Congenital facial weakness refers to diminished facial movement observed from birth resulting from impaired function of the facial musculature. Individuals affected by congenital facial weakness experience difficulty smiling, expressing facial emotions, and whistling, and they …
Genetics and Metabolism
Division of Genetics and Metabolism will welcome new interim chief
On July 1, Maria Stanley, MD, professor and chief, Division of Developmental Pediatrics and Rehabilitation Medicine, will expand her current leadership roles and become interim chief of the Division of Genetics and Metabolism. In this …
New APP Focus: Leah Colligan
Q&A with Leah Colligan, MSN, NP, CPNP-PC, pediatric nurse practitioner in the Division of Genetics and Metabolism Hometown: Appleton, Wisconsin Educational/professional background: I completed my training at Johns Hopkins School of Nursing. I started my …
Bryn Webb receives research grant from Elijah’s Project for Hope to investigate a rare genetic disorder caused by ‘WARS2’ mutations
The Texas-based non-profit organization Elijah’s Project for Hope has awarded Bryn Webb, MD, a two-year research grant in the amount of $282,553 to investigate a rare genetic disorder that results from mutations in the WARS2 gene. …
Wisconsin State Laboratory of Hygiene and Wisconsin Newborn Screening Program identify newborn disorders
Every newborn Wisconsin baby contributes a bloodspot from a small heel stick that is then tested at the Wisconsin State Laboratory of Hygiene (WSLH) on the UW–Madison campus. Bloodspots are tested for rare and potentially …
Mei Baker receives award to develop newborn screening assay for Angelman syndrome
Ultragenyx awarded Mei Baker, MD, FACMG, professor, Division of Genetics and Metabolism, and director, Newborn Screening Laboratory at Wisconsin State Laboratory of Hygiene, a $50,000 grant to fund her project “Development of a Newborn Screening …
Peggy Modaff to serve on the Little People of America’s Medical Advisory Board
Peggy Modaff, MS, CGC, distinguished clinical genetic counselor in the Department of Pediatrics and clinic coordinator with the Waisman Center Bone Dysplasia Clinic, will serve on the Medical Advisory Board for the Little People of America …
Robert Steiner, co-investigators developing new therapeutic for INCL
Congratulations to Robert Steiner, MD, clinical professor, Genetics and Metabolism, who will serve as a Principal Investigator on a collaborative Small Business Innovation Research grant for the study, “Development of N-tert-(Butyl)hydroxylamine (NtBuHA) as a therapeutic agent for …
UW Health celebrates Genetic Counselor Awareness Day
UW Health and SMPH recognized national Genetic Counselor Awareness Day on November 4 and shared a media advisory about the vital role these medical professionals play in patient care. Additionally, Casey Reiser, MS, CGC, professor, Genetics and Metabolism, and …