Elleder Milan

Prof., MUDr., DrSc.
Born December 4, 1938

• Medicine
• Member of Learned Society since 2002

Educational and professional preparation:

• 1945-1957 elementary and secondary schools, Prague;
• university study: Faculty of General Medicine, Charles University, Prague;
• 1964 First Faculty of Medicine, CU (graduation);
• 1989 Associate Professor, FGM, First Faculty of Medicine, CU, specializing in pathological anatomy;
• 1973 First Certificate; 1978 Second Certificate;
• 1981, PhD; 1988; DSc.

Employment and academic positions:

• 1964-1967, secondary physician, First Institute of Pathological Anatomy (Faculty Hospital I);
• 1967, assistant, FGM First Faculty of Medicine CU;
• 1986,-1994 Head, Reference Group for Diagnosis of Lysosomal Diseases, (Hlava First Institute of Pathological Anatomy, First Faculty of Medicine, CU);
• 1994-present, Head, Institute (formerly Centre) for Inborn Metabolic Disorders, First Faculty of Medicine and FGM, Prague.

Membership in selected domestic scientific bodies:

• 1990-1996, Vice Dean for science and scientific work;
• 1997-present, member, Coordination Board for Biomedicine, Association of Biomedicine-Oriented Institutes of CU and AS CR

Membership and positions in international organizations and societies:

• Member, European Society of Pathology
• Member, European Society of Neuropathology
• Member, Committee of the European Study Group on Lysosomal Diseases
• Member, Czech Medical Academy

Notable awards:

• 1974, 1982, 1990, Award of the Society of CS (Collagenous Spherulosis) Pathologists
• 1986, Prize of the Czech Ministry of Health
• 1995, Prize of the CS Neurological Society for the best neurological publication
• 2001, Prize of the Learned Society of the Czech Republic

Selected publications:

• Elleder M., Drahota Z., Lisá V., Mareš V., Mandys V., Muller J., Palmer D. N.: Tissue culture loading test with storage granules from animal models of neuronal ceroid lipofuscinosis (Batten disease): testing their lysosomal degradability by normal and Batten cells. Amer. J. Med. Genet. 57, 213-221,1995
• Elleder M., Sokolová J., Hřebíček M.: Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol. 93, 379-390, 1997
• Ledvinová J., Poupětová H., Hanáčková A., Písačka M., Elleder M.: Blood group B glycosphingolipids in a-galactosidase deficiency (Fabry disease): influence of secretor status. BBA 1345: 180-187, 1997
• Carstea E.D., et al., Elleder M. et al. (40 authors): Niemann-Pick C1 Dis.Gene: Homology to mediators of cholesterol homeostasis. Science, 277, p. 228-31,1997
• Elleder M., Lake B. D., Goebel H. H., Rapola J., Haltia M., Carpenter S.: Definition of the ultrastructural patterns found in NCL. In: The neuronal ceroid lipofuscinoses (Batten disease). (H. H. Goebel, S. E. Mole, B. D. Lake, Edits.). IOS Press, Amsterdam 1999, pp. 5-15
• Kmoch, S., Brynda J., Asfaw B., Bezouška K., Novák P., Řezáčová P., Ondrová L., Filipec M., Sedláček J., Elleder M: Link between a novel human g-D-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum. Mol. Genet. 9, 1779-1786, 2000
• Hůlková H., Červenková M., et al., Elleder M. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin, and saposins, and is associated with a complex shingolipidosis dominated by lactosylceramide accumulation. Hum. Mol. Genet. 10(9), 927-940, 2001
• Kluenemann H.H., Elleder M., Kaminski W.E., Snow K., Peyser J.M., O´Brien J.F., Munoz D., Schmitz G., Ibach B., Pendlebury W.W.: Founder effect and frontal lobe atrophy due to novel mutation in the cholesterol binding protein HE1/NPC2. Ann. Neurol., 2002 (December)
• Nijssen P.C.G., Ceuterick C, van Diggelen O. P., Elleder M.,Martin J-J., Roos R. A. C., Teepen J. L. J. M, Tyynela J.: Autosomal dominant adult neuronal ceroid-lipofuscinosis: a novel form of NCL with granular osmiophilicn deposits without palmitoyl-protein thioesterase 1 deficiency. Brain Pathology, 2003.