Externa länkar

Klinisk genetik i Sverige (sjukvård)

Klinisk genetik, Göteborg (sjukvård)
Klinisk genetik 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, 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.

Klinisk genetik, Göteborg (forskning)
Enheten för Klinisk 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.

CyDAS
CyDAS means ”Cytogenetic Data Analysis System”. It is a software package which can deal with karyotypes written in the ISCN 1995. It can deduce meta-information contained in such karyotypes, like gains and losses of chromosomal material. Ideograms of aberrant chromosomes may be drawn.

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 an EU-funded Network of Excellence (NoE) with 5 Units looking at all aspects of genetic testing – Quality Management, Information Databases, Public Health, New Technologies and Education. Through a series of initiatives EuroGentest encourages the harmonization of standards and practice in all these areas throughout the EU and beyond.

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.

Mitelman Database
The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates chromosomal aberrations 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) led the National Institutes of Health’s (NIH) contribution to the International Human Genome Project, which had as its primary goal the sequencing of the human genome. This project was successfully completed in April 2003. Now, the NHGRI’s mission has expanded to encompass a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease.

OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. 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.

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.

SimulConsult
SimulConsult’s medical decision support software allows doctors and other medical professionals to combine clinical and laboratory findings and get a ”simultaneous consult” about diagnosis. The software suggests diagnoses and also identifies other findings that will be most useful in reaching a diagnosis.

UK NHS Genetics Education for Healthcare
The UK NHS National Genetics Education and Development Centre is working with a range of groups to facilitate the integration of education in genetics and genomics into all levels of education and training for health professionals.

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.

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.

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

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.

SFMG Facebook Page
SFMG på Facebook

SFMG Google+ Page
SFMG på Google+

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.