Smith-Magenis Syndrome (SMS): Lab Research to Lives Changed

Join us to learn, through Smith-Magenis Syndrome (SMS), how holistic research linking labs, the clinic, and the community, can make meaningful impact for those living with rare disease.

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Smith-Magenis Syndrome (SMS) is a rare neurobehavioural disorder which affects between 1 in 15,000 and 25,000 people worldwide.

Caused by genetic changes in the chromosomal region 17p11.2 and the gene RAI1, those living with SMS are affected by the wide-ranging physical, psychological and behavioural features of the condition, many of which can affect quality of life.

Quality of life can be improved with early intervention, but the lack of clinical awareness and SMS’s similarity with other neurological conditions can mean that diagnosis is missed or delayed, even though it can be done through a simple chromosome analysis blood test.

SMS is just one of more than 7000 known rare diseases, and although each individual disease affects less than 5 in 10,000 people, collectively their impact is widespread; in Australia alone, more than 2 million people in Australia live with a rare disease.

Because so few people are affected by each individual condition, conducting research to develop better diagnostics, treatments and to improve quality of life is more challenging – but that’s something we hope to change.

Join us for “Smith-Magenis Syndrome (SMS): From Lab Research to Lives Changed”. Through SMS, the discussion will explore the rare disease research journey, and demonstrate how to translate first discoveries to meaningful, positive impact for lived experience communities.

You will hear from experts at all stages of SMS’s research-to-impact journey:

• Professor Ann C. Smith (Keynote speaker)
  Co-discoverer of Smith-Magenis Syndrome

• Gail Kopp
  Registered nurse, long-standing member of the international Smith-Magenis Syndrome Community, and parent of a daughter with SMS

• Gail Reiner
  Family Nurse Practitioner and Director of Smith-Magenis Syndrome Clinic at Rady Children’s Hospital, San Diego

• Distinguished Professor Chris Blanchard
  Director of the La Trobe Institute for Sustainability and Food (LISAF), and parent of a daughter with SMS.
• Associate Professor Travis Johnson (Host)
  Leader of the Cell Signalling and Rare Metabolic Disease group at LIMS and La Trobe's School of Agriculture, Biomedicine and Environment (SABE).

You will also have the opportunity to connect with researchers, people with lived or carer experience, and clinicians

We hope you can join us for “Smith-Magenis Syndrome (SMS): From Lab Research to Lives Changed”, and learn how holistic research linking labs, the clinic, and the community, can make positive, meaningful impact for those living with a rare disease.

Smith-Magenis Syndrome Australia is the national support organisation for SMS, founded with a common desire to support children diagnoses with SMS and their families, drive a strong community connection and promote broader awareness of SMS. 

Find out more.