Rare diseases research group

A rare disease is defined as a disease that affects fewer than 1 in 2,000 individuals. There are more than 6000 different rare diseases, affecting 6-8% or about 300 million people in the world. More than 80% are genetic and they are often complex and highly disabling. Only 5% of rare diseases have adequate treatments and the diseases lead to profound social and economic consequences. People with rare syndromes have in common that some problems may still be unknown due to the fact that the diagnosis is rare. For the most part, hardly anyone in the area knows anything about the diagnosis. It is therefore not enough to struggle with the consequences of the diagnosis. You must also fight against ignorance to claim the right to support from health care and society. Many lack a correct molecular diagnosis, leading to risk of wrong diagnosis and inaccurate treatments. To ensure access to appropriate treatments and quality personalized health care, more information about the whole life perspective of the disease is needed.

The rare diseases group study rare diseases both clinically and at the molecular level to improve genetic diagnostics, increase knowledge about genotype-phenotype correlations and understand disease biology. The long-term goal is to identify biomarkers and to develop personalized therapeutics in order to improve the quality of life for individuals with rare diseases.

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/team 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/team 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