https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2020/09/Parkinsons-blog.jpg 355 1078 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2020-09-10 13:04:262020-09-10 17:14:34Breakthrough in the battle against neurodegenerative disease
New genomic research could shed light on the cause of two life-limiting neurodegenerative conditions and provide targets for potential therapies and treatments
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2015/02/Data_ATCG_900px.jpg 300 900 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2020-08-12 13:23:272020-08-12 13:23:27What are copy number variants?
Everyone has unique variants in their genome - and many are harmless - but which types can have an impact on our health and how do they occur?
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2020/07/DNAsequence_1350x450.jpg 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2020-07-15 17:22:342020-07-15 17:22:34How NHS research is finding new ‘rare disease genes’
As whole genome sequencing becomes more accessible, our understanding of rare disease is advancing at speed. We look at the latest findings from two NHS studies.
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2020/05/exomesequencing_1350x450.jpg 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2020-05-28 14:10:352020-05-28 14:10:35Rapid exome sequencing: a look inside the lab
Clinical scientist Dr Julia Baptista explains what – and who – is involved when the NHS sequences the DNA from all an individual’s 20,000 protein-coding genes
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2020/01/Worried-patient-1350x450px.jpg 450 1350 Aine Kelly /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Aine Kelly2020-01-17 17:03:522020-05-22 16:20:00Direct-to-consumer testing: a clinician's guide
In the second of our articles this week on DTC genetic tests, guest author Dr Rachel Horton explains some of the common pitfalls and the key points clinicians need to know
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2020/01/saliva-test-tube-1350x450px.jpg 450 1350 Amelia McPherson /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Amelia McPherson2020-01-15 15:57:452020-06-08 17:00:42Consumer genetic testing: expectation and reality
In the first of two articles on the subject, we explore new research that shines a light on the pitfalls of our new favourite pastime
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2019/09/obesity-1.jpg 450 1350 Amelia McPherson /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Amelia McPherson2019-09-23 15:21:442019-10-23 12:01:51Obesity: is it in our genes?
A complex and serious issue, obesity is the result of a combination of factors; but at least some our destiny lies in our genomes
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2018/11/Pea-pod-strip-900px.jpg 300 900 GEP Admin /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png GEP Admin2018-11-19 17:00:182019-07-08 15:02:46Do our genes govern our fate?
A ‘faulty’ gene can result in different outcomes for different people – penetrance and expressivity influence the impact of our genetic code
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2018/10/ATCGs-487446069.jpg 239 700 GEP Admin /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png GEP Admin2018-10-08 15:53:202019-07-08 15:02:05Your invaluable genome
Genomic data is the currency of a new era of medicine that promises incredible advances. Here, bioinformatician Nana Mensah explains why
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2018/05/doctor-with-family.jpg 231 700 Charlotte Murray /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Charlotte Murray2018-05-07 08:47:412019-07-12 11:09:12Day in the life: consultant in clinical genetics
In this third piece in our series looking at genomics careers, Dr Andrew Douglas describes a profession at the cutting edge of healthcare
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2018/01/DNA-lightbulb-strip.jpg 231 700 Charlotte Murray /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Charlotte Murray2018-01-02 14:59:262019-07-12 11:44:04Genomics in 2018: 3 key predictions
We asked three wise men and women to tell us what they think 2018 will bring for genomics in healthcare
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2016/11/genomic_variation.jpg 355 1078 Charlotte Murray /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Charlotte Murray2016-11-25 11:23:502019-07-12 13:01:05The challenge of variant classification
Exploring the complex issue of interpretation - can updated standards and guidelines help achieve increased clarity and consistency?