In 2016, he published “Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy” It was the culmination of many years of work utilizing surgical tissue, highlighting the importance of the sonic hedgehog pathway in HH.
In 2022, he also published two incredibly important papers. One highlighting that recessive inheritance of HH does occur in Pallister-Hall and a major paper re-conceptualizing the genetic models for etiology of HH and showing that HH can be considered a disorder of cilia dysfunction.
In true pioneering spirit, Michael is also working on techniques to extract DNA from LITT probes and stereo electrodes to detect mutations in the brain in the absence of resected HH tissue.
Over the years, Hope for HH has relied heavily on Michael to help educate other medical professionals and our patient and family community about the genetics of HH. He has provided numerous articles, presentations, and Q and A sessions to help unravel the complexities of HH with and without Pallister-Hall. He was instrumental in the recent preparation of Professional and Patient Educational Resources – a project that was done in collaboration with EpiCARE.
Michael always goes above and beyond – his passion for advancing the science and improving the lives of individuals with HH is unmatched. We as a community are grateful for all Michael and his team in Melbourne continues to do!
Learn more about Dr Hildebrand's HH research here.
