Dr Jennifer Thompson

Profession

Medical Scientist (Genetics)

Job Title Medical Scientist
Organisation Name Sir Charles Gairdner Hospital
Areas of Special Interest

Genetics of inherited retinal disease

Adults or Children Adults and Children
Telehealth consults Not available
Transitional Planning – Paediatric to adult services null
Additional Information

I am an associate investigator for the Australian Inherited Retinal Disease Registry and DNA Bank. This resource currently contains information and DNA for 6000 participants affected with an inherited retinal disease or their family members. We are systematically establishing the genetic cause of disease in our participants as a research activity (not as a clinical service). We have genetically tested 2000 DNA samples to date, and have established the pathogenic variant(s) in many of our participants. This information can be shared with other health professionals, subject to written consent from the participant. My area of expertise is in the assessment of pathogenicity of variants established in the DNA of participants affected with an inherited retinal disease.

Email

jennifer.thompson3@health.wa.gov.au

Phone 08 6457 2866

Dr Jennifer Thompson

is prepared to be contacted by other Health Professionals
Related Patient Support Organisations

46

For links to online portals that provide information on rare diseases including definitions, causes, treatments, and publications for patients, families and professionals in the field. Please see our conditions page.