Page 2 - Read Online
P. 2
Topic: Genetics, Diagnosis
and Treatment of Rare
Diseases
Individually uncommon, rare diseases
collectively impact many lives and may
inform our knowledge of more common
conditions. With advances in molecular
based technologies, our ability to detect and
screen for genetic disorders has improved,
Dr. Andrea L. Gropman and led to identification of new syndromes,
almost weekly. Additionally, we are
Andrea Gropman, M.D., learning the functional consequences of
FAAP, FACMG, FANA, is genetic variations, some of which may serve
the principal investigator of
the Urea Cycle Disorders as druggable targets. In the rare disease
Consortium (UCDC) and the space, the concept of treatment has taken
UCDC imaging consortium on several meanings including traditional
and serves as leadership pharmacological approaches specific for
roles on the RDCRN and a condition, drug repurposing, as well as
in genetic, metabolic and RNA based, gene therapies, oligonucleotide
neurology societies. Dr. approaches, splice switching approaches,
Gropman serves as the division N of one therapies, and genome editing.
chief for Neurogenetics This special edition entitled “Genetics,
and Neurodevelopmental Diagnosis and Treatment of Rare Diseases”
disabilities. Her research will highlight the advances in genetic
interest focuses on establishing technologies that have advanced diagnosis,
biomarkers of neurological understanding of molecular mechanisms,
injury in patients with inborn target identification and therapies.
errors of metabolism, such
as urea cycle disorders and
mitochondrial disorders, using
specialized neuroimaging
modalities and cell markers.
