Tackling Salla

Tackling a Rare Genetic Disease

Salla disease is a rare autosomal recessive genetic disease that displays symptoms from the very beginning of a child’s life.

The psychomotor symptoms worsen during childhood, leading to severe motor and cognitive deficits.

This results from a single mutation of the gene coding for the sialic acid transporter, which leads to trafficking defect of this protein.

Virtual Approaches

To better understand this incurable disease, a group of researchers including BIOVIA’s Ambassador Francine Acher and BIOVIA’s Dr Hugues-Olivier Bertrand, Dr Anne Goupil-Lamy and Alexandre Cabayé have published their findings in a paper entitled “Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin,” which appears in the Journal of Medicinal Chemistry.

Using BIOVIA Discovery Studio, they studied the interactions of new inhibitors using docking and molecular dynamics simulations in an explicit environment.

These new compounds may help scientists to understand the physiological role of sialin, while also developing chaperones, types of molecules that could fix sialin’s trafficking defect.


Victor Milman

BIOVIA, Dassault Systèmes
Senior Director of the Quantum Mechanics and Nanotechnology R&D Team, Victor Milman, Ph.D., joined BIOVIA in 1994 and currently serves as a senior fellow and manager of quantum mechanics and nanotechnology research and development team. He graduated from Moscow Institute of Physics and Technology and received his doctorate in solid state physics from The Ukrainian Academy of Sciences. His subsequent research at the Institute of Metal Physics in Kiev focused on development of first principles techniques for study of lattice properties of inorganic crystals. This work continued at the Cavendish Laboratory, Cambridge, where he was employed as a Research Associate for the SERC Collaborative Computational Project in electronic structure of solids. This activity in the group of Professor Heine and Professor Payne culminated in the public release of CASTEP, a revolutionary code for quantum-mechanical modelling of solids and surfaces. Milman further worked for a year as a visiting research fellow at the DOE Oak Ridge National Laboratory, concentrating on applications of CASTEP to physics of semiconductors, from modelling growth processes to study of extended defects. Victor Milman has 150 peer-reviewed publications with the h-index of 29, which reflects both productivity and high scientific impact of his research. His contributions include numerous conference presentations, co-supervision of doctorate students with University of Cambridge and with University College London, organization of meetings and symposia, regular refereeing of papers for the major journals in physics and chemistry.

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