Prof. Dr. Ines Noher

Professor Consultation

Consulting professor at the National University of Córdoba-Argentina. Founder of the translational research group on Neuronal Ceroid Lipofuscinosis at the Hospital de Niños de la Provincia de Córdoba in 2003. I am currently a scientific adviser to the Metabolic Diseases Section of the Hospital, member of the research group of project PID C 0023 of the Ministry of Science and Technology of the Nation whose principal investigator is Prof. Dra. Inés Adriana Cismondi. I am a scientific consultant to professionals, researchers and the industry in the field of Hereditary Metabolic Diseases, with special reference to Neuronal Ceroid Lipofuscinosis, reviewer of my colleagues' scientific publications, participant in international consensus on NCL on repeated occasions, member of the organizing committee of national and international congresses, director of the thesis of pediatrician Guillermo Guelbert, on the follow-up of children affected by CLN2 (the most frequent type of NCL in Latin America), under intrathecal enzyme replacement treatment at the Hospital de Niños de la Provincia From Cordoba.

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Prof. Dr. Inés Adriana Cismondi

Assistant Professor of Cellular Biology-School of Dentistry-UNC; Principal Investigator of the MINCYT PID-C Project

I work as an Assistant Professor in the Department of Oral Biology of the Faculty of Dentistry of the National University of Córdoba. I completed Master's studies in Biotechnology at the National University of Córdoba, Spain. I completed my PhD in Health at the Faculty of Medical Sciences- National University of Córdoba developing my thesis on LCN types 3, 5, 6, 7 and 8. I published scientific articles on various topics such as predoctoral and postdoctoral education; dental manifestations of rare diseases and oral impact of neurodegenerative diseases. I am a member of the permanent committee of the Research Office of the Faculty of Dentistry of the National University of Córdoba. My research interests are especially rare diseases and oral health; oral manifestations in neurodegeneration and oral manifestations in dental education. I am the principal investigator of the project on LCN (PIDC 0023-2016) of the Ministry of Science and Technology of the Nation (MINCYT) to date.

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Dr. Favio Pesaola

Postdoctoral Research Assistant at the Washington University in Saint Louis School of Medicine (MO, United States).

Favio Pesaola Biologist and PhD in Biological Sciences from the National University of Córdoba-Argentina. Former Doctoral and Postdoctoral Fellow of the National Council for Scientific Research of the Argentine Republic-CONICET. Postdoctoral Research Assistant at the Washington University in Saint Louis School of Medicine (MO, United States). My scientific career was focused on the genetic and cellular study of NCLs in general and variant 8 (CLN8) in particular, mainly on the regulation of the lysosomal system during the development of the disease. I am currently investigating the gene and biochemical regulation of the two major cellular degradation systems: lysosomal and proteasomal.

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Prof. Dr. Ana Lucía De Paul

Institute for Research in Health Sciences- INICSA-CONICET of the Faculty of Medical Sciences, UNC

Director of the Institute for Research in Health Sciences, INICSA-CONICET, Executing Unit of the Faculty of Medical Sciences, UNC. I lead two research groups at the Electron Microscopy Center (CME) of the Faculty of Medical Sciences, National University of Córdoba- Argentina on the topics of NCL type 7 and pituitary cell senescence.

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Dr. Norberto Guelbert

Pediatrician, Head of Hereditary Metabolic Diseases at the Reina Faviola Clinic of the Catholic University of Córdoba

I worked as a Pediatrician, Specialist in Medical Genetics and Hereditary Metabolic Diseases at CEMECO, Children's Hospital of the Province of Córdoba from its creation until 2018. I did my doctoral thesis on Lysosomal Diseases at said Center, under the direction of Professor Doctor Raquel Dodelson de Kremer. I have cared for children with various Inherited Metabolic Diseases for over 20 years. We developed enzyme replacement therapy in Type 2 Neuronal Ceroid Lipofuscinosis (ERT) and applied it for the first time in South America as a treatment for a group of affected Argentine children with the team of surgeons from the Children's Hospital. .

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Prof. Dr. Romina Kohan

Research Professor at the Faculty of Dentistry and the Faculty of Medical Sciences of the National University of Córdoba- Argentina

Prof. Dra. Romina Kohan I am a Research Professor at the Faculty of Dentistry and the Faculty of Medical Sciences (FCM) of the National University of Córdoba (UNC)- Argentina; Professor at the Faculty of Chemical Sciences of the Catholic University of Córdoba-Argentina (UCC). I studied Genetics at the Faculty of Exact, Chemical and Natural Sciences- National University of Misiones (1990 – 1997). I did my thesis under the supervision of Prof. Dr. Raquel Dodelson de Kremer and the Co-Direction of Prof. Dr. Inés Noher de Halac at the Center for the Study of Congenital Metabolopathies (CEMECO), Chair of Pediatric Clinic , FCM of the UNC and Hospital de Niños de Córdoba. I am a PhD in Health Sciences in the Biomedicine area from FCM of the UNC. My doctoral thesis on NCL type 1 and 2 in Argentina was directed by Prof. Dr. Inés Noher at CEMECO, and defended on March 23, 2011.

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Dr. Eng. Elmer Fernandez

Independent Scientific Researcher of the National Council for Scientific and Technical Research of the Argentine Republic-CONICET

PhD from the University of Santiago de Compostela Bioengineer INDEPENDENT INV Category Scientific discipline Technological and social development complex projects Informatics and Communications Disaggregated discipline BIOLOGY-BIOENGINEERING, BIOTECHNOLOGY Field of application Various fields Specialty Data Analysis and digital signal processing Topic DATA SCIENCE AND DEVELOPMENT OF STATISTICAL-COMPUTACIONAL METHODS FOR BIG DATA IN BIOMEDICAL SCIENCES / BIOTECHNOLOGICAL SCIENCES Subject in English DATA SCIENCE AND STATISTICAL-COMPUTATIONAL METHODS DEVELOPMENT FOR BIG DATA IN BIOMEDICAL / BIOTECHNOLOGICAL SCIENCES Keywords PRECISION MEDICINE // ARTIFICIAL INTELLIGENCE // ADVANCED COMPUTATION Keywords in English MEDICINE // ARTIFICIAL INTELLIGENCE // ADVANCED COMPUTING Place of work [CIDIE] CENTER FOR RESEARCH AND DEVELOPMENT IN IMMUNOLOGY AND INFECTIOUS DISEASES - [CCT CORDOBA] CONICET SCIENTIFIC TECHNOLOGICAL CENTER - CORDOBA - [CONICET] NATIONAL INVEST COUNCIL SCIENTIFIC AND TECHNICAL IGATIONS -

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Pediatrician Adriana Becerra

Head of the Metabolic Diseases Section, Children's Hospital of Córdoba, Argentina

I am a Pediatrician, specialist in Clinical Medical Genetics. I graduated as a Surgeon at the National University of Córdoba- Argentina in 1994. MP 24121/6. I completed my residency at the Pediatric Clinic at the Children's Hospital of Córdoba, Department of Teaching and Research, Ministry of Public Health of the Province of Córdoba in the period 1996-2000, obtaining the certification on May 31, 2000. I obtained the Full Certificate of Residency in Pediatrics at the Children's Hospital by the Health Residency Council. Ministry of Health of the Government of the Province of Córdoba, period 1996-2000 issued on June 2, 2000. I obtained the Pediatric Specialist Certificate issued by the Medical Council of the Province of Córdoba under No. 11438 on October 25, 2005.

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Pediatrician Guillermo Guelbert

Pediatric specialist in the Metabolic Diseases Section of the Children's Hospital of Córdoba, Argentina

Pediatric specialist doctor. Diploma in Inborn Errors of Metabolism. Working in the Metabolic Diseases Section of the Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina. Thesis student of the Doctorate in Medicine of the Faculty of Medical Sciences of the National University of Córdoba, under the direction of Prof. I. Noher. Doctoral thesis on the evaluation of children affected by LCN2 under intrathecal treatment with Cerliponase alfa at the Hospital de Niños de Córdoba.

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Biol. Ana Clara Venier

Research Project Grantee

Thesis student of the Doctorate in Health Sciences of the Faculty of Medical Sciences, National University of Córdoba. I am doing my doctorate through a FONCyT Initial Scholarship. My thesis director is Prof. Dra. Ana De Paul, and the place of work is the Electron Microscopy Center of the Faculty of Medical Sciences - INICSA CONICET. My thesis topic seeks to analyze the relationship between lysosomal dysfunction and the endo-lysosomal system in the pathophysiology of CLN7 disease, as well as to study CLN7 cases that are part of the "Córdoba Cohort".

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Prof. Dr. Ines Noher

Professor Consultation

National University of Córdoba-Argentina and Section of Metabolic Diseases of the Children's Hospital of the Province of Córdoba. Scientific Researcher (retired) of the National Council of Scientific and Technical Research of the Argentine Republic- CONICET

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Dr. Favio Pesaola

Postdoctoral Research Assistant at the Washington University in Saint Louis School of Medicine (MO, United States).

Favio Pesaola Biologist and PhD in Biological Sciences from the National University of Córdoba-Argentina. Former Doctoral and Postdoctoral Fellow of the National Council for Scientific Research of the Argentine Republic-CONICET. Postdoctoral Research Assistant at the Washington University in Saint Louis School of Medicine (MO, United States). My scientific career was focused on the genetic and cellular study of NCLs in general and variant 8 (CLN8) in particular, mainly on the regulation of the lysosomal system during the development of the disease. I am currently investigating the gene and biochemical regulation of the two major cellular degradation systems: lysosomal and proteasomal.

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