B2B Infrastructures in the Process of Drug Discovery and Healthcare

In this paper we describe a demonstration of an innovative B2B infrastructure which can be used to support collaborations in the pharmaceutical industry to achieve the drug discovery goal. Based on experience gained in a wide range of collaborative projects in the areas of grid technology, semantics and data management we show future work and new topics in B2B infrastructures which arise when considering the use of patient records in the process of drug discovery and in healthcare applications

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in MYRF, TMEM98, MFRP, and PRSS56. Two of four PRSS56 families harboured the previously described c.1066dupC variant implicated in over half of all reported PRSS56 kindreds, with different surrounding haplotypes in each family suggesting a mutational hotspot. Individuals with a genetic diagnosis had shorter mean axial lengths and higher hyperopia than those without, with recessive forms associated with the most extreme phenotypes. These findings detail the genetic architecture of nanophthalmos and posterior microphthalmos in a cohort of predominantly European ancestry, their relative clinical phenotypes, and highlight the shared genetic architecture of rare and common disorders of refractive error.Owen M. Siggs, Mona S. Awadalla, Emmanuelle Souzeau, Sandra E. Staffieri, Lisa S. Kearns, Kate Laurie, Abraham Kuot, Ayub Qassim, Thomas L. Edwards, Michael A. Coote, Erica Mancel, Mark J. Walland, Joanne Dondey, Anna Galanopoulous, Robert J. Casson, Richard A. Mills, Daniel G. MacArthur, Jonathan B. Ruddle, Kathryn P. Burdon, Jamie E. Crai

Selective laser trabeculoplasty versus topical medication as initial glaucoma treatment: the glaucoma initial treatment study randomised clinical trial

Published Online First 5 September 2019BACKGROUND/AIMS:To determine if selective laser trabeculoplasty (SLT) is superior to topical medication as a first-line treatment for glaucoma on quality of life (QoL) and clinical outcomes. METHODS:In this international, longitudinal, multisite randomised controlled trial, treatment naïve mild-to-moderate primary open angle or exfoliation glaucoma patients were randomised 1:1 to SLT or topical medication. Glaucoma-specific QoL (primary outcome) was measured using the Glaucoma Outcomes Assessment Tool (GOAT; 342 items, 12 domains). Secondary outcomes included rate of successful intraocular pressure (IOP) reduction (>25% reduction from baseline) and presence of ocular surface disease including conjunctival hyperaemia and eyelid erythema. Our intention-to-treat analysis was performed at months 12 and 24. RESULTS:Of 167 enrolled patients, 83 and 84 were randomised to SLT and topical medication, respectively; and 145 (n=75 SLT, n=70 medication) completed 24-month follow-up. While both treatment arms achieved significant within-group gains in GOAT outcomes at both endpoints, SLT patients reported a greater between-group improvement in 'social well-being' compared with medication patients (mean±SE=0.28±0.13; p=0.034) at 24 months. At month 24, the rate of successful IOP reduction was 18.6% (95% CI 3.0% to 34.3%, p=0.022) higher (absolute difference) in the medication compared with SLT group. More individuals in the medication group had conjunctival hyperaemia and eyelid erythema compared with SLT at 24 months. CONCLUSION:Overall, we did not find evidence that SLT was superior to medication in improving glaucoma-specific QoL. While we found superior IOP reduction in the medication arm, eyelid erythema and conjunctival hyperaemia were more prevalent in these patients compared with the SLT group. TRIAL REGISTRATION:ACTRN12611000720910.Ghee Soon Ang, Eva K Fenwick , Marios Constantinou, Alfred Tau Liang Gan, Ryan Eyn Kidd Man, Robert J Casson ... et al