Methylmalonic acidemia & propionic acidemia (MMA/PA)

Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare, autosomal recessive, multisystemic inborn errors of branched chain amino acid metabolism which cause significant morbidity and mortality in infancy and childhood, and, for survivors, significant debilitating end-organ damage into adulthood.

McCune-Albright syndrome (MAS)

Rare congenital sporadic disorder defined by the triad of polyostotic fibrous dysplasia of bone (FD), café au lait skin pigmentation, and peripheral precocious puberty (PP).

Ciliopathies

Genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium–centrosome complex. Physiology Cilia structure: Cilia are hair-like organelles projecting from the apical surface of polarized cells. Whether in single-celled organisms or in mammals, the form and function of cilia have been conserved over the course of…

Methicillin-resistant Staphylococcus aureus (MRSA)

Staphylococcus aureus strain resistant to methicillin and other β-lactam antibiotics and one of the leading causes of hospital-acquired infections.