PALESTRANTES INTERNACIONAIS CONFIRMADOS

PALESTRANTES INTERNACIONAIS CONFIRMADOS

( Haverá tradução simultânea)


MEDICA ENDOCRINOLOGA PEDIATRA
DRA DE LA UNIVERSIDAD DE BUENOS AIRES. AREA PEDIATRIA
MEDICA DE PLANTA DEL HTAL DE NIÑOS R GUTIERREZ BUENOS AIRES
INVESTIGADORA EN SALUD DEL CONICET. UNIDAD EJECUTORA CENTRO DE INVESTIGACIONES ENDOCRINOLÓGICAS ¨DR CESAR BERGADA¨ CONICET-FEI_ HOSPITAL DE NIÑOS R GUTIERREZ. BUENOS AIRES. ARGENTINA
INVESTIGADORA INDEPENDIENTE DEL GOBIERNO DE LA CIUDAD DE BUENOS AIRES
DIRECTORA DEL PROGRAMA DE PESQUISA NEONATAL DE LA FUNDACION DE ENDOCRINOLOGIA INFANTIL
COORDINADORA MEDICA DEL PROGRAMA DE PESQUISA NEONATAL DE GOBIERNO DE LA CIUDAD DE BUENOS AIRES
PROFESORA TITULAR DE ENDOCRINOLOGIA. FACULTAD DE MEDICINA UNIVERSIDAD DE SALVADOR
AREAS DE INTERÉS _ SCREENING NEONATAL, PATOLOGÍA TIROIDEA DE L AINFANCIA Y ADOLESCENCIA. FENILCETONURIA

LICENCIADA EM BIOQUÍMICA PELA UNIVERSIDADE DO PORTO 1994), ESPECIALISTA EM GENÉTICA HUMANA 2003), DESEMPENHA FUNÇÕES NA UNIDADE DE RASTREIO NEONATAL, METABOLISMO E GENÉTICA INSA-PORTO, DEPARTAMENTO DE GENÉTICA HUMANA), DESDE 2004.
INICIOU A SUA ATIVIDADE PROFISSIONAL EM 1994, NA ÁREA DAS DOENÇAS LISOSSOMAIS DE SOBRECARGA, À QUAL SE DEDICOU DURANTE 10 ANOS UNIDADE DO LISOSSOMA E DO PEROXISSOMA DO INSTITUTO DE BIOLOGIA MOLECULAR E CELULAR DA UNIVERSIDADE DO PORTO), PARTICIPANDO EM VÁRIOS PROJETOS NESTA ÁREA E DAQUI RESULTANDO O TRABALHO QUE LHE PERMITIU OBTER O GRAU DE DOUTOR EM CIÊNCIAS BIOMÉDICAS ICBAS - UP), COM A DISSERTAÇÃO “ARYLSULFATASE A: GENETIC EPIDEMIOLOGY AND STRUCTURE/ FUNCTION STUDIES” 2004).
DESDE 2004 DESENVOLVE A SUA ATIVIDADE NA ÁREA DO RASTREIO NEONATAL; PARTICIPOU NO ESTUDO PILOTO E NA IMPLEMENTAÇÃO A NÍVEL NACIONAL DO RASTREIO NEONATAL DAS DOENÇAS HEREDITÁRIAS DO METABOLISMO POR ESPECTROMETRIA DE MASSA 2004-2006), FOI RESPONSÁVEL PELO ESTUDO PILOTO PARA O RASTREIO NEONATAL DA FIBROSE QUÍSTICA 2013-2016), QUE RESULTOU NA INTEGRAÇÃO DESTA PATOLOGIA NO PAINEL DE DOENÇAS DO PROGRAMA NACIONAL DE RASTREIO NEONATAL EM 2018, E ATUALMENTE PARTICIPA NA IMPLEMENTAÇÃO A NÍVEL NACIONAL DO RASTREIO DA DREPANOCITOSE 2021). AO LONGO DESTES ANOS TEM CONTRIBUÍDO ATIVAMENTE PARA A ATUALIZAÇÃO E DIVULGAÇÃO DOS RESULTADOS DO PROGRAMA NACIONAL DE RASTREIO NEONATAL, QUER PELAS VÁRIAS PUBLICAÇÕES EM REVISTAS CIENTÍFICAS ESPECIALIZADAS INTERNACIONAIS, QUER PELA PARTICIPAÇÃO E APRESENTAÇÃO DE COMUNICAÇÕES EM REUNIÕES CIENTÍFICAS NACIONAIS E INTERNACIONAIS.

DR. BARBARA K. BURTON IS A PROFESSOR OF PEDIATRICS AT THE NORTHWESTERN UNIVERSITY FEINBERG SCHOOL OF MEDICINE AND AN ATTENDING PHYSICIAN IN THE DIVISION OF GENETICS, BIRTH DEFECTS AND METABOLISM AT THE ANN & ROBERT H. LURIE CHILDREN’S HOSPITAL OF CHICAGO. SHE IS BOARD CERTIFIED IN PEDIATRICS, CLINICAL GENETICS AND CLINICAL BIOCHEMICAL GENETICS. HER CLINICAL AND RESEARCH INTERESTS ARE FOCUSED ON INBORN ERRORS OF METABOLISM AND NEWBORN SCREENING. DR. BURTON IS AN INVESTIGATOR IN NUMEROUS NATURAL HISTORY STUDIES AND CLINICAL TRIALS OF NEW THERAPIES FOR VARIOUS METABOLIC DISORDERS INCLUDING PKU, FATTY ACID OXIDATION DISORDERS AND LYSOSOMAL STORAGE DISORDERS. SHE HAS PUBLISHED OVER 200 PEER-REVIEWED ARTICLES, 50 CHAPTERS IN BOOKS AND IS AN EDITOR OF TWO TEXTBOOKS. DR. BURTON IS ACTIVE IN PROFESSIONAL ORGANIZATIONS AND IS A PAST-PRESIDENT OF THE SOCIETY FOR INHERITED METABOLIC DISORDERS AND THE CHICAGO PEDIATRIC SOCIETY. SHE SERVED FOR FOUR YEARS AS A MEMBER OF THE SECRETARY’S ADVISORY COMMITTEE ON HERITABLE DISORDERS IN INFANTS AND CHILDREN, THE FEDERAL ADVISORY COMMITTEE THAT MAKES RECOMMENDATIONS REGARDING NEWBORN SEEING IN THE US AND CURRENTLY SERVES AS CHAIRMAN OF THE NEWBORN SCREENING ADVISORY COMMITTEE OF THE ILLINOIS DEPARTMENT OF PUBLIC HEALTH.

DR. CLAUDIA SOLER-ALFONSO RECEIVED HER MEDICAL DEGREE FROM EL BOSQUE UNIVERSITY, COLOMBIAN SCHOOL OF MEDICINE, BOGOTA, COLOMBIA IN 2004. SHE ALSO COMPLETED DUAL RESIDENCY TRAINING IN PEDIATRICS AND MEDICAL GENETICS AT THE UNIVERSITY OF TEXAS MEDICAL SCHOOL IN HOUSTON. SHE SUBSEQUENTLY TRAINED IN BIOCHEMICAL GENETICS AND METABOLIC DISORDERS AT THE CHILDREN’S HOSPITAL OF PHILADELPHIA. DR. SOLER-ALFONSO HAS AUTHORED NUMEROUS RESEARCH ITEMS IN THE FIELD OF BIOCHEMICAL GENETICS, AND SHE HAS SERVED ON THE PROGRAM COMMITTEE AT THE AMERICAN COLLEGE OF MEDICAL GENETICS AND IS A FELLOW OF THE AMERICAN BOARD OF MEDICAL GENETICS. SHE IS CURRENTLY AN ASSISTANT PROFESSOR OF HUMAN GENETICS AT BAYLOR COLLEGE OF MEDICINE AND A METABOLIC GENETICIST AT TEXAS CHILDREN’S HOSPITAL IN HOUSTON, TX. HER RESEARCH INTERESTS INCLUDE ORGANIC ACIDEMIAS, GLYCOGEN STORAGE DISORDERS, NEWBORN SCREENING, AND OTHER INBORN ERRORS OF METABOLISM INVOLVING CELLULAR ENERGY GENERATION.

MÉDICO GENETICISTA COM MESTRADO EM CIÊNCIAS MÉDICAS:MEDICINA E DOUTORADO EM GENÉTICA E BIOLOGIA MOLECULAR PELA UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL E PÓS DOUTORADO EM MEDICINA INDIVIDUALIZADA PELA MAYO CLINIC. ATUALMENTE É DIRETOR MÉDICO DO PROGRAMA DE DOENÇAS RARAS E NÃO DIAGNOSTICADAS DO CENTER FOR INDIVIDUALIZED MEDICINE DA MAYO CLINIC E PROFESSOR ASSOCIADO DE GENÉTICA MÉDICA DA MAYO CLINIC COLLEGE OF MEDICINE AND SCIENCE.

POSSUI GRADUAÇÃO EM BIOMEDICINA PELO INSTITUTO CENECISTA DE ENSINO SUPERIOR DE SANTO NGELO IESA). MESTRE EM CIÊNCIAS MÉDICAS PELA UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL UFRGS). DOUTORA EM GENÉTICA E BIOLOGIA MOLECULAR PELA UNIVERSITY OF DELAWARE UDEL, EUA). PÓS-DOUTORA PELO PPGBM-UFRGS. STAFF SCIENTIST NO GREENWOOD GENETIC CENTER, EUA. ATUALMENTE FAZ PARTE DO GRUPO DE PESQUISA EM DISPLASIA ESQUELÉTICA DO HOSPITAL ALFRED I. DUPONT, NEMOURS-EUA; COLABORADORA DO GRUPO EM MEDICINA TRANSFUSIONAL DO HCPA, E DO LABORATÓRIO DE GENÉTICA MOLECULAR-SGM/HCPA SERVIÇO COLABORADOR DA ORGANIZAÇÃO MUNDIAL DE SAÚDE-OMS). EDITORA TÉCNICA ASSISTENTE DO JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING. PRÊMIOS: 2017 YOUNG INVESTIGATOR AWARD-13TH ANNUAL WORLDSYMPOSIUM; 2017 THEODORE WOLF PRIZE- OUTSTANDING DISSERTATION IN THE PHYSICAL AND LIFE SCIENCES-DISSERTATION TITLE: DIAGNOSIS AND THERAPIES FOR MUCOPOLYSACCHARIDOSES; 2019 YOUNG INVESTIGATOR AWARD- 15TH ANNUAL WORLDSYMPOSIUM; 2020 GSEM YOUNG INVESTIGATOR AWARD- GSEM; 2020 DUSSAULT MEDAL- ISNS.

FRANÇOIS MAILLOT IS A PROFESSOR OF INTERNAL MEDICINE AT THE UNIVERSITY OF TOURS, FRANCE. HE IS THE HEAD OF THE DEPARTMENT OF INTERNAL MEDICINE WHICH IS PART OF A REFERENCE CENTER FOR INBORN ERRORS OF METABOLISM (IEM) AT THE UNIVERSITY HOSPITAL IN TOURS. PROFESSOR MAILLOT IS INVOLVED IN THE CARE AND TREATMENT OF ADULT PATIENTS WITH IEM. HE HAS A SIGNIFICATIVE PUBLICATIONS RECORD FOR PRIMARY RESEARCH ACROSS A WIDE ARRAY OF IEM. AMONG HIS RESEARCH ACTIVITIES, HE HAS STUDIED AND PUBLISHED PAPERS ABOUT ADULT AND MATERNAL PHENYLKETONURIA (PKU). PROFESSOR MAILLOT IS A MEMBER OF THE FRENCH NATIONAL SOCIETY FOR THE STUDY OF IEM (SFEIM) AND THE INTERNATIONAL SOCIETY FOR THE STUDY OF IEM (SSIEM), AND HAS BEEN INVOLVED IN THE EUROPEAN PKU GUIDELINES WORKING GROUP SINCE 2012.

JIM BONHAM IS CURRENTLY THE NATIONAL LABORATORY LEAD FOR THE NEWBORN SCREENING BLOOD SPOT PROGRAMME IN THE UK. HE IS ALSO PRESIDENT OF THE INTERNATIONAL SOCIETY FOR NEONATAL SCREENING WITH MORE THAN 500 MEMBERS IN 80 COUNTRIES.
IN 2012 HE LED A STUDY TO INTRODUCE ADDITIONAL INHERITED METABOLIC DISORDERS INTO THE NATIONAL NEWBORN SCREENING PROGRAMME IN THE UK. FOUR OF THESE WERE INCORPORATED AS PART OF THE PROGRAMME IN ENGLAND AND WALES FROM 2015.
HE HAS INTERESTS IN THE ORGANISATION, QUALITY AND EFFECTIVENESS OF NEWBORN SCREENING AND HOW THIS MIGHT BE OPTIMISED AND EXTENDED TO BENEFIT PATIENTS AND FAMILIES IN THE UK AND EUROPE AND MORE RECENTLY AS PART OF THE GLOBAL TASKFORCE ON NEWBORN SCREENING, TO LOW AND MIDDLE INCOME COUNTRIES.
PROF BONHAM HAS PLAYED AN ACTIVE ROLE IN SEVERAL NATIONAL AND INTERNATIONAL PROFESSIONAL ORGANISATIONS INCLUDING THE SSIEM, ROYAL COLLEGE OF PATHOLOGISTS, UKNSLN, METBIONET, NEQAS AND UKAS. HE HELPED FOUND THE BRITISH INHERITED METABOLIC DISEASE GROUP AND THE INTERNATIONAL EQA PROVIDER FOR INHERITED METABOLIC DISORDERS – ERNDIM.
HIS EFFORTS IN THESE AREAS WERE GENEROUSLY RECOGNISED BY THE AWARD OF AN MBE IN 2020

ASSISTANT PROFESSOR, NOVA MEDICAL SCHOOL | FACULDADE DE CIÊNCIAS MÉDICAS, UNIVERSIDADE NOVA DE LISBOA, PT, NUTRITIONIST, PHD, REFERENCE CENTRE OF INHERITED METABOLIC DISEASES, CENTRO HOSPITALAR UNIVERSITÁRIO LISBOA CENTRAL, PT, RESEARCHER, CENTER FOR HEALTH TECHNOLOGY AND SERVICES RESEARCH, PT
JÚLIO CÉSAR ROCHA IS A NUTRITIONIST (0438N – SPECIALIST IN CLINICAL NUTRITION), WITH A POST GRADUATE QUALIFICATION IN CLINICAL NUTRITION FROM THE FACULTY OF NUTRITION AND FOOD SCIENCES – UNIVERSITY OF PORTO (UP) AND HE HAS ALSO A PHD IN METABOLISM, AT THE FACULTY OF MEDICINE, UP.
HE HAS BEEN WORKING IN THE FIELD OF INBORN METABOLIC DISEASES SINCE 2003. HE IS ASSISTANT PROFESSOR AT NOVA MEDICAL SCHOOL TEACHING IN THE FIELD OF NUTRITION AND METABOLISM. HE IS ALSO MEMBER OF THE MULTIDISCIPLINARY CLINICAL TEAM AT THE REFERENCE CENTRE OF INHERITED METABOLIC DISEASES AT CENTRO HOSPITALAR UNIVERSITÁRIO LISBOA CENTRAL AND HE IS A RESEARCHER AT CINTESIS (CENTER FOR HEALTH TECHNOLOGY AND SERVICES RESEARCH).
HE IS COUNCIL MEMBER OF THE SSIEM (SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM), CHAIR OF THE DIETICIANS GROUP OF THE SSIEM (SSIEM-DG), CHAIR OF THE NUTRITION GROUP OF THE PORTUGUESE SOCIETY OF METABOLIC DISORDERS (SPDM-GN) AND PRESIDENT OF THE PORTUGUESE SOCIETY OF CLINICAL NUTRITION AND METABOLISM (SPNCM).
HE IS ALSO MEMBER OF THE WORKING GROUP OF THE EUROPEAN PHENYLKETONURIA GUIDELINES (EPG 2.0) UNDER THE UMBRELLA OF THE ESPKU (EUROPEAN SOCIETY FOR PHENYLKETONURIA AND ALLIED DISORDERS TREATED AS PHENYLKETONURIA). HE HAS BEEN ALSO MEMBER OF THE PKU EUROPEAN PARLIAMENT CROSS PARTY ALLIANCE, A JOINED GROUP OF MEMBERS OF THE EUROPEAN PARLIAMENT (MEP), EXPERTS AND CIVIL SOCIETY.
HE IS AUTHOR OF MORE THAN 65 INTERNATIONAL, INDEXED, SCIENTIFIC PUBLICATIONS AND HE HAS DONE MORE THAN 100 ORAL PRESENTATIONS/LECTURES/CONFERENCES IN MORE THAN 12 DIFFERENT COUNTRIES.

NUTRICIONISTA
MAGISTER EN NUTRICIÓN Y ALIMENTOS DEL INSTITUTO DE NUTRICIÓN Y TECNOLOGÍA DE LOS ALIMENTOS (INTA) DE LA UNIVERSIDAD DE CHILE.
HACE 3 AÑOS TRABAJO EN EL LABORATORIO DE ERRORES INNATOS DEL METABOLISMO DEL INTA, EN EL MANEJO NUTRICIONAL DURANTE EL PERIODO AGUDO Y EL CRÓNICO DE PACIENTES CON EIM.
PARTICIPO EN DOCENCIA DE BECADOS DEL ÁREA DE PEDIATRÍA, NEONATOLOGÍA Y NEUROLOGÍA. REALIZAMOS CURSOS DE PERFECCIONAMIENTO Y DIPLOMADOS ONLINE DIRIGIDO A PROFESIONALES DE LA SALUD CON INTERÉS EN MANEJO Y SEGUIMIENTO DE EIM.
PARTICIPO EN INVESTIGACIONES DE NUESTRO EQUIPO DE TRABAJO.

PROFESSOR HOFMAN IS A PAEDIATRIC ENDOCRINOLOGIST AND RESEARCHER BASED AT THE LIGGINS INSTITUTE, UNIVERSITY OF AUCKLAND. HE HAS BEEN INVOLVED IN CLINICAL RESEARCH FOR OVER 30 YEARS AND PUBLISHED OVER 230 PAPERS. HE HAS VARIED RESEARCH INTERESTS INCLUDING DEVELOPMENTAL ORIGINS OF ADULT HEALTH AND DISEASE, PAEDIATRIC OUTCOMES FROM ASSISTED REPRODUCTIVE TECHNOLOGIES AND NEW BORN SCREENING OUTCOMES OF CONGENITAL ADRENAL HYPERPLASIA AND HYPOTHYROIDISM. HE HAS BEEN PRESIDENT OF BOTH THE AUSTRALASIAN PAEDIATRIC ENDOCRINE SOCIETY AND THE ASIA-PACIFIC PAEDIATRIC ENDOCRINE SOCIETY AND IS INVOLVED IN PROMOTING ENDOCRINE TRAINING IN THE ASIA PACIFIC REGION AS WELL AS IMPROVING PAEDIATRIC ENDOCRINE CARE IN RESOURCE CONSTRAINED COUNTRIES IN THE ASIA PACIFIC REGION.

RESEARCH ECONOMIST AT CENTERS FOR DISEASE CONTROL AND PREVENTION
AS A PUBLIC HEALTH ECONOMIST, I WORK ON ANALYSES OF HEALTH SERVICES USE AND COSTS ASSOCIATED WITH CONGENITAL AND NEURODEVELOPMENTAL CONDITIONS (E.G., ADHD, AUTISM, CONGENITAL HEARING LOSS, SPINA BIFIDA) AND ASSOCIATED RISK FACTORS (E.G., PRETERM BIRTH OR CONGENITAL CMV INFECTION). I ALSO SEEK TO QUANTIFY HEALTH OUTCOMES AND ECONOMIC BENEFITS OF PUBLIC HEALTH STRATEGIES AND POLICIES, SUCH AS NEWBORN SCREENING AND FOLIC ACID FORTIFICATION.

DR. VINCENT CARSON EARNED A BACHELOR OF SCIENCE DEGREE IN BIOCHEMISTRY AND MOLECULAR BIOLOGY FROM PENN STATE UNIVERSITY IN 2004 AND A MEDICAL DEGREE FROM DREXEL UNIVERSITY IN 2011. HE COMPLETED HIS PEDIATRIC AND CHILD NEUROLOGY TRAINING AT THE CHILDREN’S HOSPITAL OF PITTSBURGH. HE HAS AFFILIATIONS WITH THE AMERICAN ACADEMY OF NEUROLOGY AND THE CHILD NEUROLOGY SOCIETY. IN 2020, DR. CARSON WAS PROMOTED TO CLINICAL OPERATIONS DIRECTOR AND JOINED THE CLINIC’S LEADERSHIP TEAM.
DR. CARSON GREW UP IN LANCASTER COUNTY AND FOLLOWED THE WORK OF THE CLINIC FOR MANY YEARS BEFORE JOINING THE STAFF IN 2016. HE HAS A SPECIAL INTEREST IN THE GENETICS OF BRAIN DISEASE. AS A NEUROLOGIST HE SPECIALIZES IN DISORDERS OF THE BRAIN, SPINAL CORD, NERVES, AND MUSCLES. HIS RESPONSIBILITIES AT THE CLINIC INCLUDE PROVIDING CARE FOR PATIENTS, SERVING ON THE ORGANIZATION’S ON-CALL ROTATION, READING EEGS, AND PARTICIPATING IN RESEARCH PROTOCOLS. DR. CARSON IS A CO-INVESTIGATOR ON CLINICAL TRIALS FOR SPINAL MUSCULAR ATROPHY (SMA) AND HAS GREAT INTEREST THE RESEARCH OF GENETICS AND NEUROGENETIC SYNDROMES.


PALESTRANTES INTERNACIONAIS CONFIRMADOS

PALESTRANTES INTERNACIONAIS CONFIRMADOS

( Haverá tradução simultânea)


MEDICA ENDOCRINOLOGA PEDIATRA
DRA DE LA UNIVERSIDAD DE BUENOS AIRES. AREA PEDIATRIA
MEDICA DE PLANTA DEL HTAL DE NIÑOS R GUTIERREZ BUENOS AIRES
INVESTIGADORA EN SALUD DEL CONICET. UNIDAD EJECUTORA CENTRO DE INVESTIGACIONES ENDOCRINOLÓGICAS ¨DR CESAR BERGADA¨ CONICET-FEI_ HOSPITAL DE NIÑOS R GUTIERREZ. BUENOS AIRES. ARGENTINA
INVESTIGADORA INDEPENDIENTE DEL GOBIERNO DE LA CIUDAD DE BUENOS AIRES
DIRECTORA DEL PROGRAMA DE PESQUISA NEONATAL DE LA FUNDACION DE ENDOCRINOLOGIA INFANTIL
COORDINADORA MEDICA DEL PROGRAMA DE PESQUISA NEONATAL DE GOBIERNO DE LA CIUDAD DE BUENOS AIRES
PROFESORA TITULAR DE ENDOCRINOLOGIA. FACULTAD DE MEDICINA UNIVERSIDAD DE SALVADOR
AREAS DE INTERÉS _ SCREENING NEONATAL, PATOLOGÍA TIROIDEA DE L AINFANCIA Y ADOLESCENCIA. FENILCETONURIA

LICENCIADA EM BIOQUÍMICA PELA UNIVERSIDADE DO PORTO 1994), ESPECIALISTA EM GENÉTICA HUMANA 2003), DESEMPENHA FUNÇÕES NA UNIDADE DE RASTREIO NEONATAL, METABOLISMO E GENÉTICA INSA-PORTO, DEPARTAMENTO DE GENÉTICA HUMANA), DESDE 2004.
INICIOU A SUA ATIVIDADE PROFISSIONAL EM 1994, NA ÁREA DAS DOENÇAS LISOSSOMAIS DE SOBRECARGA, À QUAL SE DEDICOU DURANTE 10 ANOS UNIDADE DO LISOSSOMA E DO PEROXISSOMA DO INSTITUTO DE BIOLOGIA MOLECULAR E CELULAR DA UNIVERSIDADE DO PORTO), PARTICIPANDO EM VÁRIOS PROJETOS NESTA ÁREA E DAQUI RESULTANDO O TRABALHO QUE LHE PERMITIU OBTER O GRAU DE DOUTOR EM CIÊNCIAS BIOMÉDICAS ICBAS - UP), COM A DISSERTAÇÃO “ARYLSULFATASE A: GENETIC EPIDEMIOLOGY AND STRUCTURE/ FUNCTION STUDIES” 2004).
DESDE 2004 DESENVOLVE A SUA ATIVIDADE NA ÁREA DO RASTREIO NEONATAL; PARTICIPOU NO ESTUDO PILOTO E NA IMPLEMENTAÇÃO A NÍVEL NACIONAL DO RASTREIO NEONATAL DAS DOENÇAS HEREDITÁRIAS DO METABOLISMO POR ESPECTROMETRIA DE MASSA 2004-2006), FOI RESPONSÁVEL PELO ESTUDO PILOTO PARA O RASTREIO NEONATAL DA FIBROSE QUÍSTICA 2013-2016), QUE RESULTOU NA INTEGRAÇÃO DESTA PATOLOGIA NO PAINEL DE DOENÇAS DO PROGRAMA NACIONAL DE RASTREIO NEONATAL EM 2018, E ATUALMENTE PARTICIPA NA IMPLEMENTAÇÃO A NÍVEL NACIONAL DO RASTREIO DA DREPANOCITOSE 2021). AO LONGO DESTES ANOS TEM CONTRIBUÍDO ATIVAMENTE PARA A ATUALIZAÇÃO E DIVULGAÇÃO DOS RESULTADOS DO PROGRAMA NACIONAL DE RASTREIO NEONATAL, QUER PELAS VÁRIAS PUBLICAÇÕES EM REVISTAS CIENTÍFICAS ESPECIALIZADAS INTERNACIONAIS, QUER PELA PARTICIPAÇÃO E APRESENTAÇÃO DE COMUNICAÇÕES EM REUNIÕES CIENTÍFICAS NACIONAIS E INTERNACIONAIS.

DR. BARBARA K. BURTON IS A PROFESSOR OF PEDIATRICS AT THE NORTHWESTERN UNIVERSITY FEINBERG SCHOOL OF MEDICINE AND AN ATTENDING PHYSICIAN IN THE DIVISION OF GENETICS, BIRTH DEFECTS AND METABOLISM AT THE ANN & ROBERT H. LURIE CHILDREN’S HOSPITAL OF CHICAGO. SHE IS BOARD CERTIFIED IN PEDIATRICS, CLINICAL GENETICS AND CLINICAL BIOCHEMICAL GENETICS. HER CLINICAL AND RESEARCH INTERESTS ARE FOCUSED ON INBORN ERRORS OF METABOLISM AND NEWBORN SCREENING. DR. BURTON IS AN INVESTIGATOR IN NUMEROUS NATURAL HISTORY STUDIES AND CLINICAL TRIALS OF NEW THERAPIES FOR VARIOUS METABOLIC DISORDERS INCLUDING PKU, FATTY ACID OXIDATION DISORDERS AND LYSOSOMAL STORAGE DISORDERS. SHE HAS PUBLISHED OVER 200 PEER-REVIEWED ARTICLES, 50 CHAPTERS IN BOOKS AND IS AN EDITOR OF TWO TEXTBOOKS. DR. BURTON IS ACTIVE IN PROFESSIONAL ORGANIZATIONS AND IS A PAST-PRESIDENT OF THE SOCIETY FOR INHERITED METABOLIC DISORDERS AND THE CHICAGO PEDIATRIC SOCIETY. SHE SERVED FOR FOUR YEARS AS A MEMBER OF THE SECRETARY’S ADVISORY COMMITTEE ON HERITABLE DISORDERS IN INFANTS AND CHILDREN, THE FEDERAL ADVISORY COMMITTEE THAT MAKES RECOMMENDATIONS REGARDING NEWBORN SEEING IN THE US AND CURRENTLY SERVES AS CHAIRMAN OF THE NEWBORN SCREENING ADVISORY COMMITTEE OF THE ILLINOIS DEPARTMENT OF PUBLIC HEALTH.

DR. CLAUDIA SOLER-ALFONSO RECEIVED HER MEDICAL DEGREE FROM EL BOSQUE UNIVERSITY, COLOMBIAN SCHOOL OF MEDICINE, BOGOTA, COLOMBIA IN 2004. SHE ALSO COMPLETED DUAL RESIDENCY TRAINING IN PEDIATRICS AND MEDICAL GENETICS AT THE UNIVERSITY OF TEXAS MEDICAL SCHOOL IN HOUSTON. SHE SUBSEQUENTLY TRAINED IN BIOCHEMICAL GENETICS AND METABOLIC DISORDERS AT THE CHILDREN’S HOSPITAL OF PHILADELPHIA. DR. SOLER-ALFONSO HAS AUTHORED NUMEROUS RESEARCH ITEMS IN THE FIELD OF BIOCHEMICAL GENETICS, AND SHE HAS SERVED ON THE PROGRAM COMMITTEE AT THE AMERICAN COLLEGE OF MEDICAL GENETICS AND IS A FELLOW OF THE AMERICAN BOARD OF MEDICAL GENETICS. SHE IS CURRENTLY AN ASSISTANT PROFESSOR OF HUMAN GENETICS AT BAYLOR COLLEGE OF MEDICINE AND A METABOLIC GENETICIST AT TEXAS CHILDREN’S HOSPITAL IN HOUSTON, TX. HER RESEARCH INTERESTS INCLUDE ORGANIC ACIDEMIAS, GLYCOGEN STORAGE DISORDERS, NEWBORN SCREENING, AND OTHER INBORN ERRORS OF METABOLISM INVOLVING CELLULAR ENERGY GENERATION.

MÉDICO GENETICISTA COM MESTRADO EM CIÊNCIAS MÉDICAS:MEDICINA E DOUTORADO EM GENÉTICA E BIOLOGIA MOLECULAR PELA UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL E PÓS DOUTORADO EM MEDICINA INDIVIDUALIZADA PELA MAYO CLINIC. ATUALMENTE É DIRETOR MÉDICO DO PROGRAMA DE DOENÇAS RARAS E NÃO DIAGNOSTICADAS DO CENTER FOR INDIVIDUALIZED MEDICINE DA MAYO CLINIC E PROFESSOR ASSOCIADO DE GENÉTICA MÉDICA DA MAYO CLINIC COLLEGE OF MEDICINE AND SCIENCE.

POSSUI GRADUAÇÃO EM BIOMEDICINA PELO INSTITUTO CENECISTA DE ENSINO SUPERIOR DE SANTO NGELO IESA). MESTRE EM CIÊNCIAS MÉDICAS PELA UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL UFRGS). DOUTORA EM GENÉTICA E BIOLOGIA MOLECULAR PELA UNIVERSITY OF DELAWARE UDEL, EUA). PÓS-DOUTORA PELO PPGBM-UFRGS. STAFF SCIENTIST NO GREENWOOD GENETIC CENTER, EUA. ATUALMENTE FAZ PARTE DO GRUPO DE PESQUISA EM DISPLASIA ESQUELÉTICA DO HOSPITAL ALFRED I. DUPONT, NEMOURS-EUA; COLABORADORA DO GRUPO EM MEDICINA TRANSFUSIONAL DO HCPA, E DO LABORATÓRIO DE GENÉTICA MOLECULAR-SGM/HCPA SERVIÇO COLABORADOR DA ORGANIZAÇÃO MUNDIAL DE SAÚDE-OMS). EDITORA TÉCNICA ASSISTENTE DO JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING. PRÊMIOS: 2017 YOUNG INVESTIGATOR AWARD-13TH ANNUAL WORLDSYMPOSIUM; 2017 THEODORE WOLF PRIZE- OUTSTANDING DISSERTATION IN THE PHYSICAL AND LIFE SCIENCES-DISSERTATION TITLE: DIAGNOSIS AND THERAPIES FOR MUCOPOLYSACCHARIDOSES; 2019 YOUNG INVESTIGATOR AWARD- 15TH ANNUAL WORLDSYMPOSIUM; 2020 GSEM YOUNG INVESTIGATOR AWARD- GSEM; 2020 DUSSAULT MEDAL- ISNS.

FRANÇOIS MAILLOT IS A PROFESSOR OF INTERNAL MEDICINE AT THE UNIVERSITY OF TOURS, FRANCE. HE IS THE HEAD OF THE DEPARTMENT OF INTERNAL MEDICINE WHICH IS PART OF A REFERENCE CENTER FOR INBORN ERRORS OF METABOLISM (IEM) AT THE UNIVERSITY HOSPITAL IN TOURS. PROFESSOR MAILLOT IS INVOLVED IN THE CARE AND TREATMENT OF ADULT PATIENTS WITH IEM. HE HAS A SIGNIFICATIVE PUBLICATIONS RECORD FOR PRIMARY RESEARCH ACROSS A WIDE ARRAY OF IEM. AMONG HIS RESEARCH ACTIVITIES, HE HAS STUDIED AND PUBLISHED PAPERS ABOUT ADULT AND MATERNAL PHENYLKETONURIA (PKU). PROFESSOR MAILLOT IS A MEMBER OF THE FRENCH NATIONAL SOCIETY FOR THE STUDY OF IEM (SFEIM) AND THE INTERNATIONAL SOCIETY FOR THE STUDY OF IEM (SSIEM), AND HAS BEEN INVOLVED IN THE EUROPEAN PKU GUIDELINES WORKING GROUP SINCE 2012.

JIM BONHAM IS CURRENTLY THE NATIONAL LABORATORY LEAD FOR THE NEWBORN SCREENING BLOOD SPOT PROGRAMME IN THE UK. HE IS ALSO PRESIDENT OF THE INTERNATIONAL SOCIETY FOR NEONATAL SCREENING WITH MORE THAN 500 MEMBERS IN 80 COUNTRIES.
IN 2012 HE LED A STUDY TO INTRODUCE ADDITIONAL INHERITED METABOLIC DISORDERS INTO THE NATIONAL NEWBORN SCREENING PROGRAMME IN THE UK. FOUR OF THESE WERE INCORPORATED AS PART OF THE PROGRAMME IN ENGLAND AND WALES FROM 2015.
HE HAS INTERESTS IN THE ORGANISATION, QUALITY AND EFFECTIVENESS OF NEWBORN SCREENING AND HOW THIS MIGHT BE OPTIMISED AND EXTENDED TO BENEFIT PATIENTS AND FAMILIES IN THE UK AND EUROPE AND MORE RECENTLY AS PART OF THE GLOBAL TASKFORCE ON NEWBORN SCREENING, TO LOW AND MIDDLE INCOME COUNTRIES.
PROF BONHAM HAS PLAYED AN ACTIVE ROLE IN SEVERAL NATIONAL AND INTERNATIONAL PROFESSIONAL ORGANISATIONS INCLUDING THE SSIEM, ROYAL COLLEGE OF PATHOLOGISTS, UKNSLN, METBIONET, NEQAS AND UKAS. HE HELPED FOUND THE BRITISH INHERITED METABOLIC DISEASE GROUP AND THE INTERNATIONAL EQA PROVIDER FOR INHERITED METABOLIC DISORDERS – ERNDIM.
HIS EFFORTS IN THESE AREAS WERE GENEROUSLY RECOGNISED BY THE AWARD OF AN MBE IN 2020

ASSISTANT PROFESSOR, NOVA MEDICAL SCHOOL | FACULDADE DE CIÊNCIAS MÉDICAS, UNIVERSIDADE NOVA DE LISBOA, PT, NUTRITIONIST, PHD, REFERENCE CENTRE OF INHERITED METABOLIC DISEASES, CENTRO HOSPITALAR UNIVERSITÁRIO LISBOA CENTRAL, PT, RESEARCHER, CENTER FOR HEALTH TECHNOLOGY AND SERVICES RESEARCH, PT
JÚLIO CÉSAR ROCHA IS A NUTRITIONIST (0438N – SPECIALIST IN CLINICAL NUTRITION), WITH A POST GRADUATE QUALIFICATION IN CLINICAL NUTRITION FROM THE FACULTY OF NUTRITION AND FOOD SCIENCES – UNIVERSITY OF PORTO (UP) AND HE HAS ALSO A PHD IN METABOLISM, AT THE FACULTY OF MEDICINE, UP.
HE HAS BEEN WORKING IN THE FIELD OF INBORN METABOLIC DISEASES SINCE 2003. HE IS ASSISTANT PROFESSOR AT NOVA MEDICAL SCHOOL TEACHING IN THE FIELD OF NUTRITION AND METABOLISM. HE IS ALSO MEMBER OF THE MULTIDISCIPLINARY CLINICAL TEAM AT THE REFERENCE CENTRE OF INHERITED METABOLIC DISEASES AT CENTRO HOSPITALAR UNIVERSITÁRIO LISBOA CENTRAL AND HE IS A RESEARCHER AT CINTESIS (CENTER FOR HEALTH TECHNOLOGY AND SERVICES RESEARCH).
HE IS COUNCIL MEMBER OF THE SSIEM (SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM), CHAIR OF THE DIETICIANS GROUP OF THE SSIEM (SSIEM-DG), CHAIR OF THE NUTRITION GROUP OF THE PORTUGUESE SOCIETY OF METABOLIC DISORDERS (SPDM-GN) AND PRESIDENT OF THE PORTUGUESE SOCIETY OF CLINICAL NUTRITION AND METABOLISM (SPNCM).
HE IS ALSO MEMBER OF THE WORKING GROUP OF THE EUROPEAN PHENYLKETONURIA GUIDELINES (EPG 2.0) UNDER THE UMBRELLA OF THE ESPKU (EUROPEAN SOCIETY FOR PHENYLKETONURIA AND ALLIED DISORDERS TREATED AS PHENYLKETONURIA). HE HAS BEEN ALSO MEMBER OF THE PKU EUROPEAN PARLIAMENT CROSS PARTY ALLIANCE, A JOINED GROUP OF MEMBERS OF THE EUROPEAN PARLIAMENT (MEP), EXPERTS AND CIVIL SOCIETY.
HE IS AUTHOR OF MORE THAN 65 INTERNATIONAL, INDEXED, SCIENTIFIC PUBLICATIONS AND HE HAS DONE MORE THAN 100 ORAL PRESENTATIONS/LECTURES/CONFERENCES IN MORE THAN 12 DIFFERENT COUNTRIES.

NUTRICIONISTA
MAGISTER EN NUTRICIÓN Y ALIMENTOS DEL INSTITUTO DE NUTRICIÓN Y TECNOLOGÍA DE LOS ALIMENTOS (INTA) DE LA UNIVERSIDAD DE CHILE.
HACE 3 AÑOS TRABAJO EN EL LABORATORIO DE ERRORES INNATOS DEL METABOLISMO DEL INTA, EN EL MANEJO NUTRICIONAL DURANTE EL PERIODO AGUDO Y EL CRÓNICO DE PACIENTES CON EIM.
PARTICIPO EN DOCENCIA DE BECADOS DEL ÁREA DE PEDIATRÍA, NEONATOLOGÍA Y NEUROLOGÍA. REALIZAMOS CURSOS DE PERFECCIONAMIENTO Y DIPLOMADOS ONLINE DIRIGIDO A PROFESIONALES DE LA SALUD CON INTERÉS EN MANEJO Y SEGUIMIENTO DE EIM.
PARTICIPO EN INVESTIGACIONES DE NUESTRO EQUIPO DE TRABAJO.

PROFESSOR HOFMAN IS A PAEDIATRIC ENDOCRINOLOGIST AND RESEARCHER BASED AT THE LIGGINS INSTITUTE, UNIVERSITY OF AUCKLAND. HE HAS BEEN INVOLVED IN CLINICAL RESEARCH FOR OVER 30 YEARS AND PUBLISHED OVER 230 PAPERS. HE HAS VARIED RESEARCH INTERESTS INCLUDING DEVELOPMENTAL ORIGINS OF ADULT HEALTH AND DISEASE, PAEDIATRIC OUTCOMES FROM ASSISTED REPRODUCTIVE TECHNOLOGIES AND NEW BORN SCREENING OUTCOMES OF CONGENITAL ADRENAL HYPERPLASIA AND HYPOTHYROIDISM. HE HAS BEEN PRESIDENT OF BOTH THE AUSTRALASIAN PAEDIATRIC ENDOCRINE SOCIETY AND THE ASIA-PACIFIC PAEDIATRIC ENDOCRINE SOCIETY AND IS INVOLVED IN PROMOTING ENDOCRINE TRAINING IN THE ASIA PACIFIC REGION AS WELL AS IMPROVING PAEDIATRIC ENDOCRINE CARE IN RESOURCE CONSTRAINED COUNTRIES IN THE ASIA PACIFIC REGION.

RESEARCH ECONOMIST AT CENTERS FOR DISEASE CONTROL AND PREVENTION
AS A PUBLIC HEALTH ECONOMIST, I WORK ON ANALYSES OF HEALTH SERVICES USE AND COSTS ASSOCIATED WITH CONGENITAL AND NEURODEVELOPMENTAL CONDITIONS (E.G., ADHD, AUTISM, CONGENITAL HEARING LOSS, SPINA BIFIDA) AND ASSOCIATED RISK FACTORS (E.G., PRETERM BIRTH OR CONGENITAL CMV INFECTION). I ALSO SEEK TO QUANTIFY HEALTH OUTCOMES AND ECONOMIC BENEFITS OF PUBLIC HEALTH STRATEGIES AND POLICIES, SUCH AS NEWBORN SCREENING AND FOLIC ACID FORTIFICATION.

DR. VINCENT CARSON EARNED A BACHELOR OF SCIENCE DEGREE IN BIOCHEMISTRY AND MOLECULAR BIOLOGY FROM PENN STATE UNIVERSITY IN 2004 AND A MEDICAL DEGREE FROM DREXEL UNIVERSITY IN 2011. HE COMPLETED HIS PEDIATRIC AND CHILD NEUROLOGY TRAINING AT THE CHILDREN’S HOSPITAL OF PITTSBURGH. HE HAS AFFILIATIONS WITH THE AMERICAN ACADEMY OF NEUROLOGY AND THE CHILD NEUROLOGY SOCIETY. IN 2020, DR. CARSON WAS PROMOTED TO CLINICAL OPERATIONS DIRECTOR AND JOINED THE CLINIC’S LEADERSHIP TEAM.
DR. CARSON GREW UP IN LANCASTER COUNTY AND FOLLOWED THE WORK OF THE CLINIC FOR MANY YEARS BEFORE JOINING THE STAFF IN 2016. HE HAS A SPECIAL INTEREST IN THE GENETICS OF BRAIN DISEASE. AS A NEUROLOGIST HE SPECIALIZES IN DISORDERS OF THE BRAIN, SPINAL CORD, NERVES, AND MUSCLES. HIS RESPONSIBILITIES AT THE CLINIC INCLUDE PROVIDING CARE FOR PATIENTS, SERVING ON THE ORGANIZATION’S ON-CALL ROTATION, READING EEGS, AND PARTICIPATING IN RESEARCH PROTOCOLS. DR. CARSON IS A CO-INVESTIGATOR ON CLINICAL TRIALS FOR SPINAL MUSCULAR ATROPHY (SMA) AND HAS GREAT INTEREST THE RESEARCH OF GENETICS AND NEUROGENETIC SYNDROMES.