Kenji Tanaka, full professor in Neurochemistry, is working at Institute for Advanced Medical Research, Keio University School of Medicine in Japan. He has been conducting glial cell research for more than 20 years and has been working on several leukodystrophy mouse models since 2003.
The laboratory of Dr. Cohen-Salmon is located in the Centre interdisciplinaire de Recherche en Biologie (CIRB) Collège de France in Paris. They are a fundamental neurobiology laboratory focusing on the role of specific cells of the brain: the astrocytes. These cells have the unique property to contact and regulate the vascular system in the brain and she studies these specific regulations.
The aim of the research group working at the Istituto Superiore di Sanità in Rome is to understand the dysfunctional molecular mechanisms causing MLC disease. MLC is mainly due to mutations in MLC1, a protein highly expressed in the brain by a population of cells called astrocytes.
Raúl Estévez, full professor in Physiology, is working at the Faculty of Medicine and Health Sciences in the University of Barcelona (UB)/Institute of Neuroscience and IDIBELL, belonging also to CIBERER, a network of Spanish groups working in rare diseases. He started to work in Megalencephalic Leukoencephalopathy with subcortical cysts (MLC) 20 years ago.
Assumpció Bosch, full professor in Biochemistry and Molecular Biology, is working at the Institute of Neurosciences at the Universitat Autònoma de Barcelona (UAB), in Spain. She has more than 25 years of experience in the characterization of murine models of disease and in preclinical gene therapy studies for rare disorders involving the nervous system.
Rogier is a cell biologist trained in electrophysiology and advanced live cell imaging. By combining studies on cell physiology with insights from the clinic, the ALC team aims to better understand disease mechanisms and identify therapeutic opportunities. Ultimately, the aim of these laboratory studies is to help develop the urgently needed MLC therapy and bring it to the clinic.
Studying MLC has been a focus of researchers at the Amsterdam Leukodystrophy Center (ALC) for the past 30 years. The ALC is headed by Prof. Marjo van der Knaap, child neurologist and world leading expert on leukodystrophies. She saw her first MLC patient in 1991 and has studied the disease since then.
Dr. Jigyasha Sinha is a Consultant Paediatric Neurologist at Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, India. She leads the department of Paediatric Neurology at the hospital’s Centre for Children. Prior to that she was the Head and Consultant in the Department of Paediatric Neurology at the Institute of Neurosciences, Kolkata. She was involved in a white matter disorder project in Amsterdam under the supervision of Prof. Van der Knaap and Prof. Nicole I Wolf. Her area of interest lies in leukodystrophies, particularly MLC, hypomyelination and movement disorders. The association of MLC with the Aggarwal community and its high case burden in India has kindled her deep interest with the passion to contribute to the world of this rare disease and support the affected families.
Mishka Michon has a long career history in development, marketing, partnership building, strategic planning and in her last role, the management of a national rare disease non-profit, the Coalition for Pulmonary Fibrosis. The Coalition developed a comprehensive set of resources for patients and families, raised national awareness of the disease, provided millions of dollars in funding to researchers and centers focused on Pulmonary Fibrosis, and partnered with pharmaceuticals, volunteers, public relations firms and others to develop a profile that would encourage attention to and an understanding of the fatal disease. The staff also developed an ongoing relationship with the NIH as well as creating a strong presence in Washington D.C. to raise congressional action around the disease.
Raúl Estevez is Full Professor at the University of Barcelona, member of the board of directors of the Institute of Neurosciences, member of IDIBELL, and unit leader at the CIBERER (Spanish center for rare diseases). Raúl worked as a postdoc at the Zentrum Molekulare Neurobiologie Hamburg (ZMNH, Hamburg, Germany) funded by an EMBO and Marie Skłodowska-Curie fellowships, and continued as a Ramón y Cajal researcher and Associate Professor. He studied the molecular basis of rare brain diseases and channelopathies, with a focus on regulatory aspects of chloride channels. From 2003, Raúl has been studying the molecular basis of the rare disease Megalencephalic leukoencephalopathy with subcortical cysts.
