Externa länkar

Klinisk genetik i Sverige (sjukvård)

Klinisk genetik och genomik, Göteborg (sjukvård)
Klinisk genetik och genomik i Göteborg utför diagnostik och genetisk vägledning vid ärftliga sjukdomar och ger i första hand service till Västra Götalandsregionen.

Klinisk genetik, Linköping (sjukvård)
Klinisk genetik i Linköping utför laboratoriediagnostik av genetiskt betingade tillstånd och fosterdiagnostik och har den sydöstra sjukvårdsregionen som sitt upptagningsområde.

Klinisk genetik, Lund (sjukvård)
Genetiska klinikens i Lund hemsida med information för Södra sjukvårdsregionen.

Klinisk genetik, Stockholm (sjukvård)
Klinisk genetik vid Karolinska universitetssjukhuset i Solna är ett regionalt centrum för laboratoriediagnostik, genetisk vägledning, undervisning och forskning om genetiska sjukdomar.

Klinisk genetik, Umeå (sjukvård)
Klinisk genetik i Umeå är ett regionalt centrum för laboratoriediagnostik, genetisk vägledning, undervisning och forskning om genetiska sjukdomar.

Klinisk genetik, Uppsala (sjukvård)
Klinisk genetik vid Akademiska sjukhuset i Uppsala erbjuder expertkunskap för prevention, diagnostik och uppföljning av olika genetiska sjukdomar. Verksamheten är både klinisk och laborativ och servar i första hand Uppsala-Örebro regionen.

Klinisk och medicinsk genetik och genomik, forskning i Sverige

Genetik, Umeå (forskning)
Medicinsk och klinisk genetik, Institutionen för medicinsk biovetenskap, Umeå universitet.

Immunologi, genetik och patologi, Uppsala (forskning)
Institutionen för immunologi, genetik och patologi vid Medicinska fakulteten, Uppsala universitet.

Avdelningen för patologi och genetik, Göteborg (forskning)
Avdelningen för patologi och genetik, Institutionen för Biomedicin, Göteborgs universitet.

Klinisk genetik, Lund (forskning)
Avdelningen för klinisk genetik, Medicinska fakulteten, Lunds universitet.

Klinisk genetik, Stockholm (forskning)
Forskning inom genetik, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet.

Webbresurser för den genetiskt intresserade

Atlas of Genetics and Cytogenetics in Oncology and Haematology
The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a peer reviewed on-line journal and database in free access on internet devoted to genes, cytogenetics, and clinical entities in cancer, and cancer-prone diseases.

ClinGen
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

ClinVar
ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation.

DECIPHER
DECIPHER is used by the clinical community to share and compare phenotypic and genotypic data. The DECIPHER database contains data from over 34000 patients who have given consent for broad data-sharing.

EMQN
EMQN (The European Molecular Genetics Quality Network) is a not-for-profit organisation promoting quality in genetic testing by establishing, harmonising and disseminating best practice.

EuroGentest
EuroGentest is a project funded by the European Commission to harmonize the process of genetic testing, from sampling to counseling, across Europe. The ultimate goal is to ensure that all aspects of genetic testing are of high quality thereby providing accurate and reliable results for the benefit of the patients.

GeneReviews
GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Global Alliance for Genomics and Health (GA4GH)
The Global Alliance for Genomics and Health (GA4GH) is a policy-framing and technical standards-setting organization, seeking to enable responsible genomic data sharing within a human rights framework.

gnomAD
The Genome Aggregation Database (gnomAD), is a coalition of investigators seeking to aggregate and harmonize exome and genome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community.

Mitelman Database
The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations.

NCI PDQ Genetics
PDQ (Physician Data Query) is the US National Cancer Instititute’s (NCI) comprehensive cancer database. It contains summaries on a wide range of cancer topics including cancer genetics. PDQ genetics summaries provide evidence-based information about the genetic basis of certain cancers.

NHGRI
The US National Human Genome Research Institute (NHGRI) is the driving force for advancing genomics research at the National Institutes of Health (NIH), the largest biomedical research agency in the world.

OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression. OMIM is based on the peer-reviewed biomedical literature. OMIM is biocurated at the McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine.

OncoKB
OncoKB is a precision oncology knowledge base and contains information about the effects and treatment implications of specific cancer gene alterations. It is developed and maintained by the Knowledge Systems group at Memorial Sloan Kettering Cancer Center (MSK).

Orphanet
Orphanet is a database of information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet includes a Professional Encyclopaedia, which is expert-authored and peer-reviewed, a Patient Encyclopaedia and a Directory of expert Services. This Directory includes information on relevant clinics, clinical laboratories, research activities and patient organisations.

Ovanliga diagnoser, Socialstyrelsen
I Socialstyrelsens kunskapsdatabas om ovanliga diagnoser finns information om sjukdomar eller skador som finns hos högst 100 personer per miljon invånare och som leder till omfattande funktionsnedsättning.

PanelApp
Genomics England PanelApp is a crowdsourcing tool to allow gene panels to be shared, downloaded, viewed and evaluated by the scientific community.

UK Genomics Education Programme
The Genomics Education Programme (GEP) is the NHS’s method of ensuring its staff have the knowledge, skills and experience to ensure that the health service remains a world leader in genomic and precision medicine – particularly for NHS England Genomic Medicine Centres (GMCs).

Unique (rarechromo.org)
The mission of Unique is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness. Unique also develops a series of family-friendly information guides on specific rare chromosome disorders as well as practical guides on aspects of daily living.

Genetiska sällskap

ASHG
The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for human genetics specialists in the United States and worldwide. The Society’s members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses and others who have a special interest in the field of human genetics.

EBMG
The European Board of Medical Genetics (EBMG) is set up to serve the needs of patients who use genetic services in Europe through ensuing good standards of practice in three professional branches: Clinical laboratory geneticists, Genetic nurses and genetic counsellors, and Medical geneticists.

ESHG
The European Society of Human Genetics is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.

European Cytogeneticists Association
The objects of the European Cytogeneticists Association (E.C.A.) are: – The representation and the promotion of fundamental research and of applications in the field of cytogenetics. – The organisation, assessment, and quality control of cytogenetic services in Europe. – Research, education, training, information and inter-laboratory transfer in all fields which are of interest to or concern cytogenetics. – General representation of the professionals in cytogenetics, in particular by sitting within any body in which the interests of cytogeneticists could be concerned. – The study of any question and the defence of interests concerning cytogeneticists or cytogenetics in general.

International Federation of Human Genetics Societies
Founded in 1996, an international collaboration of professional human genetics societies, the IFHGS ensures that an International Congress of Human Genetics will take place every five years and that a credible forum for the sharing of ideas about human genetics is provided.

SFGV
Svenska föreningen för genetiska vägledare (SFGV) är en professionell organisation för att underlätta samarbetet och informationsutbytet mellan genetiska vägledare i Sverige.

Övriga länkar

CODEX – bioetik
CODEX har till syfte att ge tillgång till och kännedom om de etiska riktlinjer och lagar som reglerar och ställer etiska krav på forskningsprocessen. CODEX drivs av Vetenskapsrådet i samarbete med Centrum för forsknings- & bioetik vid Uppsala Universitet.

Genomic Medicine Sweden (GMS)
Genomic Medicine Sweden (GMS) består av sju regionala center för genomisk medicin (GMC) som i ett första steg kommer att införa bred gensekvensering inom sjukvården. Detta kommer avsevärt att förbättra diagnostik och individanpassade behandlingar av en rad sjukdomar. Varje GMC är ett nära samarbete mellan sjukvård och universitet på respektive ort.

SFMG Facebook Page
SFMG på Facebook

SFMG Twitter Page
SFMG på Twitter

Svenska Läkaresällskapet
Svenska Läkaresällskapet vill främja och utmana utvecklingen inom vården och stödjer god medicinsk forskning.

Sveriges läkarförbund
Sveriges läkarförbund är läkarnas fackliga och professionella organisation.

SWEDAC – Ackreditering av klinisk genetisk verksamhet
Krav- och vägledningsdokument för ackreditering av klinisk genetik från SWEDAC.

Sällsynta Diagnoser
”Sällsynta diagnoser” är ett riksförbund för sällsynta diagnosgrupper.