Scientific advisory board

Meet the Asplenia experts, the amazing members of our Scientific Advisory Board and learn more about

Jean-Laurent Casanova, M.D., Ph.D.

Rockefeller University

  

Jean-Laurent Casanova was born in 1963 in Paris, where he received his M.D. in 1987 and his Ph.D. in 1992, after training at the Pasteur Institute in Paris (with Philippe Kourilsky) and the Ludwig Institute for Cancer Research in Lausanne (with Janet Maryanski and Rob MacDonald). Following a pediatric residency in Paris and a pediatric immunology-hematology fellowship at the Necker Hospital for Sick Children (with Claude Griscelli and Alain Fischer), he was appointed professor at Necker in 1999. There, with Laurent Abel, he cofounded the Laboratory of Human Genetics of Infectious Diseases. He led the experimental (wet) lab, whereas Dr. Abel led the computational (dry) lab. Dr. Casanova was named an international Howard Hughes Medical Institute research scholar from 2005 to 2008, while at Necker. He was appointed professor at the Rockefeller University in 2008 and named HHMI investigator in 2014. He and Dr. Abel maintained their lab in Paris, while running their new lab in NY. Most of the dry lab stayed in Paris with Dr. Abel, while most of the wet lab moved to NY with Dr. Casanova. 


Over the last 25 years, Dr. Casanova discovered and characterized the first monogenic etiologies for a variety of severe viral, bacterial, and fungal infections that predispose otherwise healthy infants, children, adolescents, and even adults to a single type of infectious disease. These discoveries, at the crossroads of microbiology, immunology, genetics, and medicine have provided compelling evidence that life-threatening infectious diseases can be caused by monogenic inborn errors of immunity. These studies have had important clinical implications, as they provided a basis for genetic counseling and led to new therapeutic approaches based on an understanding of the host component of infectious diseases. Moreover, they revealed disease mechanisms that apply to the pathogenesis of the same infections in other settings, including AIDS and immunosuppression. These studies also have had major biological implications, as they revealed the largely redundant function of host defense genes in natura, in the setting of a natural ecosystem governed by natural selection. 


Dr. Casanova was recipient of multiple international awards, including the Dautrebande Prize (Belgium, 2004), Richard Lounsbery Award (USA/France, 2008), E. Mead Johnson Award (USA, 2010), InBev Baillet-Latour Health Prize (Belgium, 2011), Ilse and Helmut Wachter Foundation Award (Austria, 2012), Milstein Award (USA, 2012), Robert Koch Award (Germany, 2014), Sanofi-Institut Pasteur Award (France, 2014), Stanley J. Korsmeyer Award (USA, 2016), and Inserm Grand Prix (France, 2016). He was elected to the EMBO (2005), USA National Academy of Sciences (2015), and USA National Academy of Medicine (2015). He serves as President of the Henry Kunkel Society. He is co-editor-in-chief of The Journal of Clinical Immunology. He is also an editor of The Journal of Experimental Medicine, Current Opinion in Immunology, and Proceedings of the National Academy of Sciences of the USA.

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ICA Description, Prevalence, diagnosis & treatment

Rockefeller University Professor and Howard Hughes Medical Institute Investigator Jean-Laurent Casanova, MD, PhD, shares some of his expert knowledge on Isolated Congenital Asplenia.

Description ICA 2019_Casanova Lab (docx)

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Licia Selleri, M.D., Ph.D.

University of California, San Francisco

I was born and raised in Modena, Italy, a city that gave many gifts to the entire world, including the voice of Luciano Pavarotti, tortellini, balsamic vinegar, and Ferrari cars. I was raised by wonderful parents who had an exemplary moral fabric and valued honesty, hard work, commitment, education, and knowledge. I completed my MD in Modena, Italy and then my PhD in Molecular Genetics in Holland at the Erasmus University. 


In 1990, I left Europe and came to the US, where I did a postdoc at the Salk Institute in one of the first three Human Genome Centers that were funded by the NIH. The years at the Salk Institute were breathtaking and they changed my life forever. There I had the unique opportunity to interact with awe-inspiring scientists like Francis Crick and Renato Dulbecco, both Nobel laureates, and with exceptional human beings like Jonas Salk, developer of the polio vaccine. Jonas had fulfilled his dream to create a collaborative environment where researchers could explore the basic principles of life and contemplate the wider implications of their discoveries for the future of humankind: this was the essence of the Salk Institute. And I was lucky to do research there in molecular genetics and genomics for 5 full years. After that I was at Stanford University as a senior research associate until 2001. It is at Stanford that I started to use genetic engineering to generate mouse models with loss of function for the PBX transcription factors, also known as HOX-cofactors. My work showed for the first time that these homeodomain proteins are major developmental regulators in the mammalian embryo. I left Stanford to start my laboratory at Cornell University Medical School in Manhattan just a couple of days before September 11 2001 when the Twin Towers fell. My start in NYC was neither easy nor light.  

 

During the past 17 years, my laboratory has studied the genetic and transcriptional basis of how elaborately patterned tissues and organs form during development and how perturbation of these processes cause birth defects. We have combined different genetic approaches, using the mouse as a model system, to understand the mechanisms underlying morphogenetic processes in the embryo. We have discovered that homeodomain-containing transcription factors of the PBX family are major developmental regulators of multiple organs, including the spleen and the craniofacial complex, through the transcriptional control of target genes within tissue-specific regulatory networks. Using genetically-engineered and ethylnitrosourea (ENU)-mutagenized mouse lines we have built models of human congenital diseases, including Isolated Congenital Asplenia and Cleft Lip/Palate.  

 

After my relocation to UCSF in December 2015, we started to leverage the strengths of additional animal model systems, including chick, pig, and human embryos, to understand the cellular, genetic, and regulatory mechanisms underlying morphogenesis of the embryonic face. Our ultimate goal is to use genome-wide and systems biology approaches to identify novel genes and regulatory networks that shape facial features, as well as their morphological variation, evolution, and perturbation in human congenital craniofacial diseases. Furthermore, we are expanding our studies of spleen development and its perturbations with the generation and characterization of mouse models that lack the function of Rpsa, the gene encoding a ribosomal-associated protein that is mutated in approximately 50% of the patients with Isolated Congenital Asplenia. 


University of California, San Francisco Department of Orofacial Sciences (School of Dentistry) Department of Anatomy (School of Medicine) Division: Program in Craniofacial Biology 

 

Fellowship(s) and Year(s): 1987 EMBO (European Molecular Biology Organization) PhD Fellowship 1987-88 Dutch Fellowship for Foreign Researchers, Erasmus University, Holland (19871988) 1989 AIRC (Associazione Italiana Ricerca Cancro) Fellowship 1989 NATO Fellowship (1989-1990) 1990 GIBCO BRL Life Sciences Prize, "The Art of Science" 1990 N.I.H. Fogarty Postdoctoral Fellowship (1990-1992) 1992 American Cancer Society Senior Postdoctoral Fellowship (1992-1994) 2001 Award from the French Ministry of Research & Education (Visiting Scholar at CEPH, Fondation Jean Dausset, Paris) 

 

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Spleen Development

University of California, San Francisco Researcher Licia Selleri, MD, PhD describes the work her lab does to model ICA in the mouse population to better understand the disease in humans.

TEAM4TRAVIS_ResearchSpleen Development_SelleriLab (pdf)

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Maurizio Risolino, Ph.D.

University of California, San Francisco

  

I am an Assistant Researcher in the Selleri lab at UCSF. I was born and raised in Lagonegro in the south of Italy. When I was 18, I moved to Napoli, where I spent almost 12 years furthering my education, earning a Master's Degree first, and then a PhD Degree in Cellular and Molecular Biotechnology from the Second University of Naples, Caserta, Italy.  From 2012 – 2014, I worked as a Research Fellow in Molecular Oncology (Dr. Pasquale Verde Laboratory), at the Institute of Genetics and Biophysics, CNR, Naples, Italy.


I have always had a deep interest in understanding the genetic and molecular basis underlying developmental processes and their perturbation in congenital diseases. I have a solid background in basic biology, with rigorous PhD training in molecular biology and molecular oncology. Specifically, during my PhD in the Institute of Genetics and Biophysics, CNR, in Napoli (Italia), I studied transcriptional networks involved in Epithelial-Mesenchymal Transition (EMT). With this study I was able to give a contribution in better understanding molecular mechanisms underlying metastasis formation in lung adenocarcinoma. 


In February 2014 I moved to New York City and joined the Dr. Selleri Lab as a Postdoctoral Fellow at the Weill Cornell Medical College of Cornell University. My postdoctoral and current research focuses on topics of mouse developmental genetics, mouse genetic engineering, and human molecular genetics. Specifically, I am interested in the study of the genetic and functional role of Rpsa, the gene encoding a ribosomal-associated protein that is mutated in approximately 50% of the patients with Isolated Congenital Asplenia. I have generated and I am currently characterizing a mouse model that lacks Rpsa to further understand the molecular basis underlying spleen organogenesis. This mouse model will help us to identify the crucial and specific role of Rpsa in spleen development and function, as well as, gain more information regarding Rpsa-dependent spleen disease. 


While I like to conduct my projects independently and with passion, I also enjoy collaborating with other researchers. Indeed, I am aware of the importance of team efforts and of the critical value of frequent interactions with other scientists so as to conduct robust and time-effective research that can ultimately benefit human health. 


After relocating as a Postdoctoral Fellow with the Selleri laboratory in 2015 to the University of California San Francisco Department of Orofacial Sciences and Department of Anatonomy, I have taken full advantage of the collaborative environment that UCSF offers to trainees, staff researchers, and faculty. I also participate in multiple seminars and research in progress forums that are held weekly. 


In 2016, while at UCSF, I received the Damsky Award, Program in Craniofacial Biology, Exploratory Grants Initiative for the years 2016-2017.


Recently I was promoted to Assistant Researcher in the Selleri Lab. This stimulating and nurturing atmosphere continues to be critical towards the development of my research projects, as well as my career as an independent investigator. On a personal note, I am honored to be part of T.E.A.M. 4 Travis, as Travis and I both have an Italian ancestry, with his great-grandfather growing up in a Southern Italian town a little more than 100 miles from where I grew up.

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Isabelle Meyts, M.D., Ph.D.

University Hospitals Leuven, Belgium

  


Isabelle Meyts obtained her medical degree at the University of Leuven, Belgium in 1999. In 2007 she obtained her license in Pediatrics as well as her PhD degree in 2007 with a work studying the role of Th subsets in allergic airway inflammation. At the University Hospitals Leuven, Belgium, in the Department of Pediatrics, she built the Pediatric Primary Immunodeficiency Unit and is responsible for the diagnosis and treatment of children affected by primary immunodeficiency. She has built expertise in hematopoietic stem cell transplantation for primary immunodeficiency. Her efforts led to the recognition of the Department of Primary Immunodeficiencies as a Jeffrey Modell Foundation Diagnostics and Research Center already in 2011. Her research centers on the genetic and functional unraveling of inborn errors of immunity. Recent focus has been on DADA2 and on various innate immune system disorders. In 2018 she was elected President of the European Society for Immunodeficiencies(ESID). ESID is the largest and oldest international society in the field of Primary Immunodeficiencies. 

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Emergency Care Policy and a Rare Condition: The Impact of Technology

Emergency Nurses Association President Patricia Kunz Howard, PhD, RN, writes about Travis,  the critical need for further medical education and awareness and improved technology which may help detect ICA before it leads to a fatal outcome in her President's Message appearing in the  September 2019 Journal of Emergency Nursing Online edition.

PK Howard Article on ICA (pdf)

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