Today’s show featured guests from the Murdoch Children’s Research Institute.
Guest 1: Elena Jane Tucker, PhD scholar at the MCRI.
Research topic: Mitochondria
Every cell of our bodies contains mitochondria which can be considered the “powerhouse” of cells, responsible for converting food into energy. Sometimes mitochondria don’t function properly and this causes disease. Mitochondrial disease can manifest in a wide variety of symptoms such as muscle weakness, strokes, seizures, heart defects, brain abnormalities and frequently death. The genetic cause for disease in a large proportion of patients is unknown. This suggests that there are genes involved that we have not yet discovered. My PhD is a “Next-Generation Sequencing” project which involves sequencing 100 putative disease-causing genes in 100 patients. This project is aimed to provide genetic diagnoses to the patients and families involved and also to discover new genes with a role in the function of mitochondria.
Guest 2: Amy Herlihy, PhD scholar at MCRI.
Research topic: Klinefelter syndrome (KS)
“Klinefelter syndrome (KS) is a common genetic condition (47XXY) affecting males, caused by an additional X chromosome. The most common features of KS are small testicles, infertility and low testosterone, but can also include breast development and social and learning problems. These features vary greatly between individuals. The prevalence of this condition is estimated at 1:650 males, which is very common for a genetic condition. In Australia, this means approximately 15,000 males have KS. Despite this, up to 70% of individuals are never actually diagnosed, which is the equivalent of more than 11,000 men in Australia.
Of those who are diagnosed, it often occurs in childhood because of learning problems, and also during adolescence because of breast development. However, the majority of those diagnosed don’t find out until later when they undergo infertility investigations with their partner. Even for these individuals, who might be considered at the “less severe” end of the spectrum, testosterone treatment and other interventions can have profound positive effects. The biggest unknowns for KS are how life is for this large undiagnosed proportion – current medical knowledge would suggest these men are unnecessarily experiencing symptoms which are readily treatable.
This project asks a number of questions – What is it like to be diagnosed with KS? What is the psychosocial impact of living with the condition? Would early diagnosis of individuals with KS allow for treatments to be implemented at the most appropriate times, resulting in better quality of life in both childhood and adulthood? If yes, should we consider population-based genetic screening for this condition, to ensure it is detected at an appropriate age? What would be the potential risks and benefits of such a program? Such screening programs raise many ethical and social issues that must be carefully considered. Advances in reproductive and medical technology continue to change these considerations.
This study uses questionnaires and interviews to better understand how KS impacts on people. At the moment, limited information is available to individuals with KS, their families and partners. We hope to use the results from this study to provide more resources about KS, including genetic counselling guidelines.”
Other stories were:
– the search for water on the moon,
– yet another reason to avoid obesity,
– a study which correlates physical strength or beauty with anger and even the use of force,
– Einstein A Go Go’s New York correspondent phones in amid Michael Jackson fever to discuss myths surrounding the King of Pop.
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Direct podcast download: Einstein-A-Go-Go-20090906.mp3
