Scientific Advisory Board

Dr Mark Handley

Dr Mark Handley

Research Fellow (Functional Genomics) University of Leeds

Dr. Handley is a career development fellow in functional genomics, working in the Medical Genetics research group of Professor Eamonn Sheridan. He moved to Leeds in 2017 in order to continue his work on the molecular pathology of Warburg Micro syndrome.

He began this work at the MRC Human Genetics Unit (University of Edinburgh) where he was a postdoctoral researcher in the groups of Dr Irene Aligianis, Professor Ian Jackson and Professor David FitzPatrick. Prior to this, he completed a PhD supervised by Professor Bob Burgoyne at the University of Liverpool.

Dr. Niamh O'Sullivan

Dr. Niamh O'Sullivan

Head of Genetics, University College Dublin

Dr. O'Sullivan heads up a research lab investigating the internal organisation and function of motor neurons which is helping to shed light on how these unique cells are disrupted in motor neuron diseases. Her lab specialises in the generation of novel in vivo models of disease using the fruit fly, Drosophila melanogaster.

These models allow them to study the organisation, interaction and function of organelles within neurons, particularly the longest axons targeted in neurodegenerative diseases. This work is providing a better understanding of the pathogenic mechanisms which contribute to axon degeneration in patients with inherited neurodegenerative disease.

Dr. Darius Ebrahimi-Fakhari

Dr. Darius Ebrahimi-Fakhari

Director of the Movement Disorders Program, Boston Children's Hospital.

Dr. Ebrahimi-Fakhari is is a board-certified Child Neurologist with special expertise in neurogenetic diseases, neurodegenerative diseases and movement disorders. As a physician-scientist dedicated to patient-centered translational research, his goal is to facilitate clinical trial readiness and to develop molecular therapies. His clinical research covers gene discovery and natural history studies. In the lab, his team is developing platforms for high-throughput small molecule and genetic screens in patient-derived neurons to identify therapeutic targets for neurological disorders in children. In his clinical practice, Dr. Ebrahimi-Fakhari cares for children with movement disorders and neurodegenerative disease. He is an advocate for families with rare diseases and serves this community clinically and scientifically.

Dr. Ellen Elias 

Dr. Ellen Elias 

Director, Specialty Care Clinic at Children's Hospital Colorado

Dr. Elias has been a pediatrician for over 40 years and has devoted her career to caring for children with developmental disabilities and medical complexity. She is proud to be the Medical Director of the Special Care Clinic at Children's Hospital Colorado, which provides a medical home to children with complex medical issues and support to their families in a number of ways. Her research involves clinical management of children with Smith-Lemli-Opitz Syndrome, an inherited condition in which the body's ability to make cholesterol is impaired.

She has developed a new center for caring for patients with Ehlers- Danlos Syndrome, and there will be research efforts associated with this work.