UCD PhD Student Karen Coss Wins Neil Buist Award
Her research is focused on examining the biological origins of the poorly understood long-term complications associated with Classical Galactosaemia, a rare metabolic disorder of carbohydrate metabolism. This condition affects 1:16,476 births annually in Ireland (the highest incidence worldwide) and is screened for by the National Newborn Screening Programme (NNSP).
The only treatment is life-long dietary restriction of galactose. Despite early treatment the majority of affected patients go on to develop long-term complications such as intellectual impairment, neurological complications, speech difficulties and infertility in females.
In a presentation by Karen to the US Society for Inherited Metabolic Disorders, ‘Classical Galactosaemia- a modifiable Glycosylation disorder?’, (Coss KP, Doran PP, Byrne JC, Adamczyk B, Rudd PM and Treacy EP) Karen illustrated that Galactosaemia patients had abnormal sugar chain profiles and illustrated modification/improvements of these abnormalities with differing galactose (a type of sugar) increments (Coss et al, Molec. Genet. Metab.2012, 105 (2), 212-20). The group has also shown dysregulation ( impairment of a physiological regulatory mechanism) of numerous genes involved in sugar chain production in treated patients.
This novel, innovative research suggests that over-restriction of galactose - in parallel with ongoing gene dysregulation - has a significant role to play in long-term complications associated with Galactosaemia. This has provided new insights into the nature of Galactosaemia provides an opportunity to improve future treatment and patient outcomes.
Karen's research was conducted with Professor Eileen Tracey, Clinical Professor of Inborn Errors at Trinity College Dublin, Dr. Peter Doran, Scientific Director of the UCD Clinical Research Centre and Professor Pauline Rudd, Head of the Dublin-Oxford Glycobiology Laboratory, National Institute for Bioprocessing, Research and Training (NIBRT).