Literature DB >> 16250210

Challenges in developing therapies for rare diseases including pachyonychia congenita.

Roger L Kaspar1.   

Abstract

The ability to attract sufficient resources to effectively develop therapeutics for rare diseases is a daunting task. This review summarizes existing resources for rare diseases and discusses some of the challenges and strategies associated with developing therapies for small patient populations with an emphasis on pachyonychia congenita.

Entities:  

Mesh：

Year:  2005        PMID： 16250210     DOI： 10.1111/j.1087-0024.2005.10208.x

Source DB:  PubMed          Journal:  J Investig Dermatol Symp Proc        ISSN： 1087-0024


  12 in total

1.  Pachyonychia congenita tarda: A rare case report.

Authors:  Ganapathi Moger; M C Shashikanth; K T Chandrashekar; Sophia Kurein
Journal:  Contemp Clin Dent       Date:  2013-07

Review 2.  Silencing human genetic diseases with oligonucleotide-based therapies.

Authors:  Tamara Martínez; Natalia Wright; Marta López-Fraga; Ana Isabel Jiménez; Covadonga Pañeda
Journal:  Hum Genet       Date:  2013-03-14       Impact factor: 4.132

Review 3.  Pharmacovigilance of medicines for rare and ultrarare diseases.

Authors:  Marco Sardella; Glyn Belcher
Journal:  Ther Adv Drug Saf       Date:  2018-08-14

Review 4.  Novel molecular therapies for heritable skin disorders.

Authors:  Jouni Uitto; Angela M Christiano; W H Irwin McLean; John A McGrath
Journal:  J Invest Dermatol       Date:  2011-12-08       Impact factor: 8.551

Review 5.  [Syndroms associated with benign skin tumors].

Authors:  George-Sorin Tiplica; Klaus Fritz; Alexandra Irina Butacu; Loredana Ungureanu; Carmen Maria Sălăvăstru
Journal:  Hautarzt       Date:  2022-01-25       Impact factor: 0.751

6.  First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.

Authors:  Sancy A Leachman; Robyn P Hickerson; Mary E Schwartz; Emily E Bullough; Stephen L Hutcherson; Kenneth M Boucher; C David Hansen; Mark J Eliason; G Susan Srivatsa; Douglas J Kornbrust; Frances Jd Smith; Wh Irwin McLean; Leonard M Milstone; Roger L Kaspar
Journal:  Mol Ther       Date:  2009-11-24       Impact factor: 11.454

Review 7.  Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

Authors:  Sancy A Leachman; Robyn P Hickerson; Peter R Hull; Frances J D Smith; Leonard M Milstone; E Birgitte Lane; Sherri J Bale; Dennis R Roop; W H Irwin McLean; Roger L Kaspar
Journal:  J Dermatol Sci       Date:  2008-05-20       Impact factor: 4.563

8.  Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.

Authors:  Edwin H A Allen; Sarah D Atkinson; Haihui Liao; Jonathan E Moore; Deena M Leslie Pedrioli; Frances J D Smith; W H Irwin McLean; C B Tara Moore
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-01-17       Impact factor: 4.799

9.  Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.

Authors:  Haihui Liao; Alan D Irvine; Caroline J Macewen; Kathryn H Weed; Louise Porter; Laura D Corden; A Bethany Gibson; Jonathan E Moore; Frances J D Smith; W H Irwin McLean; C B Tara Moore
Journal:  PLoS One       Date:  2011-12-12       Impact factor: 3.240

10.  Gene Silencing in Skin After Deposition of Self-Delivery siRNA With a Motorized Microneedle Array Device.

Authors:  Robyn P Hickerson; Winston C Wey; David L Rimm; Tycho Speaker; Susie Suh; Manuel A Flores; Emilio Gonzalez-Gonzalez; Devin Leake; Christopher H Contag; Roger L Kaspar
Journal:  Mol Ther Nucleic Acids       Date:  2013-10-22       Impact factor: 10.183
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