Defining the origin of multilocus imprinting disturbance (MLID)

An association between assisted reproductive technologies (ART) and an increased risk of congenital imprinting disorders was first described more than 20 years ago but the causes of the association have not been resolved.  Recent research that ART not only predisposes to some imprinting disorders but also to multilocus imprinting disturbance (MLID). Genetic causes of MLID include both recessively inherited disorders and maternal effect genes. We propose to investigate potential environmental (ART) and genetic interactions in the aetiology of MLID by investigating individuals with imprinting disorders associated with MLID. This project involves characterising detailed DNA methylation profiles and candidate germline variants in epigenetic regulator genes in individuals with MLID.

References

Ochoa E et al. Germline variants in UHRF1 are associated with multilocus

imprinting disturbance in humans and mice. Proc Natl Acad Sci U S A. 2025

Aug 26;122(34):e2505884122.

Bilo L et al. Molecular characterisation of 36 multilocus imprinting disturbance

(MLID) patients: a comprehensive approach. Clin Epigenetics. 2023;15(1):35.

Ochoa E et al. ImprintSeq, a novel tool to interrogate DNA methylation at

human imprinted regions and diagnose multilocus imprinting disturbance.

Genet Med. 2022; 24:463-474.

Monk D et al. Genomic imprinting disorders: lessons on how genome,

epigenome and environment interact. Nat Rev Genet 2019; 20:235-248.

Candidates should have been awarded, or expect to achieve, EITHER:

a] a First or Upper Second Class award in their Undergraduate Degree (Bachelors or UG Masters) from a UK institution, in a subject judged by Aston to be relevant to the proposed research.

OR

b] a Merit (or above)* in a Postgraduate Masters degree in a relevant subject AND an Undergraduate Degree (Bachelors or UG Masters), both from UK institutions.

*where appropriate.

Qualifications from overseas institutions will be also considered but performance must be equivalent to that described above, and the University reserves the right to ascertain this equivalence according to its own criteria.

Financial Support

This project covers the Home tuition fees. Candidates who do not have Home status will be responsible for the difference in tuition fees. Currently, the difference between ‘Home’ and the ‘Overseas’ tuition fees is £17,712 for 2026/7.  

Overseas Applicants

Overseas applicants may apply for this studentship but will need to pay the difference between the ‘Home’ and the ‘Overseas’ tuition fees. Currently, the difference between ‘Home’ and the ‘Overseas’ tuition fees is £17,712 for 2026/7. As part of the application, you will be required to confirm that you will provide this additional funding. Please indicate this on the application form in the funding section.
 

Apply through our PhD application form.

When applying:

• For University College, please select Health and Life Sciences
• For Degree Programme, please select Research Health Sciences (including Optometry, Pharmacy, and Psychology Research Areas) and your preferred entry date.

Apply now

If you require further information about the application process please contact the Postgraduate Admissions team at pgr_admissions@aston.ac.uk

Supervisor: Professor Eamonn Maher

Associate Supervisor: Dr Sunwoo ‘Liv’ Lee and Dr Mohammed ‘Mo’ Elasrag

Contact information

For formal enquiries about this project contact Professor Eamonn Maher at e.maher@aston.ac.uk

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