National Human Genome Research Institute, NIH
Bethesda, MD, USA
Dr. David Adams is a pediatrician and medical geneticist working in the NIH Intramural National Human Genome Research Institute. He has been pursuing clinical research related to oculocutaneous albinism (OCA) since 2006, most recently with Dr. Stacie Loftus. He conducted an OCA natural history study from 2009 – 2019, evaluating 135 affected individuals along with available family members. He worked with Dr. Brian Brooks to conduct a pilot study to gather preliminary data about the utility of nitisinone as an OCA treatment. Since that time, he has been focusing on the genetics of OCA and related conditions. OCA is associated with significant missing heritability; approximately 50% of persons with residual pigment production fail to be molecularly diagnosed with current standard of care testing. Dr. Adams works with materials provided by the natural history study participants, along with donated materials from other studies, to uncover additional mechanisms that will explain this missing heritability. These studies include the development of new approaches to understand the consequences of changes in albinism genes, at a cellular level. In addition, he is working with a panel of international experts to refine the clinical criteria used to assess variants in albinism genes.