Participant stories
Participants share their stories on how genomic testing and medicine impacted their lives, including what getting a diagnosis meant for them.
The life-changing impact of genomic medicine
Watch this video on Jessica – one of the first children to be diagnosed in the 100,000 Genomes Project – and how genomic medicine narrowed her diagnosis from 6.4 million possible variants to one.
Explore the latest participant stories
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
