Profile Category: Researchers

Hyun-Ho Lim, Ph.D. is a Principal Investigator of the Korea Brain Research Institute (KBRI). Dr. Lim received his Ph.D. in Molecular Neurobiology in 2005 from Gwangju Institute of Science and Technology. 

Binbin Cao is a pediatric neurologist at Xi’an Jiaotong University. In 2005, her team was the first to begin studying Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) in China.  Their focus included researching clinical and genetic features and the pathogenic mechanism of the disease.

Dr. Wang is a Professor of Pediatrics at Peking University First Hospital. In 2005, Dr. Dr. Wang along with Dr. Binbin Cao and her team were the first to begin studying Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) in China.  Their focus included researching clinical and genetic features and the pathogenic mechanism of the disease.

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.