Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Background: Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adult Undiagnosed Disease Program (AHA-UDP) was designed to complement existing UDP programs that focus on paediatric rare diseases and address an area of unmet diagnostic need for adults with undiagnosed rare conditions in Victoria, Australia. It was conducted at a large Victorian hospital to demonstrate the benefits of bringing genomic techniques currently used predominantly in a research setting into hospital clinical practice, and identify the benefits of enrolling adults with undiagnosed rare diseases into a UDP program.

Case fatality rates of invasive meningococcal disease by serogroup and age: A systematic review and meta-analysis.

Introduction: Invasive meningococcal disease (IMD) is uncommon but still causes considerable public health burden due to its high mortality and morbidity. This review aims to quantitatively synthesise all published evidence pertinent to mortality caused by IMD and assess the effect of age and serogroup on case fatality rates (CFRs).

Methods: The PubMed and Embase databases, and the Cochrane Library were searched.

Costs of Invasive Meningococcal Disease: A Global Systematic Review.

Background: Invasive meningococcal disease remains a public health concern because of its rapid onset and significant risk of death and long-term disability. New meningococcal serogroup B and combination serogroup ACWY vaccines are being considered for publicly funded immunization programs in many countries. Contemporary costing data associated with invasive meningococcal disease are required to inform cost-effectiveness analyses.