Call for applications for a fully financed PhD fellowship
Sex chromosome aneuploidies (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes. The most frequent SCAs include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Trisomy X syndrome (47,XXX) and Double Y syndrome (47,XYY). Patients with SCAs suffer from a range of diseases and conditions resulting in increased morbidity and mortality.
Prenatal development and early childhood are critical periods for establishing the tissue-specific epigenome, and have a profound impact on health and disease in early life and later in life through epigenetic gene regulation. However, the epigenetic profile and epigenetic gene regulation at birth and in early childhood in SCAs remain unexplored.
The purpose of this project is to comprehensively examine the epigenomic and genomic natural history of sex chromosome aneuploidies by deciphering the spatiotemporal epigenomic and genomic dynamics and its relation to the phenotype in fetuses and children with SCAs.
In work package 1, we will collect tissue samples from multiple organs from elective aborted fetuses with SCA in connection with autopsy. Samples will be used for genetic analysis such as single cell RNA sequencing, spatial transcriptomics, Whole Genome Bisulfite Sequencing and RNA sequencing. Clinical data of the fetus and pregnancy will be collected.
Work package 2 is a longitudinal follow-up study were we will follow fetuses with SCA from gestational week 24 to birth. After birth, we will follow the children through early childhood (from birth to age 3 years). We will perform comprehensive clinical examination of the fetuses and children including MR-imaging, ultrasound examination, body composition quantification and neurodevelopmental assessment. Tissue samples (blood, buccal swabs, urine, stool) will be collected at each visit.
Medical doctor with fluency in Danish in order to communicate with patients.
Please submit your application via this link. Application deadline is 31 January 2025 23:59 CET. Preferred starting date is 1 March 2025.
For information about application requirements and mandatory attachments, please see our application guide.
Please contact Clinical Associate Professor Anne Skakkebæk, asj@clin.au.dk, for more information.
All interested candidates are encouraged to apply, regardless of their personal background. Salary and terms of employment are in accordance with applicable collective agreement.
