Medical articles of Genetic disorders

12/02/2025
Dr Kausar Jabeen
Fertility Specialist
Prenatal testing: What are your options?
Prenatal testing plays a key role in monitoring the health of both the mother and the baby throughout pregnancy, ensuring that any potential complications are identified early on. This article underlines the different types of prenatal tests, when they are performed, and what happens if a prenatal test reveals an abnormal result.
04/12/2024
Dr Justin Chu
Fertility Specialist
Genetic disorders: Screening and management
Genetic disorders are conditions caused by abnormalities in a person’s DNA that often arise when both parents carry a mutation in the same gene. While many people carry genes linked to certain disorders without experiencing symptoms, these genes can be passed on to their children. Dr Justin Chu, TFP Oxford Fertility Medical Director, underlines the importance of genetic screening, the available tests, and how fertility treatments like IVF can manage genetic risks.
17/10/2024
Mr Gregory Firth
Paediatric Orthopaedic Surgeon
All about osteogenesis imperfecta in children
Osteogenesis imperfecta (OI), or brittle bone disease, is a genetic disorder in children that causes fragile bones, making them susceptible to fractures with minimal trauma.
- More articles from this doctor
20/08/2020
Dr Melita Irving
Clinical Geneticist
Prenatal screening tests: are they accurate?
Genetic screening is designed to give reassurance to those hoping to have a child. Unlike genetic testing, genetic screening is done 'blind' and without any indication of a potential genetic disorder being passed to a child. Clinical geneticist Dr Melita Irving explains prenatal screening and clarifies it's accuracy.
- More articles from this doctor
11/05/2020
Professor James Bainbridge
Ophthalmologist
Luxturna gene therapy for reversing sight loss
Luxturna is a recently developed gene therapy that has the ability to revert vision loss caused by mutations to the RPE64 gene. It's the first of a new generation of treatments for sight impairments and Professor James Bainbridge explains how this innovative treatment works.
- More articles from this doctor
27/02/2018
Dr Melita Irving
Clinical Geneticist
Research and advances in skeletal dysplasia management: Rare Disease Day 2018
Rare Disease Day takes place on the last day of February every year, with the goal of raising awareness of rare diseases. Dr Irving is a clinical geneticist with a specialist interest in skeletal dysplasia. Here, in an interview with Guy’s and St Thomas’, she explains what her research involves.
- More articles from this doctor
26/07/2017
Dr Melita Irving
Clinical Geneticist
What kind of work does a clinical geneticist do?
Dr Melita Irving is a clinical geneticist. Here, she explains to Top Doctors what she does & which type of patients she is able to help.
- More articles from this doctor