Literature DB >> 29242613

Addressing challenges in the diagnosis and treatment of rare genetic diseases.

Kym M Boycott1,2, Diego Ardigó2,3.   

Abstract

The past 5 years have seen an unprecedented rate of discovery of genes that cause rare diseases and with it a commensurate increase in the number of diagnosable but nevertheless untreatable disorders. Here, we discuss the increasing opportunity for diagnosis and therapy of rare diseases and how to tackle the associated challenges.

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Year:  2017        PMID： 29242613     DOI： 10.1038/nrd.2017.246

Source DB:  PubMed          Journal:  Nat Rev Drug Discov        ISSN： 1474-1776            Impact factor:   84.694


  5 in total

1.  Orphan drug development: an economically viable strategy for biopharma R&D.

Authors:  Kiran N Meekings; Cory S M Williams; John E Arrowsmith
Journal:  Drug Discov Today       Date:  2012-02-17       Impact factor: 7.851

Review 2.  Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Authors:  Christopher P Austin; Christine M Cutillo; Lilian P L Lau; Anneliene H Jonker; Ana Rath; Daria Julkowska; David Thomson; Sharon F Terry; Béatrice de Montleau; Diego Ardigò; Virginie Hivert; Kym M Boycott; Gareth Baynam; Petra Kaufmann; Domenica Taruscio; Hanns Lochmüller; Makoto Suematsu; Carlo Incerti; Ruxandra Draghia-Akli; Irene Norstedt; Lu Wang; Hugh J S Dawkins
Journal:  Clin Transl Sci       Date:  2017-10-23       Impact factor: 4.689

Review 3.  Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Authors:  Hugh J S Dawkins; Ruxandra Draghia-Akli; Paul Lasko; Lilian P L Lau; Anneliene H Jonker; Christine M Cutillo; Ana Rath; Kym M Boycott; Gareth Baynam; Hanns Lochmüller; Petra Kaufmann; Yann Le Cam; Virginie Hivert; Christopher P Austin
Journal:  Clin Transl Sci       Date:  2017-10-23       Impact factor: 4.689

4.  International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Authors:  Kym M Boycott; Ana Rath; Jessica X Chong; Taila Hartley; Fowzan S Alkuraya; Gareth Baynam; Anthony J Brookes; Michael Brudno; Angel Carracedo; Johan T den Dunnen; Stephanie O M Dyke; Xavier Estivill; Jack Goldblatt; Catherine Gonthier; Stephen C Groft; Ivo Gut; Ada Hamosh; Philip Hieter; Sophie Höhn; Matthew E Hurles; Petra Kaufmann; Bartha M Knoppers; Jeffrey P Krischer; Milan Macek; Gert Matthijs; Annie Olry; Samantha Parker; Justin Paschall; Anthony A Philippakis; Heidi L Rehm; Peter N Robinson; Pak-Chung Sham; Rumen Stefanov; Domenica Taruscio; Divya Unni; Megan R Vanstone; Feng Zhang; Han Brunner; Michael J Bamshad; Hanns Lochmüller
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025

5.  Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen.

Authors:  Viviana Giannuzzi; Rosa Conte; Annalisa Landi; Serena Antonella Ottomano; Donato Bonifazi; Paola Baiardi; Fedele Bonifazi; Adriana Ceci
Journal:  Orphanet J Rare Dis       Date:  2017-04-03       Impact factor: 4.123
  5 in total
  9 in total

1.  Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome.

Authors:  Natalia I Dmitrieva; Avram D Walts; Dai Phuong Nguyen; Alex Grubb; Xue Zhang; Xujing Wang; Xianfeng Ping; Hui Jin; Zhen Yu; Zu-Xi Yu; Dan Yang; Robin Schwartzbeck; Clifton L Dalgard; Beth A Kozel; Mark D Levin; Russell H Knutsen; Delong Liu; Joshua D Milner; Diego B López; Michael P O'Connell; Chyi-Chia Richard Lee; Ian A Myles; Amy P Hsu; Alexandra F Freeman; Steven M Holland; Guibin Chen; Manfred Boehm
Journal:  J Clin Invest       Date:  2020-08-03       Impact factor: 14.808

2.  Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.

Authors:  Kiera Berger; Dalia Arafat; Shanmuganathan Chandrakasan; Scott B Snapper; Greg Gibson
Journal:  J Pers Med       Date:  2022-06-01

3.  The impact of rarity in NICE's health technology appraisals.

Authors:  Sophie Clarke; Michelle Ellis; Jack Brownrigg
Journal:  Orphanet J Rare Dis       Date:  2021-05-13       Impact factor: 4.123

Review 4.  Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Authors:  Arshia Angural; Akshi Spolia; Ankit Mahajan; Vijeshwar Verma; Ankush Sharma; Parvinder Kumar; Manoj Kumar Dhar; Kamal Kishore Pandita; Ekta Rai; Swarkar Sharma
Journal:  Front Genet       Date:  2020-04-30       Impact factor: 4.599

Review 5.  Development of vascular disease models to explore disease causation and pathomechanisms of rare vascular diseases.

Authors:  Rebecca L Harper; Elisa A Ferrante; Manfred Boehm
Journal:  Semin Immunopathol       Date:  2022-03-01       Impact factor: 11.759

6.  Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Authors:  Vicente A Yépez; Mirjana Gusic; Robert Kopajtich; Christian Mertes; Nicholas H Smith; Charlotte L Alston; Rui Ban; Skadi Beblo; Riccardo Berutti; Holger Blessing; Elżbieta Ciara; Felix Distelmaier; Peter Freisinger; Johannes Häberle; Susan J Hayflick; Maja Hempel; Yulia S Itkis; Yoshihito Kishita; Thomas Klopstock; Tatiana D Krylova; Costanza Lamperti; Dominic Lenz; Christine Makowski; Signe Mosegaard; Michaela F Müller; Gerard Muñoz-Pujol; Agnieszka Nadel; Akira Ohtake; Yasushi Okazaki; Elena Procopio; Thomas Schwarzmayr; Joél Smet; Christian Staufner; Sarah L Stenton; Tim M Strom; Caterina Terrile; Frederic Tort; Rudy Van Coster; Arnaud Vanlander; Matias Wagner; Manting Xu; Fang Fang; Daniele Ghezzi; Johannes A Mayr; Dorota Piekutowska-Abramczuk; Antonia Ribes; Agnès Rötig; Robert W Taylor; Saskia B Wortmann; Kei Murayama; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Journal:  Genome Med       Date:  2022-04-05       Impact factor: 11.117

7.  Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium.

Authors:  Mattias Rudebeck; Ciarán Scott; Nicholas P Rhodes; Christa van Kan; Birgitta Olsson; Mohammed Al-Sbou; Anthony K Hall; Nicolas Sireau; Lakshminarayan R Ranganath
Journal:  Orphanet J Rare Dis       Date:  2021-12-14       Impact factor: 4.123

8.  A comprehensive and universal approach for embryo testing in patients with different genetic disorders.

Authors:  Shuo Zhang; Caixia Lei; Junping Wu; Min Xiao; Jing Zhou; Saijuan Zhu; Jing Fu; Daru Lu; Xiaoxi Sun; Congjian Xu
Journal:  Clin Transl Med       Date:  2021-07

9.  Personalized medicine for rare neurogenetic disorders: can we make it happen?

Authors:  Agnies M van Eeghen; Hilgo Bruining; Nicole I Wolf; Arthur A Bergen; Riekelt H Houtkooper; Mieke M van Haelst; Clara D van Karnebeek
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24
  9 in total

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