ABSTRACT
BIOGRAPHICAL NOTES
Introduction: Global prevalence estimates for Huntington Disease (HD) vary widely,
Born:
July, 16, 1987, Vancouver, BC
Academic Studies:
B. Sc. (honours) Queen’s University, 2009
Current Position:
MSc candidate, UBC
and those cited for Canada are outdated and not specific to British Columbia (BC).
The most recent incidence calculation was performed in BC and includes diagnoses
only up to the year 1999. Reports on the population at risk in Canada are based on
theories and estimates that do not pertain to any particular population. Despite the
presence of an extensive laboratory and clinical research hub in this province, a
Calculate the incidence of HD in BC from January 1, 2001- December 31, 2011; and
(500 level and above – for example:)
Course
Course Title
MEDG 545
Journal club
MEDG 520
Advances in Human Molecular Genetics
MEDG 530
Human Genetics
MEDG 505
Genome Analysis
3) Calculate the minimum population at risk for HD in BC on April 1, 2012.
MEDG 548
comprehensive epidemiological study of the prevalence, incidence and population at
risk for HD has never been assessed. As such, the specific objectives of this study
were to: 1) Calculate the minimum prevalence of HD in BC on April 1, 2012; 2)
Directed Studies
Course Co-ordinator
Dr. Jan Friedman
Dr. Matthew Lorincz
Dr. Jan Friedman
Dr. Hieter, Dr. Jones, Dr.
Rose
Dr. Michael Hayden
Methods: A comprehensive province-wide assessment of the HD patient population
and the population at risk was conducted using multiple sources of ascertainment
AWARDS: Cure Huntington’s Disease Initiative (CHDI) research grant
including: UBC HD clinic records, hospital and physician records, DNA diagnostic lab
reports, the HD research lab at the Centre for Molecular Medicine and Therapeutics
(CMMT), nursing homes, The Huntington Society of Canada and HD community
PUBLICATIONS
Fisher E. “Exploring the genetic origins of Treacher Collins syndrome”, Clinical
Genetics, 2011. (79):330-332
members.
Results: The minimum prevalence of HD in BC was estimated at 12.5 - 14.9/100,000
Fisher E. “A specific subtype of infantile Parkonsonism-dystonia identified”, Clinical
Genetics. 2011. (79):332-334
(95% CI: 11.5-16.0), the incidence, 7.2 per million/year (95% CI: 6.5-7.9), and the
minimum population at risk: 1/1,064 (95% CI: 1/1,941 - 1/2,107).
Fisher E. “A step forward on the path towards understanding osteoporosis”, Clinical
Genetics. 2011. (80):136-137
Conclusions: The prevalence of HD is more than twice as high as suggested by a
previous Canadian report. This study comprised the most thorough HD patient
ascertainment study since the advent of direct mutation testing and may set a
precedent for future prevalence studies. Incidence has remained the same since
1999 and BC is only the fourth region in the world to provide a direct estimate of the
PRESENTATIONS
UBC Medical Genetics research day: 2009, 2010, 2011
World Congress on Huntington’s Disease, Vancouver: 2009
Educational seminar to nursing staff at Evergreen Hamlets nursing home: 2011
Exit seminar (TGIF): 2012
population at risk for HD.
SUPERVISORY COMMITTEE
Dr Michael Hayden, Susan Creighton and Dr. Jan Friedman
THE UNIVERSITY OF BRITISH COLUMBIA
PROGRAMME
The Final Oral Examination
For the Degree of
MASTER’S OF SCIENCE
(Medical Genetics)
EMILY RACHEL FISHER
BSc. (Honours), Queen’s University, 2009
Monday, May 28, 2012, 8:00 am
th
3027, CMMT, 950 W. 28 Ave, Vancouver
“The Epidemiology of Huntington Disease in British Columbia”
EXAMINING COMMITTEE
Chair:
Dr. Blair Levitt (Medical Genetics)
Supervisory Committee:
Dr. Michael Hayden, Research Supervisor (Medical Genetics)
Susan Creighton (Medical Genetics)
University Examiner:
Dr. Susan Cox (Sociology)