Watch the video where Dr Evans interviews Dr Andrew Schaefer, a mitochondrial disease expert. Dr Schaefer is Consultant Neurologist and Adult Clinical Lead at Wellcome Centre for Mitochondrial Research in …
In the third part of the interview with Prof Qureshi, he covers polygenic risk scores, DTC testing, pharmacogenomics in the context of how management of genetic diseases is changing. Patients …
In the video, Prof Qureshi gives further detail of management of FH patients. The patient’s concerns: Azeeb is concerned about the diagnosis and the implications for family members. He is …
GP Dr Catherine Millington-Sanders asked her colleagues for examples of situations where genomics might be relevant to Primary Care. Dr Jude Hayward and Dr Imran Rafi suggest two common scenarios: …
In this video, Prof Nadeem Qureshi from the University of Nottingham explains diagnosis and case finding in FH. Patients may be identified through proactive case-finding within Primary Care, 2017 NICE …
Welcome to the third and final week of this course. We are going to discuss some of the latest genomic technologies and how they may influence primary care practice now …
Watch the second part of the interview with Dr English where he talks about using genomics to develop vaccines for difficult diseases including Covid-19. He also recounts tracking an outbreak …
The second part of our Week 3 course delves a little into the increasingly important ways that genomics is used within the field of infectious disease. Many of these are …
Historically when there was a high risk of a child being born with a genetic disease, the options for prenatal testing were both invasive: chorionic villus sampling (CVS) and amniocentesis. …
Welcome to week 2. This week we are going to explore Genomics in the context of Rare diseases. This may be for many GPs their principal exposure to Genomics. The …
Direct to consumer (DTC) kits are available to buy online. DTC online testing In general, these tests do not require any medical input or provide counselling to the purchaser as …
Safina has been referred to breast clinic and she has been looking further into her family history. My aunt (mother’s sister) died of cancer in her 50s but was very …
Safina has one female relative affected over the age of 40 with unilateral breast cancer. In the absence of any other family history, and if she has no Jewish Ashkenazi …
In order for us to understand the importance and purpose of taking a family history, we must understand the concept of multi-factorial inheritance. Many common chronic disorders follow this pattern …