Understanding abnormal eye development in Fraser syndrome
GR001661
17 February 2025
We are funding a PhD studentship in Professor Alison Hardcastle’s team to investigate the role of gene mutations in the abnormal eye development in Fraser syndrome.
The challenge
Fraser syndrome is a rare genetic disorder characterised by an abnormal development in the womb.
1 in 200,000 babies are born with Fraser syndrome
Eye defects are common in this condition, including anophthalmia (A, no eyes) and microphthalmia (M, abnormally small eyes).
What is Fraser syndrome?
Learn more
Fraser syndrome is a rare, genetic condition with the following, commonly observed characteristics:
- eyes that are completely covered by skin (cryptophthalmos) and usually malformed (microphthalmia/anophthalmia),
- fusion of the skin between the fingers and toes (cutaneous syndactyly),
- abnormalities of the genitalia and the urinary tract (genitourinary anomalies).
Other tissues and organs can also be affected. Depending on the severity of the symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood.
Two genes, FREM2 and GRIP1, are linked to anophthalmia or microphthalmia (A/M) outcome in children with Fraser syndrome. The A/M phenotype has also been observed in the zebrafish model when these two genes are knocked out.
What is a phenotype?
Learn more
The physical, biochemical, and behavioural characteristics that can be observed in a person, for example height, eye colour, hair colour, blood type and the presence of certain diseases. A phenotype is based on a person’s genes, how they are expressed and some environmental factors, such as diet, exercise.
The mechanism of how these genes lead to A/M is poorly understood.
Finding a solution
In this project, the PhD student Mara Ioana Maftei will work under Professor Hardcastle and Dr Rodrigo Young’s supervision to investigate the molecular and cellular function of FREM2 and GRIP1 genes.
Mara Ioana Maftei, PhD student
I chose to pursue a PhD to maximize my growth as a researcher and nurture my passion for science. My work focuses on understanding the genetics and mechanisms behind early eye development, specifically why some individuals are born with small eyes or no eyes at all.
Mara
Mara will explore how these two genes affect different stages of eye development, especially formation and size of the eyeball.
The potential
Learning about the function of FREM2 and GRIP1 genes during eye formation will further our understanding of the mechanisms that control eye development.
This could accelerate progress in genetic screening, therapy and prevention.
These mechanisms could also be applied to advance the knowledge on the effects of mutations in FREM2 and GRIP1 genes on other parts of the body, expanding the impact of this research and our funding.
I am incredibly grateful for the MEC studentship, as it has provided me this opportunity to develop and refine my skills while collaborating with others. So far, the PhD has been both challenging and deeply rewarding, especially considering the real-world impact of this project.
Mara
During this PhD project, Mara Ioana Maftei will be expertly trained, setting her up for a promising career in scientific research.
Project Details
PhD studentship
Professor Alison Hardcastle
Genetics/inherited eye disorders
£125,000
September 2024
GR001661
