Volume 25 Issue 12, December 2019

Volume 25 Issue 12

Polycystic ovary syndrome crosses generations

Polycystic ovary syndrome affects up to 17% of women of reproductive age and is associated with reduced fertility, type 2 diabetes and other detrimental health effects. In this issue, Stenor-Victorin and colleagues show that daughters of women with this syndrome are at five times greater risk of developing the disease. Prenatal exposure to androgen hormones, not obesity during pregnancy, may be the culprit of this transgenerational effect.

See: Stenor-Victorin and colleagues

Image credit: Agnes Zingmark and Mattias Karlen. Cover design: Erin Dewalt

Editorial

  • Editorial |

    The recent report of an antisense oligonucleotide therapy designed for only one patient spotlights regulatory, economic and ethical issues that must be grappled with in an era of accelerated development of ‘ultra-personalized’ drugs.

Year in Review

News Feature

Turning Points

  • Turning Points |

    Rachel Ramoni is chief research and development officer for the Department of Veterans Affairs, where she oversees 2,000 active projects at more than 100 sites.

    • Rachel Ramoni
  • Turning Points |

    Julie Makani is an associate professor in the Department of Haematology and Blood Transfusion at Muhimbili University of Health and Allied Sciences in Dar es Salaam, where she helped Tanzania establish one of the world’s largest single-center study cohorts for sickle cell disease. She received the 2011 Royal Society Africa Award on the translation of genomics to health benefits.

    • Julie Makani

Comment

  • Comment |

    With the growing number of efficient gene therapies on the market, now is the time to take actions to ensure reasonable pricing of gene therapy products. Among these, we propose to incentivize gene therapy companies to adopt a status that translates their corporate social responsibility into concrete commitments.

    • Alain Fischer
    • , Mathias Dewatripont
    •  & Michel Goldman

    Innovations In:

News & Views

  • News & Views |

    Enteroviral infection persistence as determined by host genetic susceptibility, rather than independent, short-lived infections, may contribute to islet autoimmunity and be a precursor to the development of type 1 diabetes.

    • Bart O. Roep
  • News & Views |

    There is a transgenerational increase in the susceptibility of female offspring to developing PCOS that occurs via the female germline and is linked to fetal exposure to excess androgen.

    • H. M. Picton
    •  & A. H. Balen
  • News & Views |

    Ultra-deep sequencing of paired plasma-circulating free DNA and white blood cells allows the identification of tumor-derived somatic mutations with high accuracy by filtering out variants consistent with clonal hematopoiesis.

    • Beatriz Bellosillo
    •  & Clara Montagut

Perspectives

  • Perspective |

    Systemic chronic inflammation increases with age and is linked to the development of several diseases, as presented in this Perspective.

    • David Furman
    • , Judith Campisi
    • , Eric Verdin
    • , Pedro Carrera-Bastos
    • , Sasha Targ
    • , Claudio Franceschi
    • , Luigi Ferrucci
    • , Derek W. Gilroy
    • , Alessio Fasano
    • , Gary W. Miller
    • , Andrew H. Miller
    • , Alberto Mantovani
    • , Cornelia M. Weyand
    • , Nir Barzilai
    • , Jorg J. Goronzy
    • , Thomas A. Rando
    • , Rita B. Effros
    • , Alejandro Lucia
    • , Nicole Kleinstreuer
    •  & George M. Slavich

Matters Arising

Brief Communications

  • Brief Communication |

    Inhibition of CSF-1R with recurrent activating alterations and other actionable targets identified by genomic sequencing elicits clinical activity in patients with histiocytosis.

    • Benjamin H. Durham
    • , Estibaliz Lopez Rodrigo
    • , Jennifer Picarsic
    • , David Abramson
    • , Veronica Rotemberg
    • , Steven De Munck
    • , Erwin Pannecoucke
    • , Sydney X. Lu
    • , Alessandro Pastore
    • , Akihide Yoshimi
    • , Diana Mandelker
    • , Ozge Ceyhan-Birsoy
    • , Gary A. Ulaner
    • , Michael Walsh
    • , Mariko Yabe
    • , Kseniya Petrova-Drus
    • , Maria E. Arcila
    • , Marc Ladanyi
    • , David B. Solit
    • , Michael F. Berger
    • , David M. Hyman
    • , Mario E. Lacouture
    • , Caroline Erickson
    • , Ruth Saganty
    • , Michelle Ki
    • , Ira J. Dunkel
    • , Vicente Santa-María López
    • , Jaume Mora
    • , Julien Haroche
    • , Jean-Francois Emile
    • , Olivier Decaux
    • , Frederic Geissmann
    • , Savvas N. Savvides
    • , Alexander Drilon
    • , Eli L. Diamond
    •  & Omar Abdel-Wahab

Letters

  • Letter |

    Aptamer-based proteomic analysis of plasma from healthy individuals aged 18–95 years reveals wave-like patterns of protein expression that are associated with age-related diseases and phenotypic traits.

    • Benoit Lehallier
    • , David Gate
    • , Nicholas Schaum
    • , Tibor Nanasi
    • , Song Eun Lee
    • , Hanadie Yousef
    • , Patricia Moran Losada
    • , Daniela Berdnik
    • , Andreas Keller
    • , Joe Verghese
    • , Sanish Sathyan
    • , Claudio Franceschi
    • , Sofiya Milman
    • , Nir Barzilai
    •  & Tony Wyss-Coray
  • Letter |

    Large-scale aptamer-based scanning of plasma proteins coupled with machine learning demonstrates proof-of-concept and feasibility of an individualized health check using a single blood sample.

    • Stephen A. Williams
    • , Mika Kivimaki
    • , Claudia Langenberg
    • , Aroon D. Hingorani
    • , J. P. Casas
    • , Claude Bouchard
    • , Christian Jonasson
    • , Mark A. Sarzynski
    • , Martin J. Shipley
    • , Leigh Alexander
    • , Jessica Ash
    • , Tim Bauer
    • , Jessica Chadwick
    • , Gargi Datta
    • , Robert Kirk DeLisle
    • , Yolanda Hagar
    • , Michael Hinterberg
    • , Rachel Ostroff
    • , Sophie Weiss
    • , Peter Ganz
    •  & Nicholas J. Wareham
  • Letter |

    A new assay combining genotypic and phenotypic information accelerates accurate clinical antibiotic susceptibility testing.

    • Roby P. Bhattacharyya
    • , Nirmalya Bandyopadhyay
    • , Peijun Ma
    • , Sophie S. Son
    • , Jamin Liu
    • , Lorrie L. He
    • , Lidan Wu
    • , Rustem Khafizov
    • , Rich Boykin
    • , Gustavo C. Cerqueira
    • , Alejandro Pironti
    • , Robert F. Rudy
    • , Milesh M. Patel
    • , Rui Yang
    • , Jennifer Skerry
    • , Elizabeth Nazarian
    • , Kimberly A. Musser
    • , Jill Taylor
    • , Virginia M. Pierce
    • , Ashlee M. Earl
    • , Lisa A. Cosimi
    • , Noam Shoresh
    • , Joseph Beechem
    • , Jonathan Livny
    •  & Deborah T. Hung
  • Letter |

    Analysis of known viruses in stool samples from young children with high genetic risk for type 1 diabetes shows that sustained enterovirus B (EV-B) infections, rather than independent, short-duration EV-B infections, might be involved in the development of islet autoimmunity, but not type 1 diabetes.

    • Kendra Vehik
    • , Kristian F. Lynch
    • , Matthew C. Wong
    • , Xiangjun Tian
    • , Matthew C. Ross
    • , Richard A. Gibbs
    • , Nadim J. Ajami
    • , Joseph F. Petrosino
    • , Marian Rewers
    • , Jorma Toppari
    • , Anette G. Ziegler
    • , Jin-Xiong She
    • , Ake Lernmark
    • , Beena Akolkar
    • , William A. Hagopian
    • , Desmond A. Schatz
    • , Jeffrey P. Krischer
    • , Heikki Hyöty
    •  & Richard E. Lloyd

Articles

  • Article |

    Herpes simplex virus-1 encephalitis is linked to variants in a small nucleolar RNA, suggesting a new mechanism for antiviral immunity in cortical neurons.

    • Fabien G. Lafaille
    • , Oliver Harschnitz
    • , Yoon Seung Lee
    • , Peng Zhang
    • , Mary L. Hasek
    • , Gaspard Kerner
    • , Yuval Itan
    • , Osefame Ewaleifoh
    • , Franck Rapaport
    • , Thomas M. Carlile
    • , Madalina E. Carter-Timofte
    • , Dominik Paquet
    • , Kerry Dobbs
    • , Bastian Zimmer
    • , Daxing Gao
    • , Maria F. Rojas-Duran
    • , Dylan Kwart
    • , Vimel Rattina
    • , Michael J. Ciancanelli
    • , Jessica L. McAlpine
    • , Lazaro Lorenzo
    • , Soraya Boucherit
    • , Flore Rozenberg
    • , Rabih Halwani
    • , Benoit Henry
    • , Naima Amenzoui
    • , Zobaida Alsum
    • , Laura Marques
    • , Joseph A. Church
    • , Saleh Al-Muhsen
    • , Marc Tardieu
    • , Ahmed Aziz Bousfiha
    • , Søren R. Paludan
    • , Trine Hyrup Mogensen
    • , Lluis Quintana-Murci
    • , Marc Tessier-Lavigne
    • , Gregory A. Smith
    • , Luigi D. Notarangelo
    • , Lorenz Studer
    • , Wendy Gilbert
    • , Laurent Abel
    • , Jean-Laurent Casanova
    •  & Shen-Ying Zhang
  • Article |

    A combination of high-resolution imaging and modeling approaches facilitates the study of the mechanisms and clinical progression of non-alcoholic fatty liver disease in humans.

    • Fabián Segovia-Miranda
    • , Hernán Morales-Navarrete
    • , Michael Kücken
    • , Vincent Moser
    • , Sarah Seifert
    • , Urska Repnik
    • , Fabian Rost
    • , Mario Brosch
    • , Alexander Hendricks
    • , Sebastian Hinz
    • , Christoph Röcken
    • , Dieter Lütjohann
    • , Yannis Kalaidzidis
    • , Clemens Schafmayer
    • , Lutz Brusch
    • , Jochen Hampe
    •  & Marino Zerial
  • Article |

    Prenatal androgen exposure causes transgenerational increases in offspring susceptibility to polycystic ovary syndrome in adulthood.

    • Sanjiv Risal
    • , Yu Pei
    • , Haojiang Lu
    • , Maria Manti
    • , Romina Fornes
    • , Han-Pin Pui
    • , Zhiyi Zhao
    • , Julie Massart
    • , Claes Ohlsson
    • , Eva Lindgren
    • , Nicolas Crisosto
    • , Manuel Maliqueo
    • , Barbara Echiburú
    • , Amanda Ladrón de Guevara
    • , Teresa Sir-Petermann
    • , Henrik Larsson
    • , Mina A. Rosenqvist
    • , Carolyn E. Cesta
    • , Anna Benrick
    • , Qiaolin Deng
    •  & Elisabet Stener-Victorin
  • Article |

    Imaging of muscle fibrosis with a handheld device could potentially serve as a biomarker for disease progression and response to therapy in patients with Duchenne muscular dystrophy.

    • Adrian P. Regensburger
    • , Lina M. Fonteyne
    • , Jörg Jüngert
    • , Alexandra L. Wagner
    • , Teresa Gerhalter
    • , Armin M. Nagel
    • , Rafael Heiss
    • , Florian Flenkenthaler
    • , Matthias Qurashi
    • , Markus F. Neurath
    • , Nikolai Klymiuk
    • , Elisabeth Kemter
    • , Thomas Fröhlich
    • , Michael Uder
    • , Joachim Woelfle
    • , Wolfgang Rascher
    • , Regina Trollmann
    • , Eckhard Wolf
    • , Maximilian J. Waldner
    •  & Ferdinand Knieling
  • Article | | Open Access

    Analysis of fully clinically annotated and sequenced melanoma tumor samples collected before anti-PD1 treatment suggests that determinants of response differ on the basis of previous anti-CTLA4 therapy, and that tumor mutational burden may not be a strong predictor of response across melanoma subtypes.

    • David Liu
    • , Bastian Schilling
    • , Derek Liu
    • , Antje Sucker
    • , Elisabeth Livingstone
    • , Livnat Jerby-Arnon
    • , Lisa Zimmer
    • , Ralf Gutzmer
    • , Imke Satzger
    • , Carmen Loquai
    • , Stephan Grabbe
    • , Natalie Vokes
    • , Claire A. Margolis
    • , Jake Conway
    • , Meng Xiao He
    • , Haitham Elmarakeby
    • , Felix Dietlein
    • , Diana Miao
    • , Adam Tracy
    • , Helen Gogas
    • , Simone M. Goldinger
    • , Jochen Utikal
    • , Christian U. Blank
    • , Ricarda Rauschenberg
    • , Dagmar von Bubnoff
    • , Angela Krackhardt
    • , Benjamin Weide
    • , Sebastian Haferkamp
    • , Felix Kiecker
    • , Ben Izar
    • , Levi Garraway
    • , Aviv Regev
    • , Keith Flaherty
    • , Annette Paschen
    • , Eliezer M. Van Allen
    •  & Dirk Schadendorf
  • Article |

    Ultra-sensitive cell-free DNA (cfDNA) sequencing uncovers clonal hematopoiesis as a major source of somatic cfDNA variants in healthy individuals and patients with cancer, and underscores the importance of matched white blood cell DNA sequencing in liquid biopsy procedures.

    • Pedram Razavi
    • , Bob T. Li
    • , David N. Brown
    • , Byoungsok Jung
    • , Earl Hubbell
    • , Ronglai Shen
    • , Wassim Abida
    • , Krishna Juluru
    • , Ino De Bruijn
    • , Chenlu Hou
    • , Oliver Venn
    • , Raymond Lim
    • , Aseem Anand
    • , Tara Maddala
    • , Sante Gnerre
    • , Ravi Vijaya Satya
    • , Qinwen Liu
    • , Ling Shen
    • , Nicholas Eattock
    • , Jeanne Yue
    • , Alexander W. Blocker
    • , Mark Lee
    • , Amy Sehnert
    • , Hui Xu
    • , Megan P. Hall
    • , Angie Santiago-Zayas
    • , William F. Novotny
    • , James M. Isbell
    • , Valerie W. Rusch
    • , George Plitas
    • , Alexandra S. Heerdt
    • , Marc Ladanyi
    • , David M. Hyman
    • , David R. Jones
    • , Monica Morrow
    • , Gregory J. Riely
    • , Howard I. Scher
    • , Charles M. Rudin
    • , Mark E. Robson
    • , Luis A. Diaz Jr.
    • , David B. Solit
    • , Alexander M. Aravanis
    •  & Jorge S. Reis-Filho
  • Article |

    The first BCL-XL-degrading PROTAC achieves safer and more potent antitumor activity than dual BCL-XL and BCL-2 inhibitor navitoclax because of reduced dose-limiting platelet toxicity and high target specificity.

    • Sajid Khan
    • , Xuan Zhang
    • , Dongwen Lv
    • , Qi Zhang
    • , Yonghan He
    • , Peiyi Zhang
    • , Xingui Liu
    • , Dinesh Thummuri
    • , Yaxia Yuan
    • , Janet S. Wiegand
    • , Jing Pei
    • , Weizhou Zhang
    • , Abhisheak Sharma
    • , Christopher R. McCurdy
    • , Vinitha M. Kuruvilla
    • , Natalia Baran
    • , Adolfo A. Ferrando
    • , Yong-mi Kim
    • , Anna Rogojina
    • , Peter J. Houghton
    • , Guangcun Huang
    • , Robert Hromas
    • , Marina Konopleva
    • , Guangrong Zheng
    •  & Daohong Zhou

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