The Genetic Support Network Victoria in collaboration with Murdoch Children’s Research Institute celebrated Rare Disease Day by holding a seminar where the latest Researchers presented and outlined the importance of all countries and researches share the collaboration of data, in helping identify rare diseases. Dr Kym Boycott a leading investigator of Rare Disease Genes in
Wellbeing in Chronic Conditions Study The Telethon Kids Institute are collaborating with the Genetic Services of WA and Princess Margaret Hospital on research into the mental health, wellbeing and school experiences of young people diagnosed with a rare disease. If you would like to read more or participate in the online survey click here.
Below are links relevant to the process of Kuvan being available on PBS and future research directions for PKU. The MDDA aim to provide factual evidence and information about some of the challenges regarding making Kuvan available on the PBS. This 2014 paper from NPKUA summarises some of the key research directions in finding a
“Recent advances reveal a strong need for new therapies to combat cognitive dysfunction and psychiatric disorders that arise due to dietary lapses throughout life. In a study published Feb. 15, 2016 in Proceedings of the National Academy of Sciences, Fox Chase Cancer Center — Temple Health researchers made tremendous strides toward that goal by shedding
Kuvan is listed on the PBS for people with BH4 deficiency. This is a different disorder to PKU, which is caused by Phenyl hydroxylase (PAH) defects. BH4 deficiencies are unable to be managed with the diet alone and this extremely rare disorder occurs in only 1 -2 people per million. In 2011 the PBAC rejected an
If you would like to see presentations from the MCRI symposium and download a copy of the Newborn Screening Celebrating 50 years in Victoria book please click here Click here to see Channel 7 coverage taken on the day featuring the Coopers and the Hellings. MEDIA RELEASE Wednesday 10th February 2016 State celebrates 50 years of newborn screening