Convidados Internacionais Confirmados

Alice B. Popejoy

Public Health Genetics PhD; Stat/Pop Gen. Computational evolutionary genomics and diversity. Ethical, legal, and social implications (ELSI). Black Lives Matter.

Alyssa Snider
VP of Clinical Genetic Services, Igenomix

MS in Genetic Counseling Aug 2012
- California State University, Stanislaus
- Thesis title: IVF Patient Preferences for eSET and Their Desire for Twins

PhD in Genetics Sept 2010
- Stanford University, Department of Genetics
- Dissertation Title: The Role of the Chromatin Remodeling Factor

Chd1l in Preimplantation Embryos and in Embryonic Stem Cells

BS in Cellular/Molecular Biology; BA in Chemistry Jun 2004
- California State University, Fresno
- Summa Cum Laude, with University Honors, GPA 3.91
- Smittcamp Family Honors College Scholar

Antonio Capalbo
Scientific and Laboratory Director Igenomix Italy

Dr. Capalbo received his Bachelor of Science degree in Biotechnology from University of Rome ‘La Sapienza’ and his Ph.D. magna cum laude in Human Genetics at the Catholic University of Sacred Heart of Rome in 2011. From 2008 to 2012 Dr. Capalbo has been working as clinical embryologist at GENERA, Reproductive Medicine in Rome. Since then, his research has focused on preimplantation genetic testing and on the development of novel molecular biology techniques to improve pregnancy and take-home baby rates in ART. He received several grants for innovative studies on these subjects. From 2012-2017 he was co-founder and Laboratory Director at GENETYX, largest PGT program in Italy. From 2017 he is working in the board of R&D directors at Igenomix and as Laboratory Director for Igenomix Italy.

Barbara Lerner
Investigator, Veterans Health Administration

Barbara Lerner is a certified genetic counselor with a PhD in Health Services Research from the Boston University School of Public Health. She is now a part-time investigator for Veterans Health Administration (VA). Her research focuses on the implementation and delivery of clinical genetic services and its effect on patients' health outcomes. Related projects have included the development of tools to assess the delivery of genetics services and to measure patient outcomes, the identification of factors that influence the adoption of genetic testing within VA medical centers and the coordination of genomics services between genetics providers and other healthcare providers. Dr. Lerner has practiced in a variety of roles as a clinical genetic counselor, a genetic testing company marketing manager and as a faculty member in the Brandeis University Genetic Counseling graduate program. For several of those years she was the program co-director for research and professional development Throughout her professional years, Dr. Lerner has been an active member of the National Society of Genetic Counselors and a regular peer reviewer for both the Journal of Genetic Counseling and Genetics in Medicine.

Barry Wolf
Professor of Pediatrics (Genetics, Birth Defects, and Metabolism)

Education:
MD: University of Illinois at Chicago College of Medicine
PhD: University of Illinois at Chicago College of Medicine)
Postgraduate Training:
Resident: Northwestern University, McGaw Medical Center (Children’s Memorial Hospital), Pediatrics
Fellow: Yale University School of Medicine, Pediatrics and Human Genetics

Carla Oliveira

2015-present Group Leader/Principal Investigator (tenure), Expression Regulation in Cancer Group, i3S Porto, PT
2013-present Group Leader/Principal Investigator (tenure), Ipatimup, Porto, PT
2013-present Co-founder, Scientific Head and CEO, Bioinf2Bio Bioinformatics Company, Porto, PT
2006-present Affiliated Professor, Dept. Pathology, Fac. Medicine, Univ. Porto, PT
2005-present Consultant for gastric-cancer related syndromes, IPATIMUP Diagnostics, Porto, PT
2011-2012 - Invited researcher, Max Planck Institute for Developmental Biology, Tubingen, DE (E. Isaurralde Lab)
2008-2012 - Junior Group Leader, Ipatimup, Porto, PT (Ciência 2008 – FCT)
2005-2008 - Team Leader, Ipatimup, Porto, PT (Agência de Inovação - FCT)
2004-2005 - Post-doc Researcher, Univ. British Columbia, Vancouver, CA (D. Huntsman Lab)
2002-2003 - Post-doc Researcher, Ipatimup, Porto, PT (R. Seruca Lab) & INSERM, Paris, FR (R. Hamelin Lab)
March-2002 - GABBA PhD in Human Biology, Fac. Medicine, Univ. Porto, PT
2001-2002 - Visiting Ph.D. student, Ipatimup, PT (R. Seruca Lab)
1999-2000 - Ph.D. student, CIMR - Cambridge Institute for Medical Research (C. Caldas Lab), Cambridge Univ., UK
1997-1998 - Research Fellowship, Ipatimup-Institute of Molecular Pathology and Immunology UPorto, PT
1991-1996 - Biochemistry Degree, Fac. Science and Technology, Univ. Coimbra, PT

H-INDEX = 60 (SCOPUS/ResearcherID) or 62 (GoogleScholar)
PUBLICATIONS: 172 peer-reviewed articles in the fields of Human Genetics and Molecular Oncology
Accumulated Impact Factor > 1.000,00: Citations: > 12.000

C. Oliveira is recognized internationally for her work in E-cadherin/CDH1-related diseases and hereditary cancer. She disclosed novel germline causes of Hereditary Gastrointestinal Cancer and defined somatic events in tumours with impact for patient management and therapy.
Her main scientific aim is to disclose the missing heritability in Hereditary Gastric Cancer. For this, her team aims at finding biomarkers with clinical utility for earlier detection of sporadic and hereditary gastric cancer and to disclose actionable genotype-phenotype relationships in these diseases. The social and economic impact of hereditary cancer is a transversal aspect in her research and she privileges the interaction with Patient’s associations, such as EVITA.

C. Oliveira has been a PI of projects funded with > 3.8M€ and team member in projects with equivalent total budget. She independently raised additional 2.5M€ for human resources. She was invited speaker in > 120 National and International conferences; she is the Executive Committee Secretary General of the European Society of Human Genetics (ESHG), member of its Scientific Program Committee and vice-coordinator of the Scientific Program Committee of the Portuguese Society of Human Genetics (SPGH); National Coordinators and Representative of the Porto.Comprehensive Cancer Centre (P.CCC) in the European Reference Network ERN-GENTURIS on genetic tumour risk syndromes, and; the head the Hereditary Diffuse Gastric Cancer branch of the SolveRD (Solving Rare diseases) EU-Project. She was a member of the Portuguese Group of Hereditary Tumours (PROGO) promoted by The Portuguese Society of Oncology. She is regular reviewer of National and International fellowship and grant applications. She successfully supervised 15 Masters and 14 PhD students to completion, 11 post-docs and recruited 4 junior project leaders (iFCT) for her team.
C. Oliveira’s group has also gained expertise and visibility in genomics and bioinformatics, due to active participation in international consortia and large European Projects including the European-wide research project SOLVE-RD – Solve Rare diseases; the Consortium GEUVADIS and GTEx; Several COST actions, as well as the Marie Skodowska-Curie Innovative Training Networks ITN TRAIN-EV. The group has relevant roles in management and executive functions in the GenomePT National Infrastructure for genome sequencing and the 1 Million European Genomes project. Her team is multidisciplinary with strong background in oncobiology and genetics, and supported by technical expertise in molecular and cellular biology, NGS, bioinformatics and a strong link with hospitals and clinical professionals. Her team was recently awarded with the Prize Alfredo da Silva on “Sustentabilidade de sistemas de saúde” for the work on optimized pathways of care in Hereditary cancer syndromes.

Cynthia M. Powell
Professor, Pediatric Genetics and Metabolism, the University of North Carolina School of Medicine

Dr. Cynthia Powell is a Professor of Pediatrics and Genetics at the University of North Carolina at Chapel Hill School of Medicine, where she sees patients, teaches students, residents and fellows, and participates in research. She is a board-certified clinical geneticist, cytogeneticist, pediatrician and genetic counselor. She completed her pediatric residency at Children's National Medical Center in Washington, D.C. and medical genetics fellowship at Children's National Medical Center and the National Institutes of Health. She is the current Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children and a member of the Board of Directors of the American College of Medical Genetics and Genomics. She is Past President of the Association of Professors of Human and Medical Genetics and the American Board of Medical Genetics and Genomics. She serves on the North Carolina Newborn Screening Advisory Committee and the North Carolina Genetics and Genomics Advisory Committee. Her research interests include newborn screening, genomics, birth defects and genetic syndromes. She led the North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) project, a five year project funded by NIH investigating the utility of next generation sequencing in newborns.

Daniel Pineda-Alvarez

Dr. Pineda-Alvarez is medical geneticist, board-certified clinical molecular geneticist and clinical cytogeneticist by the American Board of Medical Genetics and Genomics, is the Director of Medical Affairs for LATAM, and former Medical Director of Oncology at Invitae. Dr. Pineda-Alvarez has over 10 years of experience in clinical genetics diagnostics. During his tenue, he has led the implementation of numerous clinical laboratory tests, genomic variant interpretation, and reporting processes. He was instrumental in the development and launch of several genetic diagnostic tests in cytogenetics, oncology, cardiology, mitochondrial, metabolic, endocrine, neurologic and pediatric disorders. Dr. Pineda obtained his M.D from Universidad CES in Medellin, Colombia, and later pursued post-doctoral training at the Medical Genetics Branch of the National Human Genome Institute (NHGRI), NIH. Subsequently, he completed his American Board of Medical Genetics and Genomics (ABMGG)-accredited fellowship in clinical molecular genetics and clinical cytogenetics at the NIH Medical Genetics and Genomic Medicine Fellowship Training Program. Daniel co-authored numerous peer-reviewed scientific manuscripts in a broad variety of topics within the medical genetics field and participates in several workgroups in the Clinical Genome Resource (ClinGen), and the GCA - ICC seeking improved access, quality and consistency of genetic diagnostic tests.

Doron Gothelf

Professor Primary Sheba Medical Center Ramat Gan, Israel

Professor Sackler Faculty of Medicine, Tel Aviv University Tel Aviv, Israel

Filippo Vairo

Filippo Vairo is an Associate Consultant in the Department of Clinical Genomics and in the Center for Individualized Medicine (CIM) at Mayo Clinic where he is the Medical Director of the Program for Rare and Undiagnosed Disease (PRaUD). Also, he is Associate Professor of Medical Genetics in the Mayo Clinic College of Medicine and Science. He is member of the Translational Omics Program (TOP) where he has been aiding in establishing several innovative techniques to assist in patient practice in the area of individualized medicine. Also, he is involved in developing and/or implementing novel methodologies for the identification of genetic variation causing disease and to functionally validate variant pathogenicity to ultimately increase the number of patients receiving a genetic diagnosis. He has experience in the area of clinical genetics, inborn errors of metabolism, lysosomal diseases, and precision medicine. Dr Vairo’s research interests include new diagnostic tools and translational medicine.

Jeanne B. Lawrence

Professor of Neurology and Pediatrics University of Massachusetts Medical School

Julian D. Gillmore

Dr Gillmore is an internationally recognised scientist who is famous for his persistent work in the field of amyloidosis. He has specialised in this area during his MD and PhD programmes which were completed at Imperial College London (2001) and University College London (UCL, 2004), respectively. During his time at university, Dr. Gillimore did laboratory-based research on the “Studies of serum amyloid P component and antinuclear autoimmunity” as well as a clinical MD entitled: “Characterisation and treatment of hereditary and acquired systematic amyloidosis”. During his extensive career, he has worked at some of the most prestigious research centres in the world, including the Royal Free Campus and the National Amyloidosis Centre, UK. Dr. Gullmore is currently the Centre Head at the Centre for Amyloidosis and Acute Phase Proteins at UCL and a Prof. of Medicine & Honorary Consultant Nephrologist. Additionally, he has been a Reader and Honorary Consultant Nephrologist (2012-2017) where he continued spreading awareness and contributing to the fight against Amyloidosis.

He has developed a network of haematologists across the UK who have an interest in treating patients with the most common form of amyloidosis: AL type. Dr. Gullimore’s commitment to finding a cure led him to undertake the first randomized controlled trial of treatment in this most serious disease (AL type). He has worked closely with the UK Myeloma Forum and leaders in haematological cancer to achieve this difficult goal. Additionally, he has been involved in the foundation of a patient support group and was chair and principal author of the British Guidelines on the management of AL Amyloidosis (published in 2013).

Dr. Gillmore was the first scientist to systematically highlight the relationship between the abundance of amyloid fibril precursor proteins, the course of amyloid deposits and the clinical outcome in several different forms of Amyloidosis. His widely cited seminal paper published in the Lancet (2001) had a major impact on management of AA amyloidosis and amyloidosis generally. Among his publications, which were cited more than 15,000 times, is the study of: “Cardiac structural and functional consequences of amyloid deposition by cardiac magnetic resonance and echocardiography and their prognostic roles” which was first issued at the International Journal of Cardiovascular Imaging.

He has been involved in the development of many of the advances in therapy for systemic AL amyloidosis including novel chemotherapy regimens (CTD, bortezomib, and stem cell transplantation) and transplantation (cardiac and renal) over recent years. The survival of systemic AL amyloidosis has steadily improved due to these advancements. He has also made critical contributions to the evaluation and publication of the first recipients of orthotopic liver transplants as curative ‘surgical gene therapy’ in several hereditary forms of amyloidosis.

Lara Garcia Cela

Matthew Taylor
Professor, Department of Medicine, Division of Cardiology; Director, Adult Medical Genetics Program; Associate Director Genetics, Colorado Center for Personalized Medicine

My scientific background includes specific training and expertise in human genetic diseases with an emphasis in cardiovascular diseases.

My principle research efforts focus on hereditary cardiomyopathies. I oversee the US efforts in a large Familial Cardiomyopathy Registry (>1800 subjects) and coordinate DNA and clinical data collection for the research subjects. My lab focuses on gene discovery, genotype-phenotype analysis, functional cellular studies, heart failure rare variant analysis and transcriptomics, human induced-pluripotent stem cell derived cardiomyocytes (hiPSC-CMs), RNA sequencing, tissue engineering, and live-cell atomic force microscopy (AFM). Understanding the biological mechanisms of how cardiomyopathy mutations lead to a pathogenic phenotype is the long-term objective of my laboratory group. I also initiated our Institution's Biobank program, that currently has enrolled >150,000 adult patients, includes ongoing DNA collection, and has instituted genome-wide SNP analyses.

Clinically, I am board-certified in Internal Medicine and Clinical Genetics and I direct the Adult Medical Genetics Clinic, the only adult-focused genetics clinic in Colorado. This work provides a constant reminder of how expanding understanding of genetic disease mechanisms is critical to developing prognostic models and therapies. As an educator, several educational roles at our institution including: Block Director of a Year 1 medical school course, Clinical Investigation track director in the CTSI Clinical Science Program, Director of our BA-BS/MD diversity pipeline program. Formerly I served as an Assistant Dean overseeing years 1-2 of our medical school. Currently, I serve the ACGME facilitating their Chief Residency Leadership Training Programs. These experiences have been invaluable in helping me to lead a successful research team.

Marshall Summar
Division Chief, Genetics and Metabolism Director, Children's National Hospital

Marshall Summar, MD, is the Margaret O'Malley Professor of Genetic Medicine, Director of the Rare Disease Institute, and Chief of the Division of Genetics and Metabolism at the Children's National Hospital. He has served as the Chair of the National Organization for Rare Disorders and currently chairs NORD's Scientific and Medical Advisory Committee. He is a past President of The Society for Inherited Metabolic Disorders, he chaired PCORI's inaugural Rare Disease Advisory Panel, and serves on the steering committee and Co-Chairs the Research Committee for the Rare Disease Diversity Coalition sponsored by the Black Women's Health Imperative.

His research is focused on devices and treatments for patients with genetic and biochemical diseases and adapting knowledge from rare diseases to mainstream medicine. His work has resulted in new drugs in Food and Drug Administration (FDA) trials for patients with congenital heart disease and organic acidemias. He has over 70 issued patents and over 160 peer-reviewed papers.

Clinically, he launched, and leads the first clinical Rare Disease Institute (RDI) at Children's National Hospital. This program is the largest clinical division of its kind, treating more than 8,000 patients per year with rare diseases. He is active in newborn screening and telemedicine efforts to work in underserved areas. Dr. Summar received his MD degree from the University of Tennessee, completed a residency and internship in pediatrics at Vanderbilt University, and a fellowship in medical genetics at Vanderbilt University. He is board-certified in clinical genetics and medical biochemical genetics.

Nara Lygia Sobreira

Geneticista
Médica
Assistant Professor of Pediatrics
McKusick-Nathans Institute of Genetic Medicine - Johns Hopkins University

Peter Marinkovich

Peter Marinkovich, M.D., is an Associate Professor of Dermatology, a faculty member of the Program in Epithelial Biology and the Stanford Cancer Biology Program. He has an interest in inflammatory skin disease and is Director of the Stanford Bullous Disease and Psoriasis Clinics as well as an attending dermatologist at the VA Palo Alto Medical Center. Dr. Marinkovich’s research focuses on pathogenesis and therapy of epidermolysis bullosa, autoimmune blistering diseases, psoriasis and skin cancer.

Robert L. Nussbaum
Chief Medical Officer of Invitae

He is board certified in internal medicine, clinical genetics and clinical molecular genetics, and is a Fellow of the American College of Physicians and the American College of Medical Genetics and Genomics. From 2006-2015, he was the Holly Smith Professor of Medicine at UCSF, and Chief of the Division of Genomic Medicine. Before that he served in the Division of Intramural Research of the National Human Genome Research Institute, NIH, and, before NIH, was a Professor of Human Genetics, Pediatrics and Medicine at the University of Pennsylvania and an Associate Investigator of the Howard Hughes Medical Institute. He received an M.D. in 1975 from the Harvard-MIT Joint Program in Health Science and Technology, internal medicine training at Barnes Hospital/Washington University (1975-1978), and genetics training at Baylor College of Medicine (1978-1981). He is the co-author of 277 peer-reviewed publications in basic and applied human genetics as well as numerous commentaries, editorials, and textbook chapters. He was elected to the National Academy of Medicine (IOM) in 2004 and the American Academy of Arts and Sciences in 2015. Dr. Nussbaum served as a member of the Board of Directors and President of the American Society of Human Genetics, on the Board of Directors of the American Board of Medical Genetics and Genomics, and was a founding fellow and a member of the Board of Directors of the American College of Medical Genetics and Genomics.

Sonia Beatriz Margarit
Genetic Counselor / Genetics Assistant Professor - Clínica Alemana de Santiago, Santiago, Chile

Master in Health Psychology. School of Psychology. Pontifical Catholic University of Chile, Santiago, Chile 2011 - 2014.

Master in Human Genetics, Genetic Counseling Program. Sarah Lawrence College, Bronxville, New York, 1995 -1997.

Professor of Natural Sciences, National Teaching Staff of the Sarmiento Normal School, San Juan, Argentina, 1980 - 1984.

Stefan Kölker

Prof. Dr. Stefan KÖLKER, MD, Pediatrician with certified specializations in Pediatric Metabolic Medicine and Pediatric Neurology and Professor in Translational Metabolic Medicine and Pediatric Neurology is Head of the Division of Pediatric Neurology and Metabolic Medicine at the University Children’s Hospital in Heidelberg, Germany.

Tippi Mackenzie

Dr. Tippi MacKenzie, a pediatric surgeon at UCSF Benioff Children's Hospital and its Fetal Treatment Center, has special interests in fetal surgery, advanced laparoscopy, and endocrine and biliary surgery. She is a member of the Biomedical Sciences Program and Institute for Regeneration Medicine, with a research focus on stem cell transplantation in utero to treat genetic disease.

MacKenzie earned a medical degree at Stanford University and completed a general surgery residency at Brigham and Women's Hospital in Boston. She completed a pediatric surgery fellowship at the Children's Hospital of Philadelphia, where she held a clinical appointment in general, thoracic and fetal surgery.

Convidados Internacionais Confirmados

Alice B. Popejoy

Public Health Genetics PhD; Stat/Pop Gen. Computational evolutionary genomics and diversity. Ethical, legal, and social implications (ELSI). Black Lives Matter.

Alyssa Snider
VP of Clinical Genetic Services, Igenomix

MS in Genetic Counseling Aug 2012
- California State University, Stanislaus
- Thesis title: IVF Patient Preferences for eSET and Their Desire for Twins

PhD in Genetics Sept 2010
- Stanford University, Department of Genetics
- Dissertation Title: The Role of the Chromatin Remodeling Factor

Chd1l in Preimplantation Embryos and in Embryonic Stem Cells

BS in Cellular/Molecular Biology; BA in Chemistry Jun 2004
- California State University, Fresno
- Summa Cum Laude, with University Honors, GPA 3.91
- Smittcamp Family Honors College Scholar

Antonio Capalbo
Scientific and Laboratory Director Igenomix Italy

Dr. Capalbo received his Bachelor of Science degree in Biotechnology from University of Rome ‘La Sapienza’ and his Ph.D. magna cum laude in Human Genetics at the Catholic University of Sacred Heart of Rome in 2011. From 2008 to 2012 Dr. Capalbo has been working as clinical embryologist at GENERA, Reproductive Medicine in Rome. Since then, his research has focused on preimplantation genetic testing and on the development of novel molecular biology techniques to improve pregnancy and take-home baby rates in ART. He received several grants for innovative studies on these subjects. From 2012-2017 he was co-founder and Laboratory Director at GENETYX, largest PGT program in Italy. From 2017 he is working in the board of R&D directors at Igenomix and as Laboratory Director for Igenomix Italy.

Barbara Lerner
Investigator, Veterans Health Administration

Barbara Lerner is a certified genetic counselor with a PhD in Health Services Research from the Boston University School of Public Health. She is now a part-time investigator for Veterans Health Administration (VA). Her research focuses on the implementation and delivery of clinical genetic services and its effect on patients' health outcomes. Related projects have included the development of tools to assess the delivery of genetics services and to measure patient outcomes, the identification of factors that influence the adoption of genetic testing within VA medical centers and the coordination of genomics services between genetics providers and other healthcare providers. Dr. Lerner has practiced in a variety of roles as a clinical genetic counselor, a genetic testing company marketing manager and as a faculty member in the Brandeis University Genetic Counseling graduate program. For several of those years she was the program co-director for research and professional development Throughout her professional years, Dr. Lerner has been an active member of the National Society of Genetic Counselors and a regular peer reviewer for both the Journal of Genetic Counseling and Genetics in Medicine.

Barry Wolf
Professor of Pediatrics (Genetics, Birth Defects, and Metabolism)

Education:
MD: University of Illinois at Chicago College of Medicine
PhD: University of Illinois at Chicago College of Medicine)
Postgraduate Training:
Resident: Northwestern University, McGaw Medical Center (Children’s Memorial Hospital), Pediatrics
Fellow: Yale University School of Medicine, Pediatrics and Human Genetics

Carla Oliveira

2015-present Group Leader/Principal Investigator (tenure), Expression Regulation in Cancer Group, i3S Porto, PT
2013-present Group Leader/Principal Investigator (tenure), Ipatimup, Porto, PT
2013-present Co-founder, Scientific Head and CEO, Bioinf2Bio Bioinformatics Company, Porto, PT
2006-present Affiliated Professor, Dept. Pathology, Fac. Medicine, Univ. Porto, PT
2005-present Consultant for gastric-cancer related syndromes, IPATIMUP Diagnostics, Porto, PT
2011-2012 - Invited researcher, Max Planck Institute for Developmental Biology, Tubingen, DE (E. Isaurralde Lab)
2008-2012 - Junior Group Leader, Ipatimup, Porto, PT (Ciência 2008 – FCT)
2005-2008 - Team Leader, Ipatimup, Porto, PT (Agência de Inovação - FCT)
2004-2005 - Post-doc Researcher, Univ. British Columbia, Vancouver, CA (D. Huntsman Lab)
2002-2003 - Post-doc Researcher, Ipatimup, Porto, PT (R. Seruca Lab) & INSERM, Paris, FR (R. Hamelin Lab)
March-2002 - GABBA PhD in Human Biology, Fac. Medicine, Univ. Porto, PT
2001-2002 - Visiting Ph.D. student, Ipatimup, PT (R. Seruca Lab)
1999-2000 - Ph.D. student, CIMR - Cambridge Institute for Medical Research (C. Caldas Lab), Cambridge Univ., UK
1997-1998 - Research Fellowship, Ipatimup-Institute of Molecular Pathology and Immunology UPorto, PT
1991-1996 - Biochemistry Degree, Fac. Science and Technology, Univ. Coimbra, PT

H-INDEX = 60 (SCOPUS/ResearcherID) or 62 (GoogleScholar)
PUBLICATIONS: 172 peer-reviewed articles in the fields of Human Genetics and Molecular Oncology
Accumulated Impact Factor > 1.000,00: Citations: > 12.000

C. Oliveira is recognized internationally for her work in E-cadherin/CDH1-related diseases and hereditary cancer. She disclosed novel germline causes of Hereditary Gastrointestinal Cancer and defined somatic events in tumours with impact for patient management and therapy.
Her main scientific aim is to disclose the missing heritability in Hereditary Gastric Cancer. For this, her team aims at finding biomarkers with clinical utility for earlier detection of sporadic and hereditary gastric cancer and to disclose actionable genotype-phenotype relationships in these diseases. The social and economic impact of hereditary cancer is a transversal aspect in her research and she privileges the interaction with Patient’s associations, such as EVITA.

C. Oliveira has been a PI of projects funded with > 3.8M€ and team member in projects with equivalent total budget. She independently raised additional 2.5M€ for human resources. She was invited speaker in > 120 National and International conferences; she is the Executive Committee Secretary General of the European Society of Human Genetics (ESHG), member of its Scientific Program Committee and vice-coordinator of the Scientific Program Committee of the Portuguese Society of Human Genetics (SPGH); National Coordinators and Representative of the Porto.Comprehensive Cancer Centre (P.CCC) in the European Reference Network ERN-GENTURIS on genetic tumour risk syndromes, and; the head the Hereditary Diffuse Gastric Cancer branch of the SolveRD (Solving Rare diseases) EU-Project. She was a member of the Portuguese Group of Hereditary Tumours (PROGO) promoted by The Portuguese Society of Oncology. She is regular reviewer of National and International fellowship and grant applications. She successfully supervised 15 Masters and 14 PhD students to completion, 11 post-docs and recruited 4 junior project leaders (iFCT) for her team.
C. Oliveira’s group has also gained expertise and visibility in genomics and bioinformatics, due to active participation in international consortia and large European Projects including the European-wide research project SOLVE-RD – Solve Rare diseases; the Consortium GEUVADIS and GTEx; Several COST actions, as well as the Marie Skodowska-Curie Innovative Training Networks ITN TRAIN-EV. The group has relevant roles in management and executive functions in the GenomePT National Infrastructure for genome sequencing and the 1 Million European Genomes project. Her team is multidisciplinary with strong background in oncobiology and genetics, and supported by technical expertise in molecular and cellular biology, NGS, bioinformatics and a strong link with hospitals and clinical professionals. Her team was recently awarded with the Prize Alfredo da Silva on “Sustentabilidade de sistemas de saúde” for the work on optimized pathways of care in Hereditary cancer syndromes.

Cynthia M. Powell
Professor, Pediatric Genetics and Metabolism, the University of North Carolina School of Medicine

Dr. Cynthia Powell is a Professor of Pediatrics and Genetics at the University of North Carolina at Chapel Hill School of Medicine, where she sees patients, teaches students, residents and fellows, and participates in research. She is a board-certified clinical geneticist, cytogeneticist, pediatrician and genetic counselor. She completed her pediatric residency at Children's National Medical Center in Washington, D.C. and medical genetics fellowship at Children's National Medical Center and the National Institutes of Health. She is the current Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children and a member of the Board of Directors of the American College of Medical Genetics and Genomics. She is Past President of the Association of Professors of Human and Medical Genetics and the American Board of Medical Genetics and Genomics. She serves on the North Carolina Newborn Screening Advisory Committee and the North Carolina Genetics and Genomics Advisory Committee. Her research interests include newborn screening, genomics, birth defects and genetic syndromes. She led the North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) project, a five year project funded by NIH investigating the utility of next generation sequencing in newborns.

Daniel Pineda-Alvarez

Dr. Pineda-Alvarez is medical geneticist, board-certified clinical molecular geneticist and clinical cytogeneticist by the American Board of Medical Genetics and Genomics, is the Director of Medical Affairs for LATAM, and former Medical Director of Oncology at Invitae. Dr. Pineda-Alvarez has over 10 years of experience in clinical genetics diagnostics. During his tenue, he has led the implementation of numerous clinical laboratory tests, genomic variant interpretation, and reporting processes. He was instrumental in the development and launch of several genetic diagnostic tests in cytogenetics, oncology, cardiology, mitochondrial, metabolic, endocrine, neurologic and pediatric disorders. Dr. Pineda obtained his M.D from Universidad CES in Medellin, Colombia, and later pursued post-doctoral training at the Medical Genetics Branch of the National Human Genome Institute (NHGRI), NIH. Subsequently, he completed his American Board of Medical Genetics and Genomics (ABMGG)-accredited fellowship in clinical molecular genetics and clinical cytogenetics at the NIH Medical Genetics and Genomic Medicine Fellowship Training Program. Daniel co-authored numerous peer-reviewed scientific manuscripts in a broad variety of topics within the medical genetics field and participates in several workgroups in the Clinical Genome Resource (ClinGen), and the GCA - ICC seeking improved access, quality and consistency of genetic diagnostic tests.

Doron Gothelf

Professor Primary Sheba Medical Center Ramat Gan, Israel

Professor Sackler Faculty of Medicine, Tel Aviv University Tel Aviv, Israel

Filippo Vairo

Filippo Vairo is an Associate Consultant in the Department of Clinical Genomics and in the Center for Individualized Medicine (CIM) at Mayo Clinic where he is the Medical Director of the Program for Rare and Undiagnosed Disease (PRaUD). Also, he is Associate Professor of Medical Genetics in the Mayo Clinic College of Medicine and Science. He is member of the Translational Omics Program (TOP) where he has been aiding in establishing several innovative techniques to assist in patient practice in the area of individualized medicine. Also, he is involved in developing and/or implementing novel methodologies for the identification of genetic variation causing disease and to functionally validate variant pathogenicity to ultimately increase the number of patients receiving a genetic diagnosis. He has experience in the area of clinical genetics, inborn errors of metabolism, lysosomal diseases, and precision medicine. Dr Vairo’s research interests include new diagnostic tools and translational medicine.

Jeanne B. Lawrence

Professor of Neurology and Pediatrics University of Massachusetts Medical School

Julian D. Gillmore

Dr Gillmore is an internationally recognised scientist who is famous for his persistent work in the field of amyloidosis. He has specialised in this area during his MD and PhD programmes which were completed at Imperial College London (2001) and University College London (UCL, 2004), respectively. During his time at university, Dr. Gillimore did laboratory-based research on the “Studies of serum amyloid P component and antinuclear autoimmunity” as well as a clinical MD entitled: “Characterisation and treatment of hereditary and acquired systematic amyloidosis”. During his extensive career, he has worked at some of the most prestigious research centres in the world, including the Royal Free Campus and the National Amyloidosis Centre, UK. Dr. Gullmore is currently the Centre Head at the Centre for Amyloidosis and Acute Phase Proteins at UCL and a Prof. of Medicine & Honorary Consultant Nephrologist. Additionally, he has been a Reader and Honorary Consultant Nephrologist (2012-2017) where he continued spreading awareness and contributing to the fight against Amyloidosis.

He has developed a network of haematologists across the UK who have an interest in treating patients with the most common form of amyloidosis: AL type. Dr. Gullimore’s commitment to finding a cure led him to undertake the first randomized controlled trial of treatment in this most serious disease (AL type). He has worked closely with the UK Myeloma Forum and leaders in haematological cancer to achieve this difficult goal. Additionally, he has been involved in the foundation of a patient support group and was chair and principal author of the British Guidelines on the management of AL Amyloidosis (published in 2013).

Dr. Gillmore was the first scientist to systematically highlight the relationship between the abundance of amyloid fibril precursor proteins, the course of amyloid deposits and the clinical outcome in several different forms of Amyloidosis. His widely cited seminal paper published in the Lancet (2001) had a major impact on management of AA amyloidosis and amyloidosis generally. Among his publications, which were cited more than 15,000 times, is the study of: “Cardiac structural and functional consequences of amyloid deposition by cardiac magnetic resonance and echocardiography and their prognostic roles” which was first issued at the International Journal of Cardiovascular Imaging.

He has been involved in the development of many of the advances in therapy for systemic AL amyloidosis including novel chemotherapy regimens (CTD, bortezomib, and stem cell transplantation) and transplantation (cardiac and renal) over recent years. The survival of systemic AL amyloidosis has steadily improved due to these advancements. He has also made critical contributions to the evaluation and publication of the first recipients of orthotopic liver transplants as curative ‘surgical gene therapy’ in several hereditary forms of amyloidosis.

Lara Garcia Cela

Matthew Taylor
Professor, Department of Medicine, Division of Cardiology; Director, Adult Medical Genetics Program; Associate Director Genetics, Colorado Center for Personalized Medicine

My scientific background includes specific training and expertise in human genetic diseases with an emphasis in cardiovascular diseases.

My principle research efforts focus on hereditary cardiomyopathies. I oversee the US efforts in a large Familial Cardiomyopathy Registry (>1800 subjects) and coordinate DNA and clinical data collection for the research subjects. My lab focuses on gene discovery, genotype-phenotype analysis, functional cellular studies, heart failure rare variant analysis and transcriptomics, human induced-pluripotent stem cell derived cardiomyocytes (hiPSC-CMs), RNA sequencing, tissue engineering, and live-cell atomic force microscopy (AFM). Understanding the biological mechanisms of how cardiomyopathy mutations lead to a pathogenic phenotype is the long-term objective of my laboratory group. I also initiated our Institution's Biobank program, that currently has enrolled >150,000 adult patients, includes ongoing DNA collection, and has instituted genome-wide SNP analyses.

Clinically, I am board-certified in Internal Medicine and Clinical Genetics and I direct the Adult Medical Genetics Clinic, the only adult-focused genetics clinic in Colorado. This work provides a constant reminder of how expanding understanding of genetic disease mechanisms is critical to developing prognostic models and therapies. As an educator, several educational roles at our institution including: Block Director of a Year 1 medical school course, Clinical Investigation track director in the CTSI Clinical Science Program, Director of our BA-BS/MD diversity pipeline program. Formerly I served as an Assistant Dean overseeing years 1-2 of our medical school. Currently, I serve the ACGME facilitating their Chief Residency Leadership Training Programs. These experiences have been invaluable in helping me to lead a successful research team.

Marshall Summar
Division Chief, Genetics and Metabolism Director, Children's National Hospital

Marshall Summar, MD, is the Margaret O'Malley Professor of Genetic Medicine, Director of the Rare Disease Institute, and Chief of the Division of Genetics and Metabolism at the Children's National Hospital. He has served as the Chair of the National Organization for Rare Disorders and currently chairs NORD's Scientific and Medical Advisory Committee. He is a past President of The Society for Inherited Metabolic Disorders, he chaired PCORI's inaugural Rare Disease Advisory Panel, and serves on the steering committee and Co-Chairs the Research Committee for the Rare Disease Diversity Coalition sponsored by the Black Women's Health Imperative.

His research is focused on devices and treatments for patients with genetic and biochemical diseases and adapting knowledge from rare diseases to mainstream medicine. His work has resulted in new drugs in Food and Drug Administration (FDA) trials for patients with congenital heart disease and organic acidemias. He has over 70 issued patents and over 160 peer-reviewed papers.

Clinically, he launched, and leads the first clinical Rare Disease Institute (RDI) at Children's National Hospital. This program is the largest clinical division of its kind, treating more than 8,000 patients per year with rare diseases. He is active in newborn screening and telemedicine efforts to work in underserved areas. Dr. Summar received his MD degree from the University of Tennessee, completed a residency and internship in pediatrics at Vanderbilt University, and a fellowship in medical genetics at Vanderbilt University. He is board-certified in clinical genetics and medical biochemical genetics.

Nara Lygia Sobreira

Geneticista
Médica
Assistant Professor of Pediatrics
McKusick-Nathans Institute of Genetic Medicine - Johns Hopkins University

Peter Marinkovich

Peter Marinkovich, M.D., is an Associate Professor of Dermatology, a faculty member of the Program in Epithelial Biology and the Stanford Cancer Biology Program. He has an interest in inflammatory skin disease and is Director of the Stanford Bullous Disease and Psoriasis Clinics as well as an attending dermatologist at the VA Palo Alto Medical Center. Dr. Marinkovich’s research focuses on pathogenesis and therapy of epidermolysis bullosa, autoimmune blistering diseases, psoriasis and skin cancer.

Robert L. Nussbaum
Chief Medical Officer of Invitae

He is board certified in internal medicine, clinical genetics and clinical molecular genetics, and is a Fellow of the American College of Physicians and the American College of Medical Genetics and Genomics. From 2006-2015, he was the Holly Smith Professor of Medicine at UCSF, and Chief of the Division of Genomic Medicine. Before that he served in the Division of Intramural Research of the National Human Genome Research Institute, NIH, and, before NIH, was a Professor of Human Genetics, Pediatrics and Medicine at the University of Pennsylvania and an Associate Investigator of the Howard Hughes Medical Institute. He received an M.D. in 1975 from the Harvard-MIT Joint Program in Health Science and Technology, internal medicine training at Barnes Hospital/Washington University (1975-1978), and genetics training at Baylor College of Medicine (1978-1981). He is the co-author of 277 peer-reviewed publications in basic and applied human genetics as well as numerous commentaries, editorials, and textbook chapters. He was elected to the National Academy of Medicine (IOM) in 2004 and the American Academy of Arts and Sciences in 2015. Dr. Nussbaum served as a member of the Board of Directors and President of the American Society of Human Genetics, on the Board of Directors of the American Board of Medical Genetics and Genomics, and was a founding fellow and a member of the Board of Directors of the American College of Medical Genetics and Genomics.

Sonia Beatriz Margarit
Genetic Counselor / Genetics Assistant Professor - Clínica Alemana de Santiago, Santiago, Chile

Master in Health Psychology. School of Psychology. Pontifical Catholic University of Chile, Santiago, Chile 2011 - 2014.

Master in Human Genetics, Genetic Counseling Program. Sarah Lawrence College, Bronxville, New York, 1995 -1997.

Professor of Natural Sciences, National Teaching Staff of the Sarmiento Normal School, San Juan, Argentina, 1980 - 1984.

Stefan Kölker

Prof. Dr. Stefan KÖLKER, MD, Pediatrician with certified specializations in Pediatric Metabolic Medicine and Pediatric Neurology and Professor in Translational Metabolic Medicine and Pediatric Neurology is Head of the Division of Pediatric Neurology and Metabolic Medicine at the University Children’s Hospital in Heidelberg, Germany.

Tippi Mackenzie

Dr. Tippi MacKenzie, a pediatric surgeon at UCSF Benioff Children's Hospital and its Fetal Treatment Center, has special interests in fetal surgery, advanced laparoscopy, and endocrine and biliary surgery. She is a member of the Biomedical Sciences Program and Institute for Regeneration Medicine, with a research focus on stem cell transplantation in utero to treat genetic disease.

MacKenzie earned a medical degree at Stanford University and completed a general surgery residency at Brigham and Women's Hospital in Boston. She completed a pediatric surgery fellowship at the Children's Hospital of Philadelphia, where she held a clinical appointment in general, thoracic and fetal surgery.