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Literature DB >> 28178258

Industrializing rare disease therapy discovery and development.

Sean Ekins¹.

Abstract

Entities: Disease Gene Species

Mesh：

Year: 2017 PMID： 28178258 PMCID： PMC5320585 DOI： 10.1038/nbt.3787

Source DB: PubMed Journal: Nat Biotechnol ISSN： 1087-0156 Impact factor: 54.908

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8 in total

1. Rare diseases and orphan drugs.

Authors: Irena Melnikova
Journal: Nat Rev Drug Discov Date: 2012-03-30 Impact factor: 84.694

Review 2. The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Authors: Tony Shen; Ariel Lee; Carol Shen; C Jimmy Lin
Journal: Genet Res (Camb) Date: 2015-09-14 Impact factor: 1.588

Review 3. Giant axonal neuropathy.

Authors: Y Yang; E Allen; J Ding; W Wang
Journal: Cell Mol Life Sci Date: 2007-03 Impact factor: 9.261

4. Efficacy and safety of adeno-associated viral vectors based on serotype 8 and 9 vs. lentiviral vectors for hemophilia B gene therapy.

Authors: T Vandendriessche; L Thorrez; A Acosta-Sanchez; I Petrus; L Wang; L Ma; L DE Waele; Y Iwasaki; V Gillijns; J M Wilson; D Collen; M K L Chuah
Journal: J Thromb Haemost Date: 2006-09-26 Impact factor: 5.824

5. The discovery of medicines for rare diseases.

Authors: David C Swinney; Shuangluo Xia
Journal: Future Med Chem Date: 2014-06 Impact factor: 3.808

6. Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy.

Authors: Silke Mussche; Bart Devreese; Sahana Nagabhushan Kalburgi; Lavanya Bachaboina; Jonathan C Fox; Hung-Jui Shih; Rudy Van Coster; R Jude Samulski; Steven J Gray
Journal: Hum Gene Ther Date: 2013-02 Impact factor: 5.695

7. Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery.

Authors: Jill Wood; Lori Sames; Allison Moore; Sean Ekins
Journal: Drug Discov Today Date: 2013-08-19 Impact factor: 7.851

8. Mucopolysaccharidosis IIIB confers enhanced neonatal intracranial transduction by AAV8 but not by 5, 9 or rh10.

Authors: J A Gilkes; M D Bloom; C D Heldermon
Journal: Gene Ther Date: 2015-12-16 Impact factor: 5.250

8 in total

12 in total

1. Doing it All - How Families are Reshaping Rare Disease Research.

Authors: Sean Ekins; Ethan O Perlstein
Journal: Pharm Res Date: 2018-08-16 Impact factor: 4.200

Review 2. RNA delivery biomaterials for the treatment of genetic and rare diseases.

Authors: Weiyu Zhao; Xucheng Hou; Olivia G Vick; Yizhou Dong
Journal: Biomaterials Date: 2019-06-20 Impact factor: 12.479

3. Exploiting machine learning for end-to-end drug discovery and development.

Authors: Sean Ekins; Ana C Puhl; Kimberley M Zorn; Thomas R Lane; Daniel P Russo; Jennifer J Klein; Anthony J Hickey; Alex M Clark
Journal: Nat Mater Date: 2019-04-18 Impact factor: 43.841

Review 4. Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities.

Authors: Navid Hasani; Faraz Farhadi; Michael A Morris; Moozhan Nikpanah; Arman Rhamim; Yanji Xu; Anne Pariser; Michael T Collins; Ronald M Summers; Elizabeth Jones; Eliot Siegel; Babak Saboury
Journal: PET Clin Date: 2022-01

Industrializing rare disease therapy discovery and development.

1. Rare diseases and orphan drugs.

Review 2. The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Review 3. Giant axonal neuropathy.

4. Efficacy and safety of adeno-associated viral vectors based on serotype 8 and 9 vs. lentiviral vectors for hemophilia B gene therapy.

5. The discovery of medicines for rare diseases.

6. Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy.

7. Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery.

8. Mucopolysaccharidosis IIIB confers enhanced neonatal intracranial transduction by AAV8 but not by 5, 9 or rh10.

1. Doing it All - How Families are Reshaping Rare Disease Research.

Review 2. RNA delivery biomaterials for the treatment of genetic and rare diseases.

3. Exploiting machine learning for end-to-end drug discovery and development.

Review 4. Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities.

Review 5. Knowledge-based approaches to drug discovery for rare diseases.

Review 6. Left to themselves: Time to target chronic pain in childhood rare diseases.

Review 7. Zebrafish Models of Rare Hereditary Pediatric Diseases.

Review 8. Dental-craniofacial manifestation and treatment of rare diseases.

9. eRAM: encyclopedia of rare disease annotations for precision medicine.

Review 10. How Surrogate and Chemical Genetics in Model Organisms Can Suggest Therapies for Human Genetic Diseases.