Adrienne Borrie
ADRIENNE BORRIE- MSc DEFENSE PROGRAMME
B.Sc., McMaster University, 2007
Exam location:
Room 3113, Centre for Molecular Medicine and Therapeutics, 980 West 28th
Avenue, Vancouver, BC
Adrienne Borrie Defense Programme -pdf
EXAMINING
COMMITTEE
ABSTRACT
Aniridia is a rare genetic panocular disorder which, for the
majority of cases, is caused by mutations or chromosomal rearrangements
involving paired box gene 6 (PAX6). Peters’ anomaly (PA), also a genetic eye
disorder, has also been found to be associated with mutations in PAX6, and also
in FOXC1, PITX2, and CYP1B1. However, in approximately 20% of patients who have
aniridia and 75% of patients with PA, no mutation has been found in PAX6, or
other genes involved these eye disorders, and for these patients, their genetic
mutation is unknown. This precludes these patients from genetic testing and
thus, from gaining the benefits from genetic counseling and early medical
interventions. My hypothesis was that patients who have aniridia, Peters’
anomaly or related eye disorders, for which genetic cause is unknown, have
mutations in NR2E1. The purpose of this thesis was to study patients with
aniridia, Peters’ anomaly, and related eye disorders in order to identify
mutations in a novel candidate gene, NR2E1. Here, the first germline amino acid
change was identified in the NR2E1 gene in a patient with Peters’ anomaly and
his mother, and not found in 392 control subjects. The identification of an
amino acid variant in NR2E1 is significant as it supports the hypothesis that
NR2E1 is a regulator of eye development in humans and has implications for the
gene in the development of eye disorders. If future analysis leads to the
identification of NR2E1 mutations in additional patients, it will allow
patients with eye disorders of otherwise unknown genetic etiology to receive
the benefits of modern genetic medicine and genetic counseling. This future
work endeavors to provide the scientific and medical community with a greater
depth of knowledge of the role of NR2E1 in genetic eye disorders.
AWARDS
Post Graduate Scholarship – Masters Award, NSERC for $17,300
(2008)
Medical Genetics Graduate Entrance Scholarship, UBC for
$2,750 (2007)
PRESENTATIONS
The Centre for Molecular Medicine and Therapeutics TGIF
Series, September 2009, Vancouver (Canada) Seminar Presentation – “A mutation
screen of NR2E1 in patients with Aniridia and related eye disorders”
COURSES
MEDG 520: Advances in Human Molecular Genetics, Dr. Matthew
Lorincz
MEDG 530: Human Genetics, Dr. Lorne Clarke
MEDG 545: Current Topics in Medical Genetics Research, Dr.
Michael Kobor
NRSC 501: Neuroscience II, Dr. Nicholas Swindale
Adrienne Borrie Defense Programme - pdf