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Catalogue of Activities Work Product – Mendelian Genetic Disorders Sheet Searching by Keyword: • Searches for matches in Subtopic, Description and Searchable Terms Filtering Options: Category (By spreadsheet) • Mendelian Genetic Disorders • Cancer Type (Product Type) • Consortium/Collaborative Network • Database • Tool • Tool – nomenclature Topic • • • • • • Rare Disease Genomics Genetic Variant Genotype Phenotype Phenotype Ontology Geographic Region: • Africa • Asia • Australia • Europe • North America • South America • International Name 1000 Genomes Project Type Database Topic Genomics Subtopic Reference Genome Geographic Region Description Recent improvements in sequencing technology ("next-gen" sequencing platforms) have sharply reduced the cost of sequencing. The 1000 Genomes Project is the first project to sequence the genomes of a large number of people, to provide a comprehensive resource on human genetic variation. International As with other major human genome reference projects, data from the 1000 Genomes Project will be made available quickly to the worldwide scientific community through freely accessible public databases... The goal of the 1000 Genomes Project is to find most genetic variants that have frequencies of at least 1% in the populations studied... Website Contact http://www. 1000genom es.org/ There is a considerable need and desire for networks of diagnostic laboratories/disease consortia to be able to check each others databases for the presence of mutations they observe in their own patients. But this is countered by the understandable reluctance and impracticality of sharing the content of each group's database with other labs, or indeed with the wider world. Cafe Variome Database, Tool Genetic Variant, Phenotype Missing Given the above, a way forward has been devised based upon enabling the 'open discovery' of data (rather than data 'sharing') between networks of diagnostic laboratories or disease consortia that know/trust each other and share an interest in certain causative genes or diseases. http://www. cafevariom e.org/ Tony Brookes: [email protected] http://care4 rare.ca/ Taila Hartley: [email protected] To that end, the Cafe Variome platform has been developed. We are reaching out to groups and projects that could benefit from such a system, allowing them and their fellow labs to securely share data between each other. CARE for RARE (FORGE) Consortiu m/Collab orative Network Rare Disease North America CARE for RARE is a collaborative team of clinicians, informaticians, scientists and researchers building upon the infrastructure and discoveries of the FORGE Canada (Finding of Rare Disease Genes) project which identified more than 67 novel disease genes using whole-exome sequencing (April 2011-March 2013). The goal of CARE for RARE is to improve clinical care for patients and families affected by rare diseases by expanding and improving diagnosis and treatment. Centers for Mendelian Genomics (CMGs) Consortiu m/Collab orative Network ClinGen Consortiu m/Collab orative Network Clinical Sequencing Exploratory Research (CSER) Consortium ClinVar Consortiu m/Collab orative Network Database The Centers for Mendelian Genomics (CMG) are co-funded by NHGRI and the National Heart, Lung, and Blood Institute of National Institutes of Health (NHLBI). The CMG aim to make major contributions to the discovery of the genetic basis of most or all Mendelian disorders in two main ways. The first is to use genome-wide sequencing and other genomic approaches to discover the genomic defects underlying as many Mendelian disorders as possible, spanning the various Mendelian inheritance patterns, during the funding period. The second is to accelerate the discovery by disseminating the obtained knowledge and effective approaches, reaching out to individual investigators, and coordinating with other rare disease programs worldwide. Genomics Genomics Genetic Variant, Phenotype http://www. mendelian. org/ Program contact - Lu Wang: [email protected] http://www. genome.go v/27546192 CMG contact - Mike Bamshad: [email protected] gton.edu North America ClinGen is a National Institute of Health (NIH)-funded collaborative program dedicated to harnessing both research data and the data from the hundreds of thousands of clinical genetics tests being performed each year, as well as supporting expert curation to determine the relevance of genes and variants to human health and disease. http://www. clinicalgen ome.org Heidi Rehm: [email protected] g North America The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) have initiated a Clinical Sequencing Exploratory Research (CSER) program to support multidimensional research in this area. CSER is a national consortium of projects that bring together clinicians, scientists, laboratories, bioinformaticians, economists, legal scholars, ethicists, and patients working together to develop and share innovations and best practices in the integration of genomic sequencing into clinical care. https://cserconsortium. org/ Lucia Hindorff: [email protected] v International ClinVar is designed to provide a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. By so doing, ClinVar facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar collects reports of variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible. https://ww w.ncbi.nlm. nih.gov/clin var/ Melissa Landrum: [email protected] .gov Database of Genomic Structural Variation (dbVar) DatabasE of genomiC varIants and Phenotype in Humans Using Ensembl Resources (DECIPHER) Database of Genotypes and Phenotypes (dbGaP) Database of Short Genetic Variations (dbSNP) Deciphering Developmental Disorders (DDD) Database of genomic structural variation. Database Database, Tool Database Genomics Missing Genetic Variant, Phenotype International Genomics Missing The overall aims of DECIPHER are to: 1. Aid in the interpretation of plausibly pathogenic variants from genome- wide analyses by placing them in the context of known pathogenic variants, other plausibly pathogenic variants and population variation 2. Annotate plausibly pathogenic variants with their likely functional impact using Ensembl tools to compare sequence and structural variants with the latest functional annotation of the current human reference genome e.g define which genes are involved in a specific copy number variant (microdeletion / microduplication) or for sequence variants, whether they are positioned within a gene or regulatory element. 3. Facilitate research into the study of genes that affect human health and development to improve diagnosis, management and therapy of rare diseases. The database of Genotypes and Phenotypes (dbGaP) was developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype. Short genetic variations. Database Consortiu m/Collab orative Network Genomics Missing Missing Developm ental Disorders Europe The Deciphering Developmental Disorders (DDD) study aims to find out if using new genetic technologies can help doctors understand why patients get developmental disorders. To do this we have brought together doctors in the 24 Regional Genetics Services, throughout the UK and Republic of Ireland, with scientists at the Wellcome Trust Sanger Institute, a charitably funded research institute which played a world-leading role in sequencing (reading) the human genome. The DDD study involves experts in clinical, molecular and statistical genetics, as well as ethics and social science. Over the next few years, we are aiming to collect DNA and clinical information from 12,000 undiagnosed children in the UK with developmental disorders and their parents. http://www. ncbi.nlm.ni h.gov/dbvar / http://decip her.sanger. ac.uk/ Helen Firth: [email protected] Matt Hurles: [email protected] http://www. ncbi.nlm.ni h.gov/gap http://www. ncbi.nlm.ni h.gov/SNP/ http://www. ddduk.org/ Helen Firth: [email protected] Matt Hurles: [email protected] Elements of Morphology EuRenomics Gen2Phen Gene Matcher Tool – nomenclat ure Phenotype Ontology Consortiu m/Collab orative Network Rare Disease Database Genetic Variant, Phenotype Database, Tool http://eleme ntsofmorph ology.nih.g ov/ John Carey: [email protected]. edu http://www. eurenomics .eu/ Franz Schaefer: [email protected] ni-heidelberg.de International The GEN2PHEN project aims to unify human and model organism genetic variation databases towards increasingly holistic views into Genotype-To-Phenotype (G2P) data, and to link this system into other biomedical knowledge sources via genome browser functionality. http://www. gen2phen.o rg/ Tony Brookes: [email protected] International GeneMatcher is a freely accessible web site designed to enable connections between clinicians and researchers from around the world who share an interest in the same gene or genes. The principle goal for making GeneMatcher available is to help solve “unsolved” exomes. This may be done with cases from research or clinical sources. No identifiable data are collected. GeneMatcher was developed with support from the Baylor-Hopkins Center for Mendelian Genomics as part of the Centers for Mendelian Genomics network. https://gene matcher.org / Ada Hamosh: [email protected] International Kidney Disease An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise... Europe Our Consortium is devoted to improving the lives of patients affected by rare kidney diseases. In line with the objectives of the International Rare Disease Research Consortium (IRDiRC), we aim to develop novel tools that will allow to make more accurate diagnoses, predict the disease course and the efficacy of available treatments, and help developing new and better therapies for rare kidney diseases. This project is receiving funding as part of the European Community’s commitment to the IRDiRC initiative. In this quest we are joining forces with our FP7 partner project Neuromics (for neuromuscular disorders) and the RD-CONNECT infrastructure platform. Genetic Variant, Phenotype Genomics Management Application (GEM.app) Database, Tool Genetic Variant, Phenotype International Genomes Management Application (GEM.app) is a software tool to annotate, manage, visualize, and analyze large genomic datasets (https://genomics.med.miami.edu/). Currently, ~400 registered users from 36 countries are building dynamic communities centered around phenotypic interests, with full control remaining with the PI of a study. GEM.app currently contains >5000 whole exomes and genomes from 90 different phenotypes. The focus of GEM.app is on user-friendly analysis for nonbioinformaticians to make next-generation sequencing data directly accessible. Yet, GEM.app provides powerful and flexible filter options, including single family filtering, across family/phenotype queries, nested filtering, and evaluation of segregation in families. GEM.app has been used to successfully identify >60 novel disease genes in the past 24 months. https://geno mics.med. miami.edu/ Stephan Zuchner: [email protected]. edu http://www. genomicme dicineallian ce.org/inde x.php/2013 -02-19-1451-27/aims George P. Patrinos: [email protected] The Genomic Medicine Alliance aims to create collaboration ties between academics, researchers, regulators, and the general public interested in all aspects of genomics and personalized medicine. The Alliance provides the means to establish networks and to encourage collaborative work towards advancing the Genomic Medicine discipline, focusing in particular on translating results from academic research into clinical practice. Genomic Medicine Alliance Consortiu m/Collab orative Network Missing International In particular, the Genomic Medicine Alliance aims to: • Encourage and catalyze multidisciplinary collaborative research between partner institutions and scientists, particularly from emerging countries. • Liaise among research organizations, clinical entities and regulatory agencies in areas related to genomic medicine. • Facilitate the introduction of pharmacogenomics and advanced omics technologies into the mainstream clinical practice. • Produce and propose guidelines and recommendations in all areas pertaining to genomic medicine, always in close collaboration with other scientific academic entities, agencies and regulatory bodies. • Develop, independently or in close collaboration with partner institutions, and coordinate educational activities in the area of genomic medicine. Global Genomic Medicine Collaborative (G2MC) Consortiu m/Collab orative Network The Global Genomic Medicine Collaborative (G2MC) is an organization of global leaders in the implementation of genomic medicine in clinical care, arising from an international symposium in Washington, D.C. in January, 2014 convened by the National Human Genome Research Institute and hosted by the US Institute of Medicine. It is an international genomic medicine community formed to unite and catalyze the implementation of genomic tools and knowledge into health care delivery globally. Specifically, it is intended to: Genomics International • Serve as nexus, clearinghouse, and knowledge base for genomic medicine activities globally; Under Constructio n Adam Berger: http://www. hgvs.org Rania Horaitis: [email protected] http://www. humanphenotypeontology.or g/ Peter Robinson: peter.robinson@charit e.de [email protected] • Develop opportunities for global genomic medicine demonstration projects (implementation and outcomes research); • Capture and disseminate best practices for genomic medicine (in bioinformatics, education, evidence, pharmacogenomics, policy) across the global genomic medicine community; and • Develop a financial model for sustained efforts. Human Genome Variation Society (HGVS) Human Phenotype Ontology (HPO) Consortiu m/Collab orative Network Tool – nomenclat ure Genomics International The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. We will promote collection, documentation and free distribution of genomic variation information and associated clinical variations and endeavor to foster the development of the necessary methodology and informatics... To enhance human health through identification and characterization of changes in the genome that lead to susceptibility to illness. To this end, to collate the genomic information necessary for molecular diagnosis, research on basic mechanisms and design of treatments of human ailments. ...The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Terms in the HPO describes a phenotypic abnormality, such as atrial septal defect. Phenotype Ontology International The HPO was initially developed using information from Online Mendelian Inheritance in Man (OMIM) and is now using information from OMIM and the medical literature and contains approximately 10,000 terms. Over 50,000 annotations to hereditary diseases are available for download or can be browsed using the PhenExplorer. The Human Variome Project is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly. Human Variome Project Consortiu m/Collab orative Network Missing International In doing so, the Human Variome Project takes on four roles: 1) establishing and maintaining the standards, systems and infrastructure necessary for the worldwide collection, curation, interpretation and sharing of information across the genome; 2) advocating and promoting ethical behaviour in the field of medical genetics and genomics; 3) sharing knowledge about our genome and its function in determining health; and 4) assisting individuals and nations build their capacity to address the genetic aspects of individual and global health. http://www. humanvario meproject.o rg/ Peter Robinson (main): peter.robinson@charit e.de International Consortium for Human Phenotype Terminologies (ICHPT) Tool – nomenclat ure Phenotype Ontology International Website forthcoming (a common set of terms are being mapped across all ontologies) http://www. ichpt.org/ Ségolène Aymé: segolene.ayme@inser m.fr Ana Rath: [email protected] Ada Hamosh: [email protected] International Rare Disease Research Consortium (IRDiRC) Consortiu m/Collab orative Network The International Rare Disease Research Consortium (IRDiRC) teams up researchers and organizations investing in rare diseases research in order to achieve two main objectives by the year 2020, namely to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases. Rare Disease International A number of grand challenges are being addressed through collaborative actions to reach these 2020 goals such as: • establishing and providing access to harmonized data and samples, • performing the molecular and clinical characterization of rare diseases, • boosting translational, preclinical and clinical research, • and streamlining ethical and regulatory procedures. http://www. irdirc.org/ Segolene Ayme: segolene.ayme@inser m.fr Barbara Cagniard: barbara.cagniard@irdi rc.org LOVD stands for Leiden Open (source) Variation Database. Leiden Open Variation Database (LOVD) Database Genetic Variant, Phenotype International Purpose: provide a flexible, freely available tool for gene variant and phenotype collection, display and curation. On the Leiden server LOVD offers free hosting and support of LOVDpowered gene variant databases. LOVD is open source, released under the GPL license, and is actively being improved. Several version of the software are available. LOVD 3.0 is actively developed; currently we have releases every month. http:// www.LOV D.nl The Winter-Baraitser Dysmorphology Database: The Winter-Baraitser Dysmorphology Database (WBDD) currently contains information on over 4700 dysmorphic, multiple congenital anomaly and mental retardation syndromes. It includes single gene disorders, sporadic conditions, and those caused by environmental agents... London Dysmorphology Database Phenotype Ontology Missing The Baraitser-Winter Neurogenetics Database: The Baraitser-Winter Neurogenetics Database (BWND) currently contains information on over 4250 syndromes involving the central and peripheral nervous system seen in adults and children... The Photo Library: Now integrated into WBDD and BWND, the Photo Library is a superb collection of over 20000 photographs that show the main dysmorphic features of the syndrome and other relevant images, such as skeletal radiographs, hair microscopy, etc... The London Ophthalmic Genetics Database (GENEEYE): The latest addition to the LMD series, GENEEYE is a comprehensive database of over 2900 genetic ophthalmic conditions... http://www. lmdatabase s.com/abou t_lmd.html Johann Den Dunnen: LOVD@JohanDenDu nnen.nl MedGen Neuromics NHLBI Exome Sequencing Project (ESP) and Exome Variant Server Tool – nomenclat ure Consortiu m/Collab orative Network Tool Phenotype Ontology Rare Disease Genetic Variant North America Neurogen etic Disorders Exome Variant Europe MedGen is NCBI’s portal to information about human disorders and phenotypes having a genetic component. The purpose of MedGen is to harmonize phenotype terminologies, support computational access to phenotype data, and to add value through a variety of data elements. MedGen aggregates terms from multiple vocabulary sources into a specific concept and assigns a unique, stable identifier (Concept Unique Identifier; CUI) to that concept – where possible, the same identifier used by UMLS. MedGen provides multiple types of descriptors for concepts including names, synonyms, acronyms, semantic type, abbreviations, sources of descriptors, attribution and identifiers (e.g., from OMIM, HPO and Orphanet), textual definitions from multiple sources, hierarchical relationships between terms, cytogenetic locations, causative genes and variants, mode of inheritance, tests in the NIH Genetic Testing Registry (GTR), molecular resources, professional guidelines, reviews (e.g. from GeneReviews and Medical Genetics Summaries), consumer resources, molecular resources, clinical trials, and Web links to other related NCBI and non-NCBI resources. MedGen serves as the terminology resource for ClinVar and GTR. Neuromics is a research consortium which brings together the leading research groups in Europe, five highly innovative SMEs as well as overseas experts in the relevant fields. Using the most sophisticated -omics technologies, this consortium will revolutionize diagnostics and develop new treatments for ten major neurodegenerative and neuromuscular diseases affecting the cortex, basal ganglia, cerebellum, spinal cord, peripheral nerves, neuromuscular junction, and muscle... The Neuromics research efforts will interact closely with a similar project in the field of rare kidney diseases – EURenOmics, sharing skills, experiences and infrastructure where possible. Both will work closely with RD-Connect, a recently funded project which will create an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. North America The goal of the NHLBI GO Exome Sequencing Project (ESP) is to discover novel genes and mechanisms contributing to heart, lung and blood disorders by pioneering the application of next-generation sequencing of the protein coding regions of the human genome across diverse, richly-phenotyped populations and to share these datasets and findings with the scientific community to extend and enrich the diagnosis, management and treatment of heart, lung and blood disorders. http://www. ncbi.nlm.ni h.gov/medg en Wendy Rubinstein: http://rdneuromics. eu/ Olaf Riess: [email protected] http://evs.g s.washingto n.edu/EVS/ [email protected] h.gov Debbie Nickerson: [email protected] n.edu Online Mendelian Inheritance in Man (OMIM) Database Genotype, Phenotype International OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000* genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. http://www. omim.org/ Ada Hamosh: [email protected] http://www. orpha.net/c onsor/cgibin/index.p hp Ana Rath: [email protected] *As of August 2014, OMIM has over 14,700 genes. Orphanet Consortiu m/Collab orative Network Rare Disease International Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.Orphanet offers a range of freely accessible services: • A multi-lingual inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications. • An encyclopaedia of rare diseases in English, progressively translated into french, German, Spanish, Portuguese, Italian, Dutch, Poland, Greek, and Finnish. • An inventory of orphan drugs at all stages of development. • A directory of expert resources, providing information on expert clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in the field of rare diseases, in each of the 37 countries in Orphanet’s consortium. • An assistance-to-diagnosis tool allowing users to search by signs and symptoms. • An encyclopaedia of recommendations and guidelines for emergency medical care and anaesthesia. • A fortnightly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French. • A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website. Orphanet Rare Disease Ontology (ORDO) Tool – nomenclat ure Phenotype Ontology, Rare Disease International The Orphanet Rare Disease ontology (ORDO) is jointly developed by Orphanet and the EBI to provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource for the computational analysis of rare diseases. It derived from the Orphanet database (www.orpha.net ) , a multilingual database dedicated to rare diseases populated from literature and validated by international experts. It integrates a nosology (classification of rare diseases), relationships (gene-disease relations, epiemological data) and connections with other terminologies (MeSH, SNOMED CT, UMLS, MedDRA),databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Geantlas) or classifications (ICD10). http://www. orphadata.o rg/cgibin/inc/ord o_orphanet. inc.php Ana Rath (main): [email protected] Annie Olry: [email protected] The PharmGKB is a pharmacogenomics knowledge resource that encompasses clinical information including dosing guidelines and drug labels, potentially clinically actionable gene-drug associations and genotype-phenotype relationships. PharmGKB collects, curates and disseminates knowledge about the impact of human genetic variation on drug responses through the following activities: Pharmacogeneti cs Knowledge Base (PharmGKB) Database Genomics Pharmaco genetics North America • Annotate genetic variants and gene-drug-disease relationships via literature reviews • Summarize important pharmacogenomic genes, associations between genetic variants and drugs, and drug pathways • Curate FDA drug labels containing pharmacogenomic information • Enable consortia examining important questions in pharmacogenomics • Curate and participate in writing pharmacogenomic-based drug dosing guidelines • Contribute to clinical implementation projects for pharmacogenomics through collaborations • Publish pharmacogenomic-based drug dosing guidelines, very important pharmacogene summaries and drug-centered pathways • Display all information on the website and provide comprehensive downloads https://ww w.pharmgk b.org/ Teri E. Klein: [email protected] u PhenoDB Database, Tool Genetic Variant, Phenotype, Rare Disease International To interpret whole exome/genome sequence data for clinical and research purposes, comprehensive phenotypic information, knowledge of pedigree structure, and results of previous clinical testing are essential. With these requirements in mind and to meet the needs of the Centers for Mendelian Genomics project, we have developed PhenoDB (http://phenodb.net), a secure, Web-based portal for entry, storage, and analysis of phenotypic and other clinical information. The phenotypic features are organized hierarchically according to the major headings and subheadings of the Online Mendelian Inheritance in Man (OMIM®) clinical synopses, with further subdivisions according to structure and function. Every string allows for a free-text entry. All of the approximately 2,900 features use the preferred term from Elements of Morphology and are fully searchable and mapped to the Human Phenotype Ontology and Elements of Morphology. The PhenoDB allows for ascertainment of relevant information from a case in a family or cohort, which is then searchable by family, OMIM number, phenotypic feature, mode of inheritance, genes screened, and so on. The database can also be used to format phenotypic data for submission to dbGaP for appropriately consented individuals. PhenoDB was built using Django, an open source Web development tool, and is freely available through the Johns Hopkins McKusickNathans Institute of Genetic Medicine. (Information on PhenoDB copied from: http://www.ncbi.nlm.nih.gov/pubmed/23378291) http://phen odb.net Ada Hamosh: [email protected] PhenomeCentral is a repository for secure data sharing targeted to clinicians and scientists working in the rare disorder community. PhenomeCentral encourages global scientific collaboration while respecting the privacy of patients profiled in this centralized database. PhenomeCentral Database, Tool Genetic Variant, Phenotype International Why is it useful? • PhenomeCentral enables the discovery of multiple individuals affected by the same unnamed disorder. Undiagnosed disorders may be present in only a handful of individuals seen at different hospitals and sequenced by different centers. The PhenomeCentral collaboration model enables effective and secure data-sharing techniques that allow clinicians and scientists to learn about the existence of cases similar to theirs, which eventually may help improve the understanding of disorder manifestations and confirm the underlying cause. • The matching algorithms are sensitive to atypical phenotypic manifestations of disorders. The semantic model which is the basis of our matching process helps reveal subtle similarities between disorder manifestations and may provide justification for reconsidering diagnoses that were initially discarded due to atypical phenotypes. https://phen omecentral. org/ Mike Brudno: [email protected] u support@phenomecent ral.org PhenoTips Tool – nomenclat ure PhenoTips is an open source software tool for collecting and analyzing phenotypic information for patients with genetic disorders. The user interface closely mirrors clinician workflows so as to facilitate the recording of observations made during the patient encounter. This easy-to-use front-end, compatible with any device that runs a Web browser, is coupled with with a standardized database back-end where phenotypic information is represented using the Human Phenotype Ontology (HPO). Phenotype Ontology http://phen otips.org/ Mike Brudno: [email protected] u International SNOMED CT is considered to be the most comprehensive multilingual health terminology in the world. From abscess to zygote, SNOMED CT includes more than 311,000 unique concepts. The concepts are organized in hierarchies, from the general to the specific. This allows very detailed ("granular") clinical data to be recorded and later accessed or aggregated at a more general level. "Concept descriptions" are the terms or names assigned to a SNOMED CT concept. There are almost 800,000 descriptions in SNOMED CT, including synonyms that can be used to refer to a concept. http://www. ihtsdo.org/s nomed-ct/ Don Sweete: [email protected] International TREAT-NMD is a network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch in January 2007 the network's focus has been on the development of tools that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide. http://www. treatnmd.eu/ Volker Straub: volker.straub@newcas tle.ac.uk North America Collected data include demographics, medical history, family history, physical and laboratory measurements, physical findings, and free-form notes. In addition to data collection, PhenoTips automatically analyzes a wide range of measurements and plots live the corresponding growth curves. It also supports accurate diagnosis based on the entered data, and can suggest additional clinical investigations that can improve the diagnosis. SNOMED CT Treat-NMD Neuromuscular Network Tool – nomenclat ure Consortiu m/Collab orative Network Phenotype Ontology Rare Disease Neuromus cular Disease Undiagnosed Diseases Network (UDN) Consortiu m/Collab orative Network Rare Disease, Genomics North America ... Undiagnosed Diseases Network (UDN) is being established across the country to diagnose both rare and new diseases. Furthermore, through the support of mechanistic studies, the Network hopes to aid in management strategies for the patients. This program will advance laboratory and clinical research, building upon the experience and expertise of the NIH Intramural Undiagnosed Diseases Program (UDP) and similar programs, to enhance coordination and collaboration among laboratory and clinical researchers across multiple centers. The Network will benefit from having the capacity to share data and approaches widely throughout the scientific community. http://com monfund.ni h.gov/Disea ses/index Anastasia Wise: [email protected] v