Rare Diseases: Drug Discovery and Informatics Resource

Developing gene and cell therapies for rare diseases: an opportunity for synergy between academia and industry

(2017) F Mavilio   GENE THERAPY

Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges

(2017) Michael P Whyte   JOURNAL OF BONE AND MINERAL RESEARCH

Rare advances for rare diseases

(2017) The Lancet Neurology   LANCET NEUROLOGY

Challenges in orphan drug development and regulatory policy in China

(2017) Alice Cheng et al.   Orphanet Journal of Rare Diseases

Drug repositioning based on comprehensive similarity measures and Bi-Random walk algorithm

(2016) Huimin Luo et al.   BIOINFORMATICS

Migalastat: First Global Approval

(2016) Anthony Markham   DRUGS

Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65

(2016) A Georgiadis et al.   GENE THERAPY

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial

(2016) Jean Bennett et al.   LANCET

The management and treatment of children with Fabry disease: A United States-based perspective

(2016) Robert J. Hopkin et al.   MOLECULAR GENETICS AND METABOLISM

Gene therapy: Industrial strength

(2016) Eric Bender   NATURE

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering—A Cross-Sectional Analysis

(2016) Clemens Stockklausner et al.   ONCOLOGIST

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

(2016) Bouwien E. Smid et al.   Orphanet Journal of Rare Diseases

Scoring multiple features to predict drug disease associations using information fusion and aggregation

(2016) H. Moghadam et al.   SAR AND QSAR IN ENVIRONMENTAL RESEARCH

Overcoming Gene-Delivery Hurdles: Physiological Considerations for Nonviral Vectors

(2016) Andrew B. Hill et al.   TRENDS IN BIOTECHNOLOGY

Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease

(2016) Renuka Pudi Limgala et al.   PLoS One

DrugNet: Network-based drug–disease prioritization by integrating heterogeneous data

(2015) Víctor Martínez et al.   ARTIFICIAL INTELLIGENCE IN MEDICINE

The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease

(2015) Carla E.M. Hollak et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Plerixafor+G-CSF-mobilized CD34+ cells represent an optimal graft source for thalassemia gene therapy

(2015) G. Karponi et al.   BLOOD

NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection

(2015) Yaffa R. Rubinstein et al.   Contemporary Clinical Trials

Computational and Experimental Advances in Drug Repositioning for Accelerated Therapeutic Stratification

(2015) Khader Shameer et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

(2015) Orion J. Buske et al.   HUMAN MUTATION

The human Drug–Disease–Gene Network

(2015) Peng Gang Sun   INFORMATION SCIENCES

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness

(2015) Samuel G. Jacobson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Drug repositioning can accelerate discovery of pharmacological chaperones

(2015) Bruno Hay Mele et al.   Orphanet Journal of Rare Diseases

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)

(2014) Anna J. Roy et al.   ACTA NEUROLOGICA BELGICA

Multi-algorithm and multi-model based drug target prediction and web server

(2014) Ying-tao Liu et al.   ACTA PHARMACOLOGICA SINICA

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Anderson-Fabry Disease and Other Lysosomal Storage Disorders

(2014) Sherif F. Nagueh   CIRCULATION

Elosulfase alfa: First Global Approval

(2014) Mark Sanford et al.   DRUGS

Drug–Disease Association and Drug-Repositioning Predictions in Complex Diseases Using Causal Inference–Probabilistic Matrix Factorization

(2014) Jihong Yang et al.   Journal of Chemical Information and Modeling

Systems Biology Brings New Dimensions for Structure-Based Drug Design

(2014) Jianfeng Pei et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Pathway-based Bayesian inference of drug–disease interactions

(2014) Naruemon Pratanwanich et al.   Molecular BioSystems

Incorporation of protein flexibility and conformational energy penalties in docking screens to improve ligand discovery

(2014) Marcus Fischer et al.   Nature Chemistry

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

A Network-Based Classification Model for Deriving Novel Drug-Disease Associations and Assessing Their Molecular Actions

(2014) Min Oh et al.   PLoS One

ChemMapper: a versatile web server for exploring pharmacology and chemical structure association based on molecular 3D similarity method

(2013) Jiayu Gong et al.   BIOINFORMATICS

Drug repositioning for orphan genetic diseases through Conserved Anticoexpressed Gene Clusters (CAGCs)

(2013) Ivan Molineris et al.   BMC BIOINFORMATICS

Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia

(2013) Gabriele Nagel et al.   BMC Neurology

Toward better drug repositioning: prioritizing and integrating existing methods into efficient pipelines

(2013) Guangxu Jin et al.   DRUG DISCOVERY TODAY

Exploring the Ligand-Protein Networks in Traditional Chinese Medicine: Current Databases, Methods, and Applications

(2013) Mingzhu Zhao et al.   Evidence-based Complementary and Alternative Medicine

Drug-Domain Interaction Networks in Myocardial Infarction

(2013) Haiying Wang et al.   IEEE TRANSACTIONS ON NANOBIOSCIENCE

Drug repositioning framework by incorporating functional information

(2013) Zikai Wu et al.   IET Systems Biology

Network-based drug repositioning

(2013) Zikai Wu et al.   Molecular BioSystems

A pharmacological organization of G protein–coupled receptors

(2013) Henry Lin et al.   NATURE METHODS

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones

(2013) Marco Cammisa et al.   Orphanet Journal of Rare Diseases

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

(2013) Sunil Rodger et al.   Orphanet Journal of Rare Diseases

Orphanet et son réseau : où trouver une information validée sur les maladies rares

(2013) S. Maiella et al.   REVUE NEUROLOGIQUE

A CTD-Pfizer collaboration: manual curation of 88 000 scientific articles text mined for drug-disease and drug-phenotype interactions

(2013) A. P. Davis et al.   Database-The Journal of Biological Databases and Curation

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

(2012) G. J. Swaminathan et al.   HUMAN MOLECULAR GENETICS

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

Predicting drug targets based on protein domains

(2012) Yin-Ying Wang et al.   Molecular BioSystems

Large-scale prediction and testing of drug activity on side-effect targets

(2012) Eugen Lounkine et al.   NATURE

Use of genome-wide association studies for drug repositioning

(2012) Philippe Sanseau et al.   NATURE BIOTECHNOLOGY

Rare diseases and orphan drugs

(2012) Irena Melnikova   NATURE REVIEWS DRUG DISCOVERY

Prediction of Drug-Target Interactions and Drug Repositioning via Network-Based Inference

(2012) Feixiong Cheng et al.   PLoS Computational Biology

Modularity-based credible prediction of disease genes and detection of disease subtypes on the phenotype-gene heterogeneous network

(2011) Xin Yao et al.   BMC Systems Biology

Allogeneic cellular gene therapy in hemoglobinopathies—evaluation of hematopoietic SCT in sickle cell anemia

(2011) G Lucarelli et al.   BONE MARROW TRANSPLANTATION

Database identifies FDA-approved drugs with potential to be repurposed for treatment of orphan diseases

(2011) K. Xu et al.   BRIEFINGS IN BIOINFORMATICS

Drug repositioning for orphan diseases

(2011) D. Sardana et al.   BRIEFINGS IN BIOINFORMATICS

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)

(2011) James E. Hilbert et al.   Contemporary Clinical Trials

Gene therapies advance towards finish line

(2011) Asher Mullard   NATURE REVIEWS DRUG DISCOVERY

Disease Ontology: a backbone for disease semantic integration

(2011) L. M. Schriml et al.   NUCLEIC ACIDS RESEARCH

Mining Significant Substructure Pairs for Interpreting Polypharmacology in Drug-Target Network

(2011) Ichigaku Takigawa et al.   PLoS One

Exploring Off-Targets and Off-Systems for Adverse Drug Reactions via Chemical-Protein Interactome — Clozapine-Induced Agranulocytosis as a Case Study

(2011) Lun Yang et al.   PLoS Computational Biology

Rational approaches to targeted polypharmacology: creating and navigating protein–ligand interaction networks

(2010) James T Metz et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency

(2010) J Pang et al.   GENE THERAPY

Prediction and Evaluation of Protein Farnesyltransferase Inhibition by Commercial Drugs

(2010) Amanda J. DeGraw et al.   JOURNAL OF MEDICINAL CHEMISTRY

PharmMapper server: a web server for potential drug target identification using pharmacophore mapping approach

(2010) Xiaofeng Liu et al.   NUCLEIC ACIDS RESEARCH

Discovery of drug mode of action and drug repositioning from transcriptional responses

(2010) F. Iorio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unveiling the role of network and systems biology in drug discovery

(2010) Albert Pujol et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Modeling ERBB receptor-regulated G1/S transition to find novel targets for de novo trastuzumab resistance

(2009) Özgür Sahin et al.   BMC Systems Biology

Molecular networks for the study of TCM Pharmacology

(2009) J. Zhao et al.   BRIEFINGS IN BIOINFORMATICS

Systematic Evaluation of Drug–Disease Relationships to Identify Leads for Novel Drug Uses

(2009) A P Chiang et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases

(2009) Thoralf Töpel et al.   HUMAN MUTATION

Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice

(2009) Wai Han Yiu et al.   JOURNAL OF HEPATOLOGY

The topology of drug–target interaction networks: implicit dependence on drug properties and target families

(2009) Jordi Mestres et al.   Molecular BioSystems

Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration

(2009) Francesca Simonelli et al.   MOLECULAR THERAPY

Predicting new molecular targets for known drugs

(2009) Michael J. Keiser et al.   NATURE

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

(2009) Alessandro Aiuti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Modeling of the Bacterial Mechanism of Methicillin-Resistance by a Systems Biology Approach

(2009) Ida Autiero et al.   PLoS One

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kinetic modelling of NSAID action on COX-1: Focus on in vitro/in vivo aspects and drug combinations

(2008) Alexey Goltsov et al.   EUROPEAN JOURNAL OF PHARMACEUTICAL SCIENCES

Network-based global inference of human disease genes

(2008) Xuebing Wu et al.   Molecular Systems Biology

Drug Target Identification Using Side-Effect Similarity

(2008) M. Campillos et al.   SCIENCE