Advancing genetic disease research
Associate Professor Mimi Berman is head of Royal North Shore Hospital’s busy Clinical Genetics Department, where a dedicated team of genetic doctors, nurses and counsellors look after people diagnosed or suspected of having an inherited condition.
The department also specialises in treating neurofibromatosis, a complex and unpredictable disease that causes tumours to form on any nerve in the body. “It’s a very debilitating condition,” says Mimi, mentioning symptoms that range from pain and disfigurement caused by the thousands of tumours to learning and thinking difficulties. The tumours can also sometimes become cancerous. Mimi and her team are running several International clinical trials investigating the disease, which affects one in 3,000 people. One trial sees adult patients taking drugs known as MEK inhibitors to block tumour growth. “It is the current drug of hope,” she says. Another trial they are about to recruit for is the Strength Study, which investigates muscle weakness and fatigue in children aged 8-12 years with the disease. “It’s a big issue,” says Mimi. “It affects their ability to participate in sport and their ability to participate in educational activities as they become fatigued towards the tail end of the day.”
There are two major types of the disease: neurofibromatosis type 1 (NF1) and Schwannomatosis. NF1 is diagnosed at birth or during early childhood. Schwannomatosis is a related disorder and is more frequently diagnosed in adults aged 30 or older.
Associate Professor Mimi Berman (centre in blue) and some of the clinical genetics department team.
16 Tomorrow’s medicine today
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