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Clinical genetics

Clinical genetics

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.

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.

Donations

Donations

   If you would like to support this area of research

   you could do that by using Swish transfer. 

  Our Swish number is 123-245 79 76

 

Always state the name of group leader in order for us to allocate the gift properly. 

Or you can also use the following accounts:

BG: 628-4418
PG: 514114-8

Always state the name of group leader in order for us to allocate the gift properly. 

If you are outside of Sweden, please use the following information:

Bank: SEB, Stockholm, Sweden
Account No. 5201-11 370 12
Iban-number: SE16 5000 0000 0520 1113 7012
Bic-code (the bank´s electronic address): ESSESESS
Account holder: Center for Molecular Medicine Foundation
L8:05, Karolinska University Hospital
171 76 Stockholm, Sweden

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Group leader

Richard Rosenquist Brandell

E-mail

richard.rosenquist@ki.se

Job title

Professor

House

U2 level 10

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Research

Haematology

Disease

Cancer