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Sofia Frisk

Sofia Frisk

Postdoktor
E-postadress: sofia.frisk@ki.se
µþ±ð²õö°ì²õ²¹»å°ù±ð²õ²õ: ̽»¨¾«Ñ¡, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postadress: K1 Molekylär medicin och kirurgi, K1 MMK Klinisk genetik, 171 76 Stockholm

Om mig

  • Jag arbetar som specialistläkare pÃ¥ Karolinska Universitetssjukhuset inom Klinisk Genetik och forskar parallellt inom sällsynta diagnoser pÃ¥ ̽»¨¾«Ñ¡. Jag träffar patienter utan känd diagnos och hjälper till att förhoppningsvis hitta orsaken för att sedan kunna Ã¥terkoppla och ge individanpassad genetisk rÃ¥dgivning till patienten/familjen.

    Jag skrev min avhandling om genetisk mosaicism vid sällsynta sjukdomar och disputerade 2022. Sedan 2022 representerar jag Karolinska Universitetssjukhuset i det europeiska referensnätverket för vaskulära anomalier VASCA-VASCERN. 

    Under 2023-2026 har jag erhÃ¥llit anslag frÃ¥n VetenskapsrÃ¥det att kartlägga bakomliggande genetiska mekanismer vid vaskulära malformationer (kärlmissbildningar) med mÃ¥l att kunna anpassa behandling utifrÃ¥n genetiska fynd (precisionmedicin). Detta för att varje patient ska fÃ¥ möjlighet till bättre livskvalitet med mindre besvär av sitt genetiska tillstÃ¥nd. 

Artiklar

  • Journal article: PRESSE MEDICALE. 2025;54(3):104293
    Fransen J; Frisk S; Ghaffarpour N
  • Journal article: JOURNAL OF VASCULAR ANOMALIES. 2025;6(1):e102
    Baselga E; Andersen R; Barea M; Bejarano Serrano M; Berger S; Bisdorff-Bresson A; Boccara O; Bom-Sucesso M; Boon LM; Borgards P; Diociaiuti A; Dompmartin A; Dvorakova V; El Hachem M; Frisk S; Gasparella P; Ghaffarpour N; Haxhija E; Hjuler T; Holm A; Kaltoft M; Kapp FG; Kyrklund K; Irvine AD; Madureira M; Palionis D; Rößler J; Salminen P; Tolonen J; Vaisnyte B; Van Den Bosch C; van der Vleuten C; Schultze Kool L; Vikkula M
  • Article: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):213
    Revencu N; Eijkelenboom A; Bracquemart C; Alhopuro P; Armstrong J; Baselga E; Cesario C; Dentici ML; Eyries M; Frisk S; Karstensen HG; Gene-Olaciregui N; Kivirikko S; Lavarino C; Mero I-L; Michiels R; Pisaneschi E; Schoenewolf-Greulich B; Wieland I; Zenker M; Vikkula M
  • Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
    Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
  • Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146
    Ponten E; Frisk S; Taylan F; Vaz R; Wessman S; de Kock L; Pal N; Foulkes WD; Lagerstedt-Robinson K; Nordgren A
  • Article: CLINICAL GENETICS. 2019;96(2):118-125
    Frisk S; Taylan F; Blaszczyk I; Nennesmo I; Anneren G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
  • Article: CLINICAL CASE REPORTS. 2018;6(11):2103-2110
    Frisk S; Grandpeix-Guyodo C; Silwerfeldt KP; Hjartarson HT; Chatzianastassiou D; Magnusson I; Laurell T; Nordgren A
  • Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2012;22:s29
    Sahlholm K; Frisk S; Marcellino D; Nilsson J; Fuxe K; Ã…rhem P
  • Article: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2006;120(6):383-390
    Andreasson H; Nilsson M; Budowle B; Frisk S; Allen M

Alla övriga publikationer

  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1128
    Hammarsjo A; Sollander K; Frisk S
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1128
    Hammarsjo A; Sollander K; Frisk S
  • Corrigendum: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):369
    Revencu N; Eijkelenboom A; Bracquemart C; Alhopuro P; Armstrong J; Baselga E; Cesario C; Dentici ML; Eyries M; Frisk S; Karstensen HG; Gene-Olaciregui N; Kivirikko S; Lavarino C; Mero I-L; Michiels R; Pisaneschi E; Schoenewolf-Greulich B; Wieland I; Zenker M; Vikkula M
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
    Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
  • Doctoral thesis: 2022
    Frisk S
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):462-463
    Frisk SA; Ponten E; Lagerstedt-Robinson K; Vaz R; Taylan F; Nordgren A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
    Taylan F; Frisk S; Blaszczyk I; Nennesmo I; Anneren G; Stattin E; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
  • Meeting abstract: BIOPHYSICAL JOURNAL. 2013;104(2):26A
    Sahlholm K; Frisk S; Nilsson J; Marcellino D; Fuxe K; Ogren SO; Arhem P
  • Conference publication: INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY. 2012;15:167
    Sahlholm K; Frisk S; Marcellino D; Nilsson J; Fuxe K; Arhem P
  • Meeting abstract: BIOPHYSICAL JOURNAL. 2012;102(3):517A
    Sahlholm K; Frisk S; Nilsson J; Marcellino D; Fuxe K; Arhem P
  • Meeting abstract: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2011;21:S511-S512
    Sahlholm K; Frisk S; Fuxe K; Arhem P

Forskningsbidrag

  • Swedish Research Council
    1 July 2023 - 30 June 2026
    Vascular anomalies are rare diseases that may cause important life-long morbidity, including chronic pain, bleeding/ulceration and death. Lately, it has been shown that genetic mosaicism is a common underlying mechanism of vascular anomalies. Although many genes have been discovered, numerous subtypes are still unexplained. Our aim is to decipher underlying genetic mechanisms of vascular anomalies, improve clinical characterization and enable precision-based health care for the patients. The research will be carried out in Prof. Miikka Vikkula’s group because of access to his large biobank of tissue-derived DNA from vascular anomaly patients, user-friendly software sequencing data filtering tools, extensive research network and close clinical collaborations with on-going clinical trials within vascular anomalies. By using the biobank of Prof. Vikkula’s group (based on samples from over 4,000 families (~12,000 samples), and more than 1,700 fresh frozen tissues), we plan to search for low-level mosaic variants in patients without known genetic etiology. We plan to use deep exome sequencing data of tissued derived-DNA and in some cases run droplet digital PCR for verification and quantification of mosaic variants.The available treatments are commonly not curative, and often impossible and/or risky to perform. Hence, there is an important unmet ̽»¨¾«Ñ¡ need to develop novel treatments. To enable precision-based care, it is important to indetify underlying mechanisms.

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  • Postdoktor, Molekylär medicin och kirurgi, ̽»¨¾«Ñ¡, 2025-2026

Examina och utbildning

  • Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, ̽»¨¾«Ñ¡, 2022

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