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Topic: Newborn Screening I - Real World Applications and Technologies
Research in the Pearce Lab focuses on understanding
the molecular basis of several inherited pediatric neuro-
degenerative diseases, including the infantile, late infantile
and juvenile onset forms of Batten disease.
Dr. Pearce and his team use mouse and miniature pig models
of these rare, fatal diseases to reveal molecular and cellular
pathomechanisms, to identify new therapeutic targets and
to test new therapeutic approaches.
Prof. David A Pearce
Department of Pediatrics, Sanford School
of Medicine, University of South Dakota,
Sioux Falls, SD, United States.
Virginie Bros-Facer received her PhD in Neurosciences
from King’s College London, UK followed by several
postdoctoral research projects at the Institute of Neurology,
UCL, London focused on testing therapeutic strategies for
Amyotrophic Lateral Sclerosis. After leaving the lab, she
worked for several research funding organizations in the
UK including the National Institute for Health Research,
the Medical Research Council and as Medical Director
for Sparks, a medical research charity focusing on rare
pediatric diseases. Virginie then joined EURORDIS-Rare
Dr. Virginie Bros-Facer Diseases Europe as Scientific Director where she was
Illumina, Evry, France. leading on project development and patient engagement
in rare disease research projects representing the voice of
rare disease patients, including within the International
Rare Disease Research Consortium (IRDiRC). Just
under 2 years ago, Virginie joined Illumina as Associate
Director for Medical Affairs, Europe where she is
engaging key opinion leaders and centers of excellence
to develop clinical evidence for genetic testing of rare and
undiagnosed patients to drive clinical NGS adoption and
implementation in patient care. She has re-joined IRDiRC
as a member of the Diagnostic Scientific Committee and
coordinates a dedicated working group on real-world
applications and technologies for newborn screening.
