Clinical Genetics

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We study genetic disorders on a molecular level in order to understand disease mechanisms and apply new knowledge in genetic diagnostics. Our main interests are developmental disorders and malformations in the central nervous system, eczema, inherited immune defects and leukemia.

Research group leader 

Professor/senior physician

Richard Rosenquist Brandell

Organizational unit: Clinical Genetics
E-mail: richard.rosenquist@ki.se

Department of Molecular Medicine and Surgery
Center for Molecular Medicine, L8:02
Karolinska University Hospital, Solna
171 76 Stockholm

Research Area

Cancer genetics

We try to understand why patients with apparently identical forms of cancer show different course of the disease. We study chromosome aberrations and gene expression in different types of cancer cells.

Studies of the rare recessive Familial Hemophagocytic Lymphohistiocytosis (FHL) outlines mutations in known disease genes and tries to identify “new” genes for the disease in collaboration with scientists at the pediatric oncology unit.

Complex genetic disorders

The main interest are a couple of common disorders with combined genetic and environmental etiology. We study atopic eczema which affects about 10% of all children and developmental delay with a prevalence of about 2%. By family studies and expression analysis we have identified chromosomal genes predisposing for eczema. The main focus is presently on skin barrier genes.

Several lines of evidence indicate that genetic factors are important for developmental delay. We study constitutional chromosome abnormalities at the molecular level and “candidate genes” by sequence analysis. By outlining genetic mechanisms for birth defects we hope to explain the background for these handicaps and elucidate normal human development.

Members of the group

Postdoc

Jessica Alm

Organizational unit: Clinical Genetics
E-mail: jessica.alm@ki.se

Senior Lecturer

Gisela Barbany

Phone: +46-(0)8-517 737 88
Organizational unit: Clinical Genetics
E-mail: gisela.barbany@ki.se

Associate professor

Erik Bjorck

Phone: +46-(0)8-517 720 96
Organizational unit: Clinical Genetics
E-mail: Erik.Bjorck@ki.se

Associated

The-Hung Bui

Phone: +46-(0)8-51772472sekreterare
Organizational unit: Clinical Genetics
E-mail: The-Hung.Bui@ki.se

Associated

Diego Cortese

Organizational unit: Clinical Genetics
E-mail: diego.cortese@ki.se

PhD student

Alice Costantini

Organizational unit: Clinical Genetics
E-mail: alice.costantini@ki.se

Kurssekreterare

Eva Ekblom

Phone: +46-(0)8-517 746 04
Organizational unit: Clinical Genetics
E-mail: Eva.Ekblom@ki.se

Associated

MaiBritt Giacobini

Organizational unit: Clinical Genetics
E-mail: maibritt.giacobini@ki.se

Senior researcher

Peter Gustavsson

Phone: 51770858
Organizational unit: Clinical Genetics
E-mail: Peter.Gustavsson@ki.se

Associated

Maj Hulten

Organizational unit: Clinical Genetics
E-mail: maj.hulten@ki.se

PhD student

Anders Kämpe

Organizational unit: Clinical Genetics
E-mail: anders.kampe@ki.se

Associated

Viktor Ljungström

Organizational unit: Clinical Genetics
E-mail: viktor.ljungstrom@ki.se

Biomedical scientist

Lena Ljöstad

Phone: +46-(0)8-517 764 17
Organizational unit: Clinical Genetics
E-mail: lena.ljostad@ki.se

Associated

Larry Mansouri

Organizational unit: Clinical Genetics
E-mail: larry.mansouri@ki.se

Visiting professor

Outimaija Mäkitie

Organizational unit: Clinical Genetics
E-mail: outimaija.makitie@ki.se

Associated

Hero Nikdin

Organizational unit: Clinical Genetics
E-mail: Hero.Nikdin@ki.se

Associated

Arshad Noor Ul Ain

Organizational unit: Clinical Genetics
E-mail: arshad.noor.ul.ain@ki.se

Associated

Nadja Pekkola Pacheco

Organizational unit: Clinical Genetics
E-mail: nadja.pekkola.pacheco@ki.se

Associated

Fatemah Rezayee

Organizational unit: Clinical Genetics
E-mail: fatemah.rezayee@ki.se

Associated

Aron Skaftason

Organizational unit: Clinical Genetics
E-mail: aron.skaftason@ki.se

Associated

Kostas Stamatopoulos

Organizational unit: Clinical Genetics
E-mail: kostas.stamatopoulos@ki.se

Associated

Lesley-Ann Sutton

Organizational unit: Clinical Genetics
E-mail: lesley-ann.sutton@ki.se

Senior researcher

Anh Nhi Tran

Phone: +46-(0)8-585 704 53
Organizational unit: Clinical Genetics
E-mail: anh.nhi.tran@ki.se

Associated

Anna Vardi

Organizational unit: Clinical Genetics
E-mail: anna.vardi@ki.se

Associated

Johanna Winberg

Organizational unit: Clinical Genetics
E-mail: Johanna.Winberg@ki.se

Associated

Emma Young

Organizational unit: Clinical Genetics
E-mail: emma.young@ki.se

Associated

Ingegerd Öfverholm

Organizational unit: Clinical Genetics
E-mail: ingegerd.ofverholm@ki.se

Collaborations

Senior lecturer/senior physician

Maria Bradley

Organizational unit: Research Group M Bradley
E-mail: Maria.Bradley@ki.se

Genetics