Sea star wasting disease (SSWD) describes a suite of abnormal signs in affected Asteroidea (Echinodermata). The gained prominence 2013-2014 after it was linked to mass mortality the northeast Pacific Ocean. Recent work highlighted key role heterotrophic microorganisms inhabiting diffusive boundary layer around sea stars generating via oxygen depletion. However, is unclear whether this phenomeno...

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by a loss of voluntary movement over time, leading to paralysis and death. While 10% of ALS cases are inherited or familial (FALS), the majority of cases (90%) are sporadic (SALS) with unknown etiology. Approximately 20% of FALS cases are genetically linked to a mutation in the anti-oxidizing enzyme, superoxide dis...

Sir, Periodontitis is a destructive inflammatory disease of the supporting tissues of the teeth and is caused either by specifi c microorganisms or by a group of specific microorganisms , resulting in progressive destruction of periodontal ligament and alveolar bone with periodontal pocket formation, gingival recession, or both.[1] Periodontitis has been proposed as having an etiological or mod...

The present report describes a Brazilian Negro sibship with six males affected by a presumptive new variant of Norrie's disease, an X-linked congenital oculo-acoustical-cerebral degeneration. In addition to the typical stigmata of the disease, all the patients were microcephalic and two of them had cryptorchidism. Possible non-genetic aetiology was investigated with negative results. Xg blood g...

My interest in inherited eye disease was initiated at the genetic outreach clinics conducted by the University of Cape Town (UCT) Department of Human Genetics at schools for visually and hearing-impaired children in the Western Cape. As a clinical registrar from 1992 to 1998, I accom panied Prof. Peter Beighton on numerous clinics, where I developed a fascination for understanding the genetic m...