My research involves clinical management of children with Smith-Lemli-Opitz Syndrome. I have a new small grant from the NIH to look at adding Cholic acid to the treatment regimen which will begin in 2021.
I have developed a new center for caring for patients with EDS, and there will be research efforts associated with this work.
For Referring Providers:
My research involves clinical management of children with Smith-Lemli-Opitz Syndrome.
I participated in a CDC funded project called SEED, which evaluated dysmorphic features in patients with autism. Several papers from the analyses of this study were published in 2020.
I am collaborating with Dr Dennis Roop at the Gates center for Regenerative Medicine, on a project looking at Ehlers-Danlos syndrome.