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. |
| Phone | 08 6457 2866 |
Dr Jennifer Thompson
| Related Patient Support Organisations | 46 |
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