Angelo Condell

Clinical Bioinformatician
Canberra Clinical Genomics

Canberra, ACT

Contact me for

  • Mentoring
  • Sitting on boards or committees
  • Providing an expert opinion
  • 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) and inherited cardiac conditions (ICCs).

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

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

Featured

Award

2024

Karen Snow-Bailey Award: Best ASDG Oral Presentation at the HGSA 47th Annual Scientific Meeting: "Twin Masts in the DNA Ocean End a Long Diagnostic Odyssey: The Benefits of Genetic Re-Analysis for Neurodevelopmental Disorders"
Academic paper

2023

'Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes' (contributions to cohort)

2023

"In Our Genes, In Our Hearts" - Roundable speaker at the multidisciplinary 'Hearts in and out of Crisis' symposium

2023

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!)