PIPGEN - PhD Project 3: Improving recognition of patients with PHTS phenotypes by easy-to-apply sets of clinical criteria.
Research · Radboud University Nijmegen Medical Centre > Netherlands
RESEARCH PROFILE: First Stage Researcher (R1)
APPLICATION DEADLINE: 27 June 2021
EU RESEARCH FRAMEWORK PROGRAME: HORIZON 2020
MARIE SKOLODOWSKA CURIE GRANT AGREEMENT NUMBER: 955534
 First Stage Researcher (R1) PhD candidate or equivalent. Early stage researcher with less than 4 years FTE research experience.
PhD Project details
PTEN Hamartoma Tumour Syndrome (PHTS) is a rare genetic predisposition that results in a broad spectrum of diseases. Most of these disesase are on their own common in the general population which hampers recognition of these rare PHTS patients. In addtion, each disease expression of PHTS is diagnosed by different health care disciplines and at different ages, such as skin lesions (dermatologist), vascular malformation (radiologist), developmental delay (neurology), an enlarged thyroid (endocrinologist) or breast cancer (oncologist/surgeon). We will determine easy-to-apply sets of clinical criteria that can be assessed by each healthcare provider who diagnoses a common feature of PHTS. In a large cohort of PHTS patients and PTEN-negative control patients extended clinical characteristics will be collected and assessed. The best performing clinical criteria will be assessed for futher implementation.
Host: Radboud university medical centre, NL.
Supervisor: Prof. Dr. Nicoline Hoogerbrugge
Doctoral programme: Radboud University Nijmegen The Netherlands.
Envisioned secondments: Gqenomics, cic-BIOgune.
Position requirements: epidemiological and (bio)medical background, and understanding written Dutch is required.