Ambry Genetics Leads in Clinical Contributions to GenCC, a Public Database to Inform the Relationship Between Various Genes and Diseases
"We know our contribution to this data is vital in providing the right diagnosis to healthcare providers and their patients," said Tom Schoenherr, Chief Executive Officer at Ambry Genetics.
- "We know our contribution to this data is vital in providing the right diagnosis to healthcare providers and their patients," said Tom Schoenherr, Chief Executive Officer at Ambry Genetics.
- "In addition, these advancements will assist in shaping our technological platforms CARE and LATTICE by providing relevant data to make informed healthcare and therapy decisions.
- Ambry has pioneered the discovery of several gene-disease relationships, including the KCNN2 gene.
- These gene mutations are now known to cause a KCNN2-related neurodevelopmental disorder which commonly presents with tremor and extrapyramidal movements.