accurate diagnosis and effective treatment.