Amber Condell

Clinical Bioinformatician
Canberra Clinical Genomics;
and Master of Diagnostic Genomics student (2022/23)
Queensland University of Technology

Canberra, ACT

Contact me for

  • Outreach activities
  • Conference presenting
  • Opportunities to collaborate

Expertise

Biography

As an enthusiastic "DNA detective", my passion is searching the deep depths of the genome to assist patients seeking genetic diagnoses for their clinical conditions.

I am passionate about clinical genomic variant curation and the bioinformatic interpretation of genetic sequencing data relating to health and human disorders. I am particularly interested in the genomic analysis of neurodevelopmental disorders (NDDs).

I openly identify as a queer transmasc person (they/them pronouns). I also live with the classic subtype of Ehlers-Danlos syndrome (cEDS), which sparked my passion for genetics from an early age.

Amber identifies as having a disability,lgbtqia+ and neurodiverse.

Featured

2023

[Coming soon!] HGSA Australasian Society of Diagnostic Genomics (ASDG) ACT/TAS State Meeting: "A case of ADA2 variant homozygosity: how whole exome sequencing can consolidate clinical constellations and bring closure to arduous diagnostic odysseys"

2023

Marching with Queers In Science (QiS) and the CSIRO at World Pride Mardi Gras 2023! 🌈 ((#WorldPride #CSIROPride #GeekOut!!))

2023

Rare Disease Day Parliamentary Event 2023 - Representative for Ehlers-Danlos syndrome

2021

Human Genetics Society of Australasia (HGSA) conference presentation: "Novel gene discovery for individuals with Rett syndrome and related neurodevelopmental disorders"
Media article

2020

My journey studying genetics and living with Ehlers-Danlos syndrome (click here!)