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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GJB2
Variants in GJB2 (gap junction beta 2) have been reported to be diagnostic for 22 patients across the CRDC.
MYO7A
Variants in MYO7A (myosin VIIA) have been reported to be diagnostic for 8 patients across the CRDC.
SCN1A
Variants in SCN1A (sodium channel protein type 1 subunit alpha) have been reported to be diagnostic for 8 patients across the CRDC.
SLC26A4
Variants in SLC26A4 (solute carrier family 26 member 4) have been reported to be diagnostic for 8 patients across the CRDC.
STRC
Variants in STRC (stereocilin) have been reported to be diagnostic for 8 patients across the CRDC.
PRRT2
Variants in PRRT2 (proline-rich transmembrane protein 2) have been reported to be diagnostic for 6 patients across the CRDC.
COL11A1
Variants in COL11A1 (collagen type XI alpha 1 chain) have been reported to be diagnostic for 5 patients across the CRDC.
TMPRSS3
Variants in TMPRSS3 (transmembrane serine protease 3) have been reported to be diagnostic for 5 patients across the CRDC.
PAX3
Variants in PAX3 (paired box gene 3) have been reported to be diagnostic for 4 patients across the CRDC.
ADGRV1
Variants in ADGRV1 (adhesion G protein-coupled receptor V1) have been reported to be diagnostic for 3 patients across the CRDC.
CFTR
Variants in CFTR (CF transmembrane conductance regulator) have been reported to be diagnostic for 3 patients across the CRDC.
COL2A1
Variants in COL2A1 (collagen type II alpha 1 chain) have been reported to be diagnostic for 3 patients across the CRDC.
SOCS1
Variants in SOCS1 (suppressor of cytokine signaling 1) have been reported to be diagnostic for 3 patients across the CRDC.
TTC7A
Variants in TTC7A (tetratricopeptide repeat domain 7A) have been reported to be diagnostic for 3 patients across the CRDC.
USH2A
Variants in USH2A (usherin) have been reported to be diagnostic for 3 patients across the CRDC.