PALESTRANTES INTERNACIONAIS CONFIRMADOS
PALESTRANTES INTERNACIONAIS CONFIRMADOS
ARI ZIMRAN
PROFESSOR ARI ZIMRAN, MD, IS AN INTERNATIONALLY RECOGNIZED PHYSICIAN–SCIENTIST SPECIALIZING IN LYSOSOMAL STORAGE DISORDERS, PARTICULARLY GAUCHER DISEASE (GD). HE FOUNDED AND DIRECTED THE GAUCHER UNIT AT SHAARE ZEDEK MEDICAL CENTER IN JERUSALEM FROM 1990 TO 2018, ESTABLISHING ONE OF THE WORLD’S LARGEST REFERRAL CENTERS FOR THE DISEASE. THE CLINIC HAS FOLLOWED NEARLY 1,000 PATIENTS AND TREATS APPROXIMATELY 500 INDIVIDUALS WITH ENZYME REPLACEMENT OR SUBSTRATE REDUCTION THERAPIES. HE IS ALSO AFFILIATED WITH THE HEBREW UNIVERSITY OF JERUSALEM FACULTY OF MEDICINE.
PROFESSOR ZIMRAN DEVELOPED HIS INTEREST IN GD DURING A FELLOWSHIP AT THE SCRIPPS RESEARCH INSTITUTE IN LA JOLLA, CALIFORNIA, UNDER THE MENTORSHIP OF ERNEST BEUTLER. OVER THE PAST THREE DECADES HE HAS PLAYED A CENTRAL ROLE IN ADVANCING CLINICAL RESEARCH AND THERAPEUTIC DEVELOPMENT IN GD, PARTICIPATING IN AND LEADING NUMEROUS INTERNATIONAL CLINICAL TRIALS.
HE HAS AUTHORED MORE THAN 360 PEER-REVIEWED PUBLICATIONS AND SEVERAL BOOKS ON LYSOSOMAL DISORDERS. HIS WORK CONTRIBUTED TO THE RECOGNITION OF THE ASSOCIATION BETWEEN GD AND PARKINSON DISEASE (PD) LINKED TO MUTATIONS IN THE GBA1 GENE.
MORE RECENTLY, PROFESSOR ZIMRAN FOUNDED AGYANY PHARMA, A BIOTECHNOLOGY COMPANY FOCUSED ON DEVELOPING THERAPIES AIMED AT MODIFYING THE COURSE OF GBA1-RELATED PD (SIDRANSKY SYNDROME) AND OTHER RELATED DISORDERS.
IGNÁCIO MANUEL ZARANTE MONTOYA
MEDICAL GENETICIST, MASTER’S DEGREE IN BIOLOGY AND PHD IN BIOLOGICAL SCIENCES FROM PONTIFICIA UNIVERSIDAD JAVERIANA. FULL PROFESSOR AND DIRECTOR OF THE INSTITUTE OF HUMAN GENETICS AT THE FACULTY OF MEDICINE, PONTIFICIA UNIVERSIDAD JAVERIANA. PRESIDENT OF THE COLOMBIAN ASSOCIATION OF MEDICAL GENETICISTS. HEAD OF THE GENETICS SERVICE AT HOSPITAL UNIVERSITARIO SAN IGNACIO. HIS AREAS OF EXPERTISE INCLUDE MEDICAL GENETICS, CONGENITAL DEFECTS, DEMOGRAPHY, FORENSIC GENETICS, AND THE DEVELOPMENT AND APPLICATION OF DIGITAL TOOLS WITH AI FOR TEACHING AND ASSESSMENT.
IVONA AKSENTIJEVICH
DR. IVONA AKSENTIJEVICH OBTAINED HER MEDICAL DEGREE FROM BELGRADE UNIVERSITY IN THE FORMER YUGOSLAVIA. IN 1990 SHE JOINED DR. DANIEL KASTNER IN THE INTRAMURAL RESEARCH PROGRAM OF THE NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES (NIAMS) TO WORK AS A POST-DOCTORAL FELLOW ON THE POSITIONAL CLONING OF THE GENE MUTATED IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER (FMF), AND LATER STAYED IN THE SAME GROUP AS A STAFF SCIENTIST. IN 2010, SHE MOVED WITH DR. KASTNER TO THE NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) AND CONTINUES TO STUDY THE GENETICS OF MONOGENIC AUTOINFLAMMATORY DISEASES. DR. AKSENTIJEVICH IS CERTIFIED IN CLINICAL MOLECULAR GENETICS BY THE AMERICAN BOARD OF MEDICAL GENETICS, AND SUPERVISES A CLIA-CERTIFIED LABORATORY FOR AUTOINFLAMMATORY DISEASE DIAGNOSTICS IN THE IDS. HER SCIENTIFIC ACCOMPLISHEMENTS ARE NUMEROUS, AND INCLUDE THE IDENTIFICATION OF SEVERAL GENES UNDERLYING KNOWN AUTOINFLAMMATORY DISEASES AS WELL AS THE DISCOVERY OF MULTIPLE PREVIOUSLY UNKNOWN CONDITIONS. SHE IS A PAST PRESIDENT OF THE INTERNATIONAL SOCIETY ON SYSTEMIC AUTOINFLAMMATORY DISEASES (ISSAID).
BEKIM SADIKOVIC
PROFESSOR AND PROGRAM HEAD, MOLECULAR DIAGNOSTICS PROGRAM,DEPARTMENT OF PATHOLOGY AND LABORATORY MEDICINE
CLINICAL ACTIVITIES: PROGRAM HEAD OF THE MOLECULAR DIAGNOSTICS PROGRAM, PATHOLOGY AND LABORATORY MEDICINE - A JOINT VENTURE BETWEEN LHSC AND ST. JOSEPH'S HEALTH CARE, LONDON, SERVICING A WIDE RANGE OF CONSTITUTIONAL AND ONCOLOGY MOLECULAR GENETIC DIAGNOSTICS INCLUDING CLINICAL MOLECULAR GENETICS, MOLECULAR PATHOLOGY, CLINICAL CYTOGENETICS, AND BIOCHEMICAL GENETICS LABORATORIES.
RESEARCH ACTIVITIES: DR. SADIKOVIC’S RESEARCH INTERESTS INVOLVE APPLICATION OF GENOMICS TECHNOLOGIES TO CLINICAL DIAGNOSTICS WITH PARTICULAR FOCUS ON DEVELOPMENT OF GENOMIC AND EPIGENOMIC BIOMARKERS IN HEREDITARY AND ACQUIRED GENOMIC CONDITIONS. DR. SADIKOVIC SERVES AS THE CLINICAL AND SCIENTIFIC DIRECTOR OF THE VERSPEETEN CLINICAL GENOME CENTRE, AND TRANSLATIONAL GENOMICS FACILITY WHICH FOCUSES ON DEVELOPMENT AND CLINICAL IMPLEMENTATION OF GENOMIC TECHNOLOGIES AND BIOMARKERS IN CARE OF PATIENTS WITH GENOMIC DISORDERS INCLUDING HEREDITARY GENETIC CONDITIONS AND CANCER. THE CENTRE UTILIZES ADVANCED BIOINFORMATIC APPROACHES INCLUDING MACHINE LEARNING ON PATIENT’S CLINICAL AND GENOMICS DATA TO NOVEL DEVELOP DIAGNOSTIC TOOL AND TECHNOLOGIES. THIS INCLUDES MACHINE LEARNING-BASED ALGORITHMS FOR DIAGNOSIS OF HEREDITARY GENETIC DISORDERS BASED ON PATIENT’S EPIGENOMIC PROFILES CALLED EPISIGN.
GHEONA ALTARESCU
DR. GHEONA ALTARESCU OBTAINED HER MAGNA CUM LAUDE DIPLOMA IN MEDICINE AT THE JASSY UNIVERSITY OF MEDICINE AND PHARMACY, ROMANIA. SHE PERFORMED HER TRAINING IN MEDICAL GENETICS AT THE NATIONAL INSTITUTES OF HEALTH, BETHESDA, USA DURING THE YEARS 1997 TO 2000 UNDER THE SUPERVISION OF DR. ROSCOE BRADY. DURING THIS PERIOD OF TIME, SHE TREATED MORE THAN 100 PATIENTS WITH DIFFERENT LYSOSOMAL STORAGE DISEASES: GAUCHER DISEASE TYPE I, II, AND III, FABRY DISEASE, MUCOLIPIDOSIS TYPE IV, HUNTER, AND HURLER DISEASE, AND PERFORMED BASIC MOLECULAR RESEARCH IN THE FIELD OF LYSOSOMAL STORAGE DISORDERS.
SHE IS BOARD CERTIFIED IN CLINICAL AND MOLECULAR GENETICS. UPON RETURNING TO ISRAEL SHE ESTABLISHED THE PREIMPLANTATION GENETIC DIAGNOSIS CLINIC AND LYSOSOMAL DISEASES CLINIC AT THE SHAARE ZEDEK MEDICAL CENTER IN JERUSALEM. THE CLINIC IS THE LARGEST OF ITS KIND IN ISRAEL AND PERFORMED PREIMPLANTATION GENETIC DIAGNOSES FOR MORE THAN 1000 DIFFERENT GENETIC DISORDERS INCLUDING LYSOSOMAL STORAGE DISEASES (GAUCHER, FABRY, AND HUNTER SYNDROME) RESULTING IN THE BIRTH OF 1300 HEALTHY CHILDREN SINCE THE YEAR 2005. SINCE THE DEVELOPMENTS IN THE FIELD OF NONINVASIVE PRENATAL TESTING, HER LAB IS DEVELOPING NEW TECHNIQUES FOR VERY EARLY NON-INVASIVE PRENATAL TESTING FOR MONOGENIC DISORDERS.
GHEONA ALTARESCU HAS PUBLISHED ALMOST 100 PEER-REVIEWED PAPERS IN THE FIELD OF LYSOSOMAL DISEASES AND PREIMPLANTATION GENETIC DIAGNOSIS AND IS CURRENTLY AN ASSOCIATE PROFESSOR OF GENETICS AT HEBREW UNIVERSITY HADASSAH MEDICAL SCHOOL, JERUSALEM, AND THE DIRECTOR OF THE PREIMPLANTATION GENETIC UNIT AND LYSOSOMAL DISEASES CLINIC AT SHAARE ZEDEK MEDICAL CENTER, JERUSALEM.
