The co-discoverer of a rare genetic disorder, Smith-Magenis Syndrome (SMS), will attend an international workshop on the disorder in Wagga Wagga on Tuesday 4 July. Dr Ann Smith, a genetic counsellor and head of the SMS Research Unit at the National Human Genome Research Institute in the US, will be a special guest at the workshop. Charles Sturt University (CSU) senior molecular biology lecturer and workshop organiser, Dr Chris Blanchard is the founder and mentor for the CSU Smith-Magenis Syndrome research group and is the father of a five year old daughter with SMS. The syndrome which is caused by a missing piece of genetic material from chromosome 17 (deletion 17p11.2), was first described by Dr Ann Smith and Dr Ellen Magenis in the early 1980s. Smith-Magenis Syndrome is a chromosomal disorder characterised by a recognisable pattern of physical, behavioural and developmental features including facial appearance; infant feeding problems; developmental delay; chronic ear infections; hearing impairment and speech delay. Although the condition is incurable and often underdiagnosed, it is estimated there are more than 1 000 people with SMS in Australia. “The workshop will provide local allied health professionals with an increased understanding of what is thought to be one of the most difficult genetic syndromes to treat and manage,” Dr Blanchard said. “The visit by three world-renowned US scientists highlights the increasing importance of research being undertaken at CSU.” Further information on SMS is available here.