Finding non-standard causes of monogenic disorders

Finding non-standard causes of monogenic disorders

Project details

The Bahlo lab has identified more than 20 variants in genes that cause highly penetrant human diseases such as epilepsy, ataxia and mitochondrial disorders. Despite these successes many families with inherited disorders remain unsolved. 

This PhD project will look at non-standard causes of disease in unsolved families in the lab. There are several potential avenues to explore, with the project exploring one, or even several. The lab is interested in repeat expansion disorders. Another avenue is the search for somatic mutations, including copy number variations (CNVs). 

The project will also make use of data from more than one source of next-generation sequencing such as MIPS, PacBio and cfDNA. The student will learn about NGS pipelines and genetics and should have strong bioinformatics skills with an emphasis on numerical/statistical skills.

 

About our research group

The Bahlo lab is a statistical genetics dry lab focused on the analysis of genomic data for both neurogenetics and infectious diseases. The lab has a strong track record in analysis of genomic and transcriptomic data as well as methods development of techniques to facilitate these analyses. It has developed software packages and web-tools.

The lab is vibrant with regular social outings and a fortnightly lab meeting. Presentation and attendance at conferences is encouraged. The lab has about 10 staff and students with four current PhD students and several Masters students.

Researchers:

Professor Melanie Bahlo

Melanie Bahlo
Professor
Melanie
Bahlo
Joint Division Head

Project Type: