Emerging role of digenic or pseudo-digenic inheritance models in Mendelian diseases: implication of hypomorphic variants in Noonan syndrome’s pathogenetic mechanisms and in RAS pathway deregulation

10 May 2024
Job Information

Organisation/Company

Università degli Studi di Brescia

Research Field

Biological sciences

Researcher Profile

Recognised Researcher (R2)
Leading Researcher (R4)
First Stage Researcher (R1)
Established Researcher (R3)

Country

Italy

Application Deadline

24 May 2024 - 23:59 (UTC)

Type of Contract

To be defined

Job Status

Not Applicable

Is the job funded through the EU Research Framework Programme?

Not funded by an EU programme

Is the Job related to staff position within a Research Infrastructure?

No

Offer Description

The research project aims to assess the role of putative hypomorphic variants and a potential digenic
inheritance model in the pathogenetic mechanisms of Noonan syndrome (NS). The study originates from the
identification of heterozygous variants in two NS families within the genes LRP1 and SOS1 (Family 1) and RAF1 and SOS1 (Family 2), and involves analyses on cellular and animal models, as well as "Omics"
investigations. RNA corresponding to the human alleles carrying one or both of the identified mutations in Families 1 and 2 will be transiently expressed in zebrafish embryos to mimic a digenic inheritance situation in the animal model and evaluate the potential development of an NS phenotype (extension of the body axis,presence of craniofacial, ocular, vascular, cardiac, muscular, movement, and behavioral alterations). Animal models will undergo drug treatments to assess any potential improvement in the phenotype

Requirements
Additional Information
Eligibility criteria

Eligible destination country/ies for fellows:

• Italy

Eligibility of fellows: country/ies of residence:

• EUROPE

Eligibility of fellows: nationality/ies:

• EUROPE

Website for additional job details

https://www.unibs.it/it/ateneo/amministrazione/concorsi/procedure-di-reclutamen…

Work Location(s)

Number of offers available

1

Company/Institute

Università degli Studi di Brescia

Country

Italy

Geofield

Where to apply

Website

https://www.unibs.it/it/ateneo/amministrazione/concorsi/procedure-di-reclutamen…

Contact

City

Brescia

Website

https://www.unibs.it

STATUS: EXPIRED