Research interests: Congenital malformations of the limbs and ears; Prader-Willi syndrome

Dr. Beck’s clinical and research interests are in the elucidation of the genetic causes underlying structural birth differences in children in order to provide improved care for children with genetic syndromes. Her clinical care, both outpatient and inpatient, is based at Seattle Children’s Hospital (SCH) with genetic outreach to other hospitals locally (the University of Washington and Swedish Hospitals) and regionally (Virginia Mason Memorial Hospital in Yakima and St. Luke’s Hospital in Boise, Idaho). She provides additional genetic expertise by attending in several multidisciplinary clinics at SCH.

Applying her research background in the molecular genetics of and physiologic effect on muscle of congenital contracture syndromes that involve the hands and feet (“distal arthrogryposis”), Dr. Beck follows children with many different types of limb contractures at the SCH Arthrogryposis multidisciplinary clinic. Designing custom panels to sequence a large number of genes that can cause contractures has been very helpful in providing answers and subsequently more tailored management recommendations to patients and their families in this heterogeneous group of conditions.

Dr. Beck has also had a long-standing interest in ear malformations that are inherited in families. Specifically, two conditions that Dr. Beck studies are the oculo-auriculo-vertebral spectrum (OAVS) and isolated familial microtia. The genetic contributions to these two ear malformation syndromes are not yet well understood. However, the autosomal dominant inheritance patterns of these birth defects make them good candidates for gene discovery.

As part of another SCH multidisciplinary team, Dr. Beck cares for children with a condition called Prader-Willi syndrome (PWS). Individuals with PWS are born with such low muscle tone that they usually need alternate feeding methods in the first few months of life. This low muscle tone improves over time, particularly with the use of growth hormone. However, lack of satiety after eating becomes a serious issue after a few years of age, and learning problems are common. The initial screening test for PWS (a methylation study) is very accurate, but then determining which of several underlying molecular reasons for PWS is more challenging. As part of this team, Dr. Beck studies ways to improve our clinical and molecular understanding of this condition in order to improve care in children with PWS.