The advancement of research is an important part of diagnosing and understanding Kabuki syndrome. Alhough KSN has worked in concert with past studies, we have not yet actively raised funds in support of research projects. We would like to encourage anyone who is interested in setting up a research foundation to contact KSN.
An indepth study of 81 individuals with a clinical diagnosis of Kabuki. Clinical comparisons were made between various groups - MLL2 positive and negative groups, MLL2 and KDM6A groups, and MLL2 truncating and non-truncating types.
Approximately 75% of individuals with a clinical diagnosis of Kabuki are caused by an MLL2 mutation. According to a study published in July 2011 the presenting characteristics of MLL2 mutation-positive cases did not differ greatly from the MLL2 mutation-negative cases. the one exception being that renal anomalies were more common in the mutation-positive group.
Facial Dysmorphology Novel Analysis (FDNA) is a company that uses face-recognition software to detect syndromes that have a distinct facial gestalt by analyzing 2D facial photos. They will provide a simple free downloadable mobile application that can be used in the clinical settings by health professionals.
The human body has many different
cells yet they all share identical information content. The human genome (the
book of life), which is the encyclopedia of all the machinery in all the cells
has about 20000 genes (words). How does a cell decide which genes (words) to
use at a specific time? One way is through the use of epigenetics. Epigenetic
modifications sit close to the genes (words) they affect and thereby
essentially highlight (or strikethrough) the genes (words) that should be used
by that cell type at that time.