Smith-Magenis Syndrome (SMS): From Lab Research to Lives Changed seminar & panel discussion

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.

MEET THE SPEAKERS

KEYNOTE SPEAKER: Professor Ann C.M. Smith, MA, DSc (Hon), CGC

Professor Ann C.M. Smith is an internationally recognised genetic counsellor and a pioneering figure in the field of Smith-Magenis Syndrome. In 1986, she co-discovered SMS with geneticist Dr Ellen Magenis, following her earlier work identifying the distinctive clinical features of the syndrome. Ann went on to establish and lead multidisciplinary SMS research at the National Institutes of Health (NIH), including landmark studies into the natural history and sleep disturbances associated with SMS. A co-founder of PRISMS, she has dedicated more than four decades to advancing understanding of SMS, supporting research and improving care for individuals and families worldwide. A member of TEAM USA since launch of the Australian Breakaway SMS model in 2003, Ann continues to contribute her expertise to the SMS community as Chair Emeritus of the PRISMS Professional Advisory Board and, now retired from NIH, collaborative insight from her past clinical and research efforts at NIH.

Gail Kopp, BSN, RN

Gail Kopp is a registered nurse and long-standing member of the international Smith-Magenis Syndrome community. As the mother of a daughter with SMS, Gail brings both professional nursing expertise and lived experience to her work supporting individuals and families affected by the syndrome. She has worked closely with Professor Ann Smith and the SMS research community for many years, including assisting with SMS research clinics and family education initiatives. Gail was part of the original “Team USA” that travelled to Australia in 2008 to support the SMS Research Clinic at Camp Breakaway and has continued to play an important role in connecting families, sharing practical knowledge and supporting the SMS community internationally. Her combination of clinical experience, research-clinic involvement and personal understanding of life with SMS makes her a valued resource for families and professionals alike.

Gail Reiner DNP, FNP-C

Gail Reiner is a family nurse practitioner based in San Diego, California, with extensive experience in rare genetic and neurological disorders. She is Director of the Smith-Magenis Syndrome Clinic at Rady Children’s Hospital and has a particular interest in the complex medical, behavioural and developmental features of SMS. Gail is also involved in clinical and research work relating to mitochondrial disorders and neurometabolic conditions. As both a healthcare professional and a parent of a child with Smith-Magenis syndrome, she brings a unique combination of clinical expertise, research knowledge and lived experience to her work supporting individuals and families affected by SMS.

Distinguished Professor Chris Blanchard

Professor Chris Blanchard is Director of the La Trobe Institute for Sustainable Agriculture and Food (LISAF) and a Distinguished Professor at La Trobe University. His research spans agriculture, food science, nutrition, and human health, with a strong focus on translating scientific discoveries into practical outcomes for industry and the community.

In addition to his agricultural and food research portfolio, Professor Blanchard has contributed to research on Smith-Magenis Syndrome (SMS), investigating factors that influence health, behaviour, sleep, and quality of life for people living with this rare genetic condition. He is interested in improving understanding of the biological mechanisms underpinning SMS and supporting the development of evidence-based interventions that enhance wellbeing for affected individuals and their families.

Professor Blanchard brings both professional expertise and lived experience to this work. His daughter, Chloe, was diagnosed with Smith-Magenis Syndrome at 10 weeks of age, providing a personal perspective that has informed his long-standing commitment to improving outcomes for individuals living with SMS and their families.

HOST: Associate Professor Travis Johnson

Associate Professor Travis Johnson is a pre-clinical functional genomics researcher investigating the mechanisms underlying rare human diseases with the goal of developing new therapeutic approaches. He leads La Trobe University’s Cell Signalling and Rare Metabolic Disorder group, working with charities such as Archie's Embrace and the Childhood Dementia Initiative to advance rare disease research, advocacy and patient-focused treatment development, including novel therapeutic screening pipelines. His current work is funded by the NHMRC, ARC and several philanthropic organisations.