New legal model suggested for DNA samples given to biobanks
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 137 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
✦ Synopsis
According to Dr. Conway, among the defects future research may inform is cutis marmorata telangiectatica congenita (CMTC), a vascular skin condition involving dilation and prominence of capillaries and small veins. "There are patients with AOS who have CMTC. But there are CMTC patients with no scalp or extremity defects. One wonders: Might some genes in this pathway potentially cause CMTC?" he says.
According to Drs. Trembath and Conway, the pathway's potential aside, confirmation of AHRGAP31's role in AOS has more direct benefits to patients and families. Both say it allows clinicians to give more explanatory detail when counseling affected families. The finding will also help clinicians increase the number of families participating in candidate AOS gene studies, Dr. Conway says.
More immediately, clinicians can offer tests for the AHRGAP31 gene mutation to other family members to determine if they can pass on the gene, Dr. Trembath adds. "For a small number of families, it can be a diagnostic test," he says.