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Newly discovered genetic malfunction causes rare lung disease

...The researchers, including Rockefeller’s Jean-Laurent Casanova and Institut Imagine’s Anna-Lena Neehus, recently published their results in Cell. The study also found that the children are missing half of their alveolar macrophages, which are located in the air sacs of the lungs....

Jean-Laurent Casanova appointed HHMI investigator

Jean-Laurent Casanova, senior attending physician at The Rockefeller University Hospital and head of the St. Giles Laboratory of Human Genetics of Infectious Diseases, has been named one of 27 new investigators with the Howard Hughes Medical Institute (HHMI), the nonprofit medical r...

An immune flaw may cause West Nile virus’s deadliest symptoms

...What is it that makes these select few so vulnerable? An international team of researchers led by Rockefeller University’s Jean-Laurent Casanova and Alessandro Borghesi of the San Matteo Research Hospital in Pavia, Italy, recently pinpointed the cause: an autoimmune defect that p...

Homing in on the genetics of severe COVID in children

...The patients are sick not because of the virus,” says Rockefeller geneticist Jean-Laurent Casanova. “They're sick because they excessively respond to the virus.” Inborn errors An enduring mystery of COVID has been its wildly varied impact on individuals, with one person getting a...

Eight Rockefeller scientists designated most influential researchers

...The 2022 list includes: Paul Bieniasz Marina Caskey Luciano Marraffini Jean-Laurent Casanova James G. Krueger Michel C. Nussenzweig Jeffrey V. Ravetch Charles M. Rice Clarivate selects influential scientists for its prestigious list by first compiling the most highly cited scient...

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The common thread in severe COVID-19 

...Two papers from the laboratory of Jean-Laurent Casanova previously demonstrated that at least 10 percent of severe cases can be chalked up to either a genetic condition that cripples IFN production, or misguided antibodies that attack those crucial proteins. Now, two new studies ...

Jean-Laurent Casanova honored with the Korsmeyer Award

Jean-Laurent Casanova, professor and head of the St. Giles Laboratory of Human Genetics of Infectious Diseases, is the recipient of the 2016 Stanley J. Korsmeyer Award for his work investigating the genetic basis of pediatric infectious diseases. The award, given by the American Soc...

Jean-Laurent Casanova to receive 2014 Robert Koch Award

Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases, has been awarded the 2014 Robert Koch Award from the Berlin, Germany based Robert Koch Foundation. Casanova shares the prize with Alain Fischer from the Collège de France and Ima...

Jean-Laurent Casanova receives the 2016 Inserm Grand Prix

Jean-Laurent Casanova, professor and head of the St. Giles Laboratory of Human Genetics of Infectious Diseases, has won the 2016 Inserm Grand Prix for his work on the genetic basis of infectious diseases. The prestigious award, given annually by Inserm—the French National Institute ...

A new institute devoted to research on global infectious disease is funded by a $75 million grant

...The institute will also support COVID research launched by geneticist Jean-Laurent Casanova at the outset of the pandemic. His effort to identify genetic differences that predispose some people to developing severe COVID-19 quickly evolved into a collaboration of extraordinary gl...

Jean-Laurent Casanova elected to the National Academy of Medicine

Jean-Laurent Casanova, who investigates genetic vulnerability to infectious diseases among children, has been elected to the U.S. National Academy of Medicine, the health and medicine arm of the National Academy of Sciences. Casanova is professor and head of the St. Giles Lab...

The genetic underpinnings of severe staph infections

...Rockefeller immunologist Jean-Laurent Casanova examined the protein-coding genomes of more than 100 patients who had suffered from unexplained severe staph infections. The common genetic thread linking some of th...

Leslie Vosshall and Jean-Laurent Casanova elected to the National Academy of Sciences

...Vosshall, Robin Chemers Neustein Professor and head of the Laboratory of Neurogenetics and Behavior, has been named a member, and Jean-Laurent Casanova, senior attending physician, professor, and head of the St. Giles Laboratory of Human Genetics of Infectious Diseases, has been ...

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Missing immune molecule may explain why some HPV patients sprout giant horn-like growths

...How could one virus provoke such a severe reaction in a select few, but leave most people symptom-free? In a new study published in Cell, Rockefeller’s Jean-Laurent Casanova answers this question by examining the genetics of an otherwise healthy patient who contracted a severe ca...

Rockefeller scientists launch a broad range of studies into novel coronavirus

...Rockefeller’s Jean-Laurent Casanova is the world leader in identifying gene mutations responsible for extreme variations in infectious disease outcomes. This research can identify human genes that are essential for resisting viral infection or whose mutation prevents the virus fr...

Jean-Laurent Casanova honored with 2014 Sanofi-Institut Pasteur Award

Jean-Laurent Casanova, professor and head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University, has been named a 2014 Sanofi-Institut Pasteur Award winner for his paradigm-shifting discovery of the role of single-gene mutations in infect...

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How one patient’s rare mutation helped solve a mycobacterial mystery

...The lab of Jean-Laurent Casanova, which has spent 25 years studying the interplay between human genes and mycobacterial disease, continues to uncover the genetic defects that separate those who develop serious infections from those who remain symptomless after being exposed to my...

Rockefeller scientists investigate life-threatening inflammation affecting children with COVID-19

...We may find a genetic clue that could help explain what is driving this severe complication in these children, which can in turn inform their clinical care,” says Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller U...

Jean-Laurent Casanova to receive 2012 Milstein Award

Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases, has been named the Seymour and Vivian Milstein Award for Excellence in Interferon and Cytokine Research 2012 laureate. He will receive the prize at the annual meeting of the Internation...

The gene hunt to explain why some young, healthy people die from COVID-19

...Infectious diseases are always an interplay between a pathogen and the host’s immunity,” says Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University. “At least some of these patients may suffer from a genetic...

Jeffrey V. Ravetch to receive 2018 Robert Koch Award

...Rice in 2015 for studies of the hepatitis C virus, Jean-Laurent Casanova in 2014 for work on genetic susceptibility to infectious disease, and Ralph Steinman in 1999 for discovering dendritic cells and their influence on immunity. René Jules Dubos was the first Rockefeller recipi...

Scientists trace severe COVID-19 to faulty genes and autoimmune condition

...These findings provide compelling evidence that the disruption of type I interferon is often the cause of life-threatening COVID-19,” says Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University and a Howard H...

Jean-Laurent Casanova honored with Belgium’s highest scientific prize

Jean-Laurent Casanova, professor and head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at Rockefeller University, has received the 2011 InBev-Baillet Latour Health Prize for his pioneering work on the identification of genes that predispose for human infectio...

Patient with unusually severe infection leads scientists to a rare type of immune deficiency

...An unexpected life-threatening infectious disease that is not explained by a compromised immune system often turns out to be a genetic disorder,” says lead investigator Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at Rockefeller...

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Researchers find genetic link to tuberculosis

...Now, Rockefeller scientist Jean-Laurent Casanova has identified a genetic condition that makes the immune system susceptible to mycobacterial attack. Last year, Casanova showed that the risk of developing TB is heightened in people who have two copies of a particular varia...

Llamas immune to coronavirus, what zebrafish are thinking, and other memorable science stories of 2020 

...Shortly thereafter, Jean-Laurent Casanova and colleagues made headlines with two reports revealing that people with the most severe cases of the disease frequently lack interferon I, a cluster of proteins that repel viruses, providing the first molecular explanation for why some ...

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In brief: Mutation explains why some people are more vulnerable to viral brain infection

...Rockefeller’s Jean-Laurent Casanova has identified mutations in a single gene that may explain what goes wrong in cases of encephalitis of the brain stem, the part of the brain that controls many basic functions including heart rate and breathing. Shen-Ying Zhang, assistant profe...

Milestones

...Jean-Laurent Casanova, the 2011 InBev-Baillet Latour Health Prize, Beligum’s highest scientific honor. With a value of 250,000 euros, the InBev-Baillet prize recognizes the practical application of basic research; Dr. Casanova is honored for his work on the identification ...

Study pinpoints rare genetic change that may boost risk of HPV-related illness

...We’ve cracked the enigma of why the boys developed these warts,” says lead investigator Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases. The findings add to a growing body of evidence that is changing how researchers think about in...

In the News - Newsweek - Casanova

...Jean-Laurent Casanova, a professor at Rockefeller University who studies how genetic coding can make a person more susceptible to disease. 'If we continue to rely solely on antibiotics, we are going to have a problem.'"

Researchers uncover molecular mechanisms of rare skin disease

...Led by Rockefeller scientist Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases, a group of researchers recently elucidated the molecular mechanisms that make people with EV vulnerable to ß-HPVs. In a new study, published in the Journ...

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Genetic mutation identified as culprit in rare infectious disease

...In an article published in eLife, Jean-Laurent Casanova has uncovered the human genetics factors that make these outliers susceptible to infection. His team suspected that Whipple’s is the latest in a growing number of genetic defects that increases people’s vulnerability to spec...

Awards, arrivals, and promotions

Congratulations to our latest award winners: Jean-Laurent Casanova has been recognized with the Stanley J. Korsmeyer Award for his work investigating the genetic basis of pediatric infectious diseases. The award is given by the American Society for Clinical Investigation, an honor s...

Study identifies genetic mutation responsible for tuberculosis vulnerability

...Hoping to better understand why only some people are prone to TB, Jean-Laurent Casanova worked with clinicians across the world to collect DNA samples from patients with active forms of the disease. By analyzing these samples, the researchers discovered that the risk of developin...

Rockefeller hosts the first New York City symposium on human genetics

...Spearheaded by Rockefeller professor Jean-Laurent Casanova, who is working closely with physician-scientist Bruce Gelb at Icahn School of Medicine at Mount Sinai and geneticist David Goldstein at Columbia University, the group plans to organize two meetings annually. “The goal is...

Researchers develop gene-filtering tool to identify disease-causing mutations

...A new tool, developed by scientists in Jean-Laurent Casanova’s St. Giles Laboratory of Human Genetics of Infectious Diseases at Rockefeller University aims to predict whether a given human gene is likely to harbor disease-causing mutations. The hope is that their tool, described ...

New research explains why a common bacterium can produce severe illness

...Jean-Laurent Casanova, head of St. Giles Laboratory of Human Genetics of Infectious Diseases and Howard Hughes Medical Institute Investigator, led a team of researchers to uncover how two different conditions—a genetic immunodeficiency and delayed acquired immunity—can combine to...

Michel C. Nussenzweig wins 2017 Sanofi-Institut Pasteur Award

...Ravetch in 2012 and Jean-Laurent Casanova in 2014.

Awards, arrivals, and promotions

...Jean-Laurent Casanova has been elected to the National Academy of Medicine, the health and medicine arm of the National Academy of Sciences. In what is considered one of the highest honors in medicine, new members are elected to the academy based on their outstanding professional...

Talking Science lecture introduces students to the genetic aspects of infectious diseases

As he opened this year’s Talking Science lecture, geneticist Jean-Laurent Casanova made a stark observation to his teenage audience: “If we had been here 150 years ago, about half of you would already have died.” The primary reason, he told the 350 high school students and 60 teache...

Charles Rice wins Belgium’s highest scientific prize

...Jean-Laurent Casanova, professor and head of the St. Giles Laboratory of Human Genetics of Infectious Diseases, won the award in 2011.

Charles Rice to receive 2015 Robert Koch Award

...The announcement marks the second consecutive year that a Rockefeller faculty member has received the Robert Koch Award; last year’s award went to Jean-Laurent Casanova for his work on understanding host genes and their products in infectious diseases. In addition, Ralph Steinman...

Michel C. Nussenzweig honored with the 2016 Robert Koch Award

...Jean-Laurent Casanova received the prize in 2014 for his work on understanding host genes and their products in infectious diseases, and Charles Rice won it last year for his groundbreaking work on the hepatitis C virus. In addition, Ralph Steinman won in 1999 for discovering den...

In the News - NPR - Casanova

...The response to influenza is genetically impaired,' says [Jean-Laurent] Casanova. He's hoping that the study will catch the interest of other pediatricians and lead to more patients offering their genomes for further research."

New England Journal of Medicine 369: 1704-1714 (10-31-13)

Vincent, Luyan Liu, Sophie Cypowyj, Carolina Prando, Mélanie Migaud, Lynda Taibi, Aomar Ammar-Khodja, Omar Boudghene Stambouli, Boumediene Guellil, Frederique Jacobs, Jean-Christophe Goffard, Kinda Schepers, Véronique del Marmol, Lobna Boussofara, Mohamed Denguezli, Molka Larif, Hervé Bachelez, L...

Immunity 39: 676-686 (10-17-13)

Immunity 39: 676-686 An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis Bertrand Boissonsend, Chenhui Wang, Vincent Pedergnana, Ling Wu, Sophie Cypowyj, Michel Rybojad, Aziz Belkadi, Capucine Picard, Laurent Abel, Claire Fieschi, Anne ...

Genetic mutation helps explain why, in rare cases, flu can kill

...Years after her ordeal, which she survived, scientists led by Jean-Laurent Casanova discovered that it could be explained by a rare mutation she carries that prevented her from producing a protein, interferon, that helps fight off the virus. “This is the first example of a common...

A new web tool effectively prioritizes disease-causing genes by biological distance

...Giles Laboratory of Human Genetics of Infectious Disease led by Jean-Laurent Casanova. “It wasn’t enough for the system to work, we needed to make it widely accessible, and we have accomplished that, in part, thanks to the efforts of two high school students,” Itan says. The stud...

Gene is linked to deadly runaway fungal infection

...Jean-Laurent Casanova, head of the Laboratory of Human Genetics of Infectious Diseases, and colleagues examined the genomes of 17 people who had deep dermatophytosis but were otherwise healthy — their immune systems were working well and should have been able to fight off infecti...

Scientists discover gene mutation that causes children to be born without spleen

...Giles lab, headed by Jean-Laurent Casanova, set out to identify the gene responsible for isolated congenital asplenia. He and his colleagues conducted an international search for patients, and identified 38 affected individuals from 23 families in North and South America, Europe ...

Proceedings of the National Academy of Sciences USA online: March 18, 2013

Proceedings of the National Academy of Sciences USA online: March 18, 2013 The human gene connectome as a map of short cuts for morbid allele discovery Yuval Itana, Shen-Ying Zhang, Guillaume Vogt, Avinash Abhyankar, Melina Herman, Patrick Nitschke, Dror Fried, Lluis Quintana-Murci, Laurent Abel ...

Science online: April 11, 2013

Pollard, Catherine Gaud, Pierre Frange, Daniel Orbach, Jean-Francois Emile, Jean-Louis Stephan, Ricardo Sorensen, Alessandro Plebani, Lennart Hammarstrom, Mary Ellen Conley, Licia Selleri and Jean-Laurent Casanova

Journal of Experimental Medicine 210: 2739-2753 (11-18-13)

...Holland, Gulbu Uzel, Jean-Laurent Casanova, Cindy S. Ma and Stuart G. Tangye

The Journal of Experimental Medicine online: August 7, 2012

White, Laurent Abel, Shen-Ying Zhang and Jean-Laurent Casanova

The Journal of Clinical Investigation online: August 1, 2012

Williams, Jean-Laurent Casanova and Emmanuelle Jouanguy

Nature online: October 28, 2012

...Daley, Laurent Abel, Jean-Laurent Casanova, Lorenz Studer and Luigi D. Notarangelo

Nature Immunology online: October 28, 2012

Nature Immunology online: October 28, 2012 Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency Bertrand Boisson, Emmanuel Laplantine, Carolina Prando, Silvia Giliani, Elisabeth  Israelsson, Zhaohui Xu, Avinash Abhyankar, Laura Israël, Girald...

The Journal of Experimental Medicine 209: 1813-1823 (9-24-12)

The Journal of Experimental Medicine 209: 1813-1823 Macrophages induce differentiation of plasma cells through CXCL10/IP-10 Wei Xu, HyeMee Joo, Sandra Clayton, Melissa Dullaers, Marie-Cecile Herve, Derek  Blankenship, Maria Teresa De La Morena, Robert Balderas, Capucine Picard, Jean-Laurent
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