February 25 through 28 marked Rare Disease Week on Capitol Hill in Washington, D.C. Hosted by Rare Disease Legislative Advocates, a program of the EveryLife Foundation for Rare Diseases, it is a weeklong event that …
Genetics and Metabolism
CDC grant for collection of sickle cell data in Wisconsin supports work by Anne Marsh and Mei Baker
Anne Marsh, MD, associate professor, Division of Hematology, Oncology, and Bone Marrow Transplant, and Mei Baker, MD, professor, Division of Genetics and Metabolism, are part of a cohort of investigators recently awarded funding by the …
Mei Baker invited to serve on the Committee on Newborn Screening in the National Academy of Science, Engineering, and Medicine
The National Academy of Sciences, Engineering, and Medicine has invited Mei Baker, MD, professor in the Division of Genetics and Metabolism and director of the Newborn Screening Program at the Wisconsin State Laboratory of Hygiene, to serve as …
Janet Legare will lead two clinical trials for novel therapeutic interventions for achondroplasia
The Midwest Regional Bone Dysplasia Clinic at UW Health was recently selected as a site for two new clinical trials aimed at helping the growth of children with achondroplasia, the most common form of short …
Genomics research unravels the etiology of congenital facial weakness
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 …
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 …