Day 2 and 3 of the SDS Congress were very scientific! Some data we cannot publish because the authors have not yet published! There are great things happening in Shwachman-=Diamond Research.
Wednesday begain with discussions on SBDS function. Most of it focused on the ribosomal subunits. The question, is SDS a ribosomopathy?, was the biggest topic of discussion on day 2 of the conference. 60 subunit biogenesis is affected. Researchers postulate that thee is an issue with making ribosomes and with their function.
The second part of the second day focused the function of SBDS in hematopoiesis and leukemia and we had the annual Jason Bennette memorial speaker who spoke about niche dynamics (the microenvironment of the marrow). The last part of the afternoon was dedicated to organ development and failure.
Vdac1 mitochondrial voltage gated anion channel. Thought to be a mito permeability pore. Do mito function properly in SDS? This was a question that was brought up.... and one I find interesting since my boys have been diagnosed with secondary Mitochondrial Disease.
A Doctor from Cambridge spoke and said that SDS is a disorder of ribosome maturation. This echoed earlier speakers.
Dr. Shimamura gave a talk on SBDS in ribosome biogenesis and mitotic spindle stabilization:
SBDS and mitosis. Increased incidence of abnormal mitotic cells. Cell eventually dies. Stabilization of spindles, improves hematopoiesis
We had a speaker who spoke about ADHD, but it was not specific to Shwachman-Diamond Syndrome or SDS studies. This was followed by several presenters who spoke about pancreas development with SBDS. Dr. Domain spoke about stem cell models of cardiac development and disease (not specific to SBDS). His presentation was excellent, even showed some of the cardiac stem cels in motion! Crontracting.
This morning (Thursday) we continued with organ development and failure. The focus was on skeletal defects and development of dysplasia.
Late morning discussions were aimed at using humn pluripotent stem cells in SDS, and the last speaker was Dr. de Figueiredo from Texas A & M and he spoke about the effects of HDAC inhibitors on disease models of Shwachman-Diamond Syndrome.
4% of population affected
skeletal variability is quite large.
infancy and childhood delayed appearance f ossification centers
mid childhood slow dev of ossification centers.