These cases may indicate underlying monogenic disorders
as well as secondary causes.
While the role of genes in these rare monogenic disorders
is more clearly established, the contribution of a person's genetic make-up in determining the risk of sudden death due to the more common form of sudden death secondary to coronary artery disease is less clear.
However, unlike the rapid incorporation of aneuploidy detection into clinical practice, the application to monogenic disorders
is far more complex and has many obstacles to overcome.
Mendelian diseases are those caused by a single mutated gene and are also known as monogenic disorders
Named after Gregor Mendel, the 19th century researcher widely regarded as the founder of genetic science, Mendelian diseases or monogenic disorders
are those caused by a single mutated gene.
Partnership will focus on reproductive health, new born screening, autism, hereditary cancer, monogenic disorders
, and exome sequence-based personalised medical healthcare.
are further classified as autosomal dominant, autosomal recessive, sex linked recessive and dominant disorders.
usually cause severe dyslipidaemia.
However, with the increasing recognition that even simple monogenic disorders
often have a multiplicity of other interacting determinants that construct the final phenotype, such as modifier genes and environmental factors, it is apparent that single modality treatment is not the way that many of these conditions will be treated; rather, multiple treatment modalities will be used, sometimes from the time of diagnosis and in many instances there will be sequential use of different treatments as the individual ages and the phenotype morphs.
Drawn from material presented at the Novartis Foundation Symposium entitled "Decoding the Genomic Control of Immune Reactions" held in Canberra in March 2006, this collection covers transcriptional regulatory networks in macrophages, molecular pathways and their role in human disease, specifying the patterns of immune cell migration, human monogenic disorders
and their relationship with specific infections, the genetic control of susceptibility to a strain of tuberculosis, disorders resulting from defective LAT signalosomes, smallpox and mousepox, strategies for phenotype detection and subsequent mapping and cloning, genetic control of host-pathogen interactions, systems genetics, and regulation of the immune system.
Thus the number of monogenic disorders
is expected to increase.
The procedure, successfully used in this case, may also be applied to other monogenic disorders
and further supports the notion that [preimplantation genetic diagnosis] is destined to be an integral aspect of assisted reproductive technology," they concluded.
To date, underlying causative genes have been discovered for fewer than half of all monogenic disorders
, making the Clinical Diagnostic Exome a powerful tool to help diagnose affected patients whose conditions have eluded traditional diagnostic approaches.