Menu
Chromosomal conditions are caused by changes in the number or structure of chromosomes. It is estimated that 1 in 150 babies is born with a chromosomal condition, and each child is different.1 Some children with chromosomal disorders may have intellectual disabilities and/or birth defects and some may have no serious problems, depending on which chromosomes are affected and how.
This year we are spreading awareness of Rare Chromosome Disorders and celebrating the unique children and adults with these disorders through our fun quiz. Give it a try and test your knowledge!
Our team at SOPHiA GENETICS continue to support the management of the full spectrum of rare and inherited diseases by advancing data-driven medicine.
1. March of Dimes, Chromosomal conditions. Accessed June 2022.
Every year, patients, caregivers, clinicians, and researchers celebrate Rare Disease Day on February 28th. Our team at SOPHiA GENETICS continues to support the management of rare and inherited diseases by advancing data-driven medicine.
The winner of this year’s Rare Disease Day quiz is Maria Teresa Bochicchio at IRCCS - Istituto Romagnolo per lo Studio dei Tumori "Dino Amadori" – IRST, Meldola, Italy!
Maria Teresa chose to donate the $500 prize to Genetic Alliance UK.
Thank you Maria Teresa, and thank you to everyone who took part in Rare Disease Day 2022.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.
All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.