Mitochondria Disease Case Study
Susan was found to have a mitochondrial disease causing pathogenic variant in high levels m.3243A>G. m.3243 A>G is the most common heteroplasmic (see below) mtDNA disease genotype. The name m.3243 …
Course: Genomic Scenarios in Primary Care
Microarray Testing
You receive the attached letter about a young patient: Thank you for referring this 8-year-old girl who has diagnoses of autism and ADHD. She has undergone genomic screening for this …
Rare Disease Genetic Testing
Advances in genomic technologies coupled with national strategic transformation, means an increasing number of patients and families with rare diseases are receiving a ‘genomic’ diagnosis. Consequently GPs will see an …
Welcome to the course!
Hello and welcome. We are delighted that you have decided to learn with us and wish you a warm welcome. We are a team of five GPs, some with specialist …
Course overview and your educators on this course
Here is a short overview of the weeks ahead and the first opportunity for you to meet your educators Course overview Over the next three weeks you will be learning …
Prenatal Testing
The antenatal period is unique when the clinician is taking care of two patients, the mother and the unborn child. Although the transgenerational impact of genomics is common to many …
Pharmacogenomics
The use of genomics to guide pharmacological treatment is now routine in many areas of medicine from infectious disease to cancer treatment and general medicine. In infectious disease, treatment resistance …
Treatment targets, vaccine targets and delivery models
You will be aware that there has been a worldwide race to develop vaccines against COVID-19. There have been several different approaches taken but most use the coronavirus surface spike …
Surveillance – Microreact
The MicroReact website is a collaborative project funded by the Wellcome Trust which collects genetic information about pathogens spreading in the world and displays a timeline of the transmission events …
Lucy’s pregnancy
Lucy returns to see you 6 months later. Lucy and Lee didn’t attend their appointment with clinical genetics and haven’t had CF carrier testing. Lucy tells you she missed her …
Carrier testing
The national Genomic Testing Directory (GTD) includes CF carrier testing eligibility criteria in England, and who it can currently be requested by: clinical genetics, fetal medicine & gynaecology. Please consult …
Lucy and Lee
Lucy is 26 years old and comes to see you for preconception advice. She wonders if she has a chance of having a child with cystic fibrosis (CF) as her …
Management of Rare Diseases
Many rare disease treatments are at the cutting edge of therapeutic advances. Cystic Fibrosis There are four CFTR (cystic fibrosis transmembrane regulator) modulator drugs available. Each targeting only a proportion …
Reproductive choices for couples at risk
For couples like Lee and Lucy at risk of having a child affected by an autosomal recessive condition such as CF they have several options. These would be discussed at …
Surveillance: Nextstrain
Sequencing of pathogenic genomes can be used to track the spread of an outbreak across the world. The Nextstrain website provides an open access real-time snapshot of evolving pathogen populations …