Overview
The Children's Rare Disease Collaborative (CRDC) at Boston Children's Hospital fuels genomics research around 52 rare disease cohorts to expedite pediatric precision medicine. The information gathered supports our internal and collaborative research projects and, under certain circumstances, the data also can inform clinical treatment of participating families. Enrollment and sample collection can be completed from the comfort of your home.
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Variants in GJB2 (gap junction beta 2) have been reported to be diagnostic for 22 patients across the CRDC.
Variants in MYO7A (myosin VIIA) have been reported to be diagnostic for 8 patients across the CRDC.
Variants in SCN1A (sodium channel protein type 1 subunit alpha) have been reported to be diagnostic for 8 patients across the CRDC.
Variants in SLC26A4 (solute carrier family 26 member 4) have been reported to be diagnostic for 8 patients across the CRDC.
Variants in STRC (stereocilin) have been reported to be diagnostic for 8 patients across the CRDC.
Variants in PRRT2 (proline-rich transmembrane protein 2) have been reported to be diagnostic for 6 patients across the CRDC.
Variants in COL11A1 (collagen type XI alpha 1 chain) have been reported to be diagnostic for 5 patients across the CRDC.
Variants in TMPRSS3 (transmembrane serine protease 3) have been reported to be diagnostic for 5 patients across the CRDC.
Variants in PAX3 (paired box gene 3) have been reported to be diagnostic for 4 patients across the CRDC.
Variants in ADGRV1 (adhesion G protein-coupled receptor V1) have been reported to be diagnostic for 3 patients across the CRDC.
Variants in CFTR (CF transmembrane conductance regulator) have been reported to be diagnostic for 3 patients across the CRDC.
Variants in COL2A1 (collagen type II alpha 1 chain) have been reported to be diagnostic for 3 patients across the CRDC.
Variants in SOCS1 (suppressor of cytokine signaling 1) have been reported to be diagnostic for 3 patients across the CRDC.
Variants in TTC7A (tetratricopeptide repeat domain 7A) have been reported to be diagnostic for 3 patients across the CRDC.
Variants in USH2A (usherin) have been reported to be diagnostic for 3 patients across the CRDC.