Participant stories
Participants share their stories on how genomic testing and medicine impacted their lives, including what getting a diagnosis meant for them.
Explore the latest participant stories
Marnie: No condition suspected
Primary ciliary dyskinesia (PCD)
Lucia: Hao Fountain Syndrome
Safi: Isolated growth hormone deficiency
Freddie: Retinoblastoma
Noah: RNU5B-1-related disorder
Kayla: ReNU syndrome
Arabella: ReNU syndrome
Clarissa: Marfan Syndrome
Tabby: TANGO2 deficiency disorder
Frances: High grade serous ovarian cancer
Mel: DHDDS variant
Amelia: Syndromes without a Name
Dave: Microphthalmia
Oscar and Mary: Rett syndrome
Rebecca: Hereditary brain aneurysms
Kirsty: Okur-Chung neurodevelopmental syndrome
Jayne: BRCA2 gene change
Joey: DYRK1A syndrome
Bhavini: Retinitis pigmentosa
Sol: Retinitis pigmentosa
Noah: de novo variant in the FOXP4 gene
Kevin: Retinitis pigmentosa and possible Usher syndrome
Owen: Resistance to Thyroid Hormone Alpha
Rachel G: Sarcoma
Chris Martin: Sarcoma
Kaleb Smith: Fragile X
Alan Bentley: Olmsted Syndrome
George: NEDHAHM
Helen: Ectodermal Dysplasia
Jessica's story
The Lloyd sisters: Breast cancer
Jennifer: Multiple melanomas
Tom Baker: Pachyonychia Congenita
