Missbildningsgenetik

About 2 % of all children are born with a malformation. Our research focus on identifying different factors, environmental and genetic, that cause congenital malformations. Studying malformations increase our knowledge about foetal development and help us to optimize the treatment and improve the quality of life for the patients.
Hypospadia, an abnormally placed urinary opening, has an incidence of 1 in 300 boys in Sweden. Using a large family material we study the influence of environmental and genetic factors on the risk of developing hypospadia. We also perform clinical studies to improve the surgical treatment of severe cases of hypospadia by growing urothelial cells (tissue engineering). Infantile hypertrophic pyloric stenosis (IHPS) is a condition causing severe vomiting in the first few months of life. We have a large family material to study this condition and we have shown an association between IHPS and sudden infant death syndrome. Another malformation we study is bladder exstrophy where the child is born with an open bladder and abdominal wall. This condition is rare (1 in 35 000 births) and only about 3 children are born with this malformation in Sweden every year. Finally, we do long-term follow up studies of patients with congenital adrenal hyperplasia (CAH).

Om du skulle vilja stödja detta forskningsområde kan du göra det via följande konton:

BG 628-4418
PG 514114-8
Ange: Agneta Nordenskjöld

Om du befinner dig utanför Sverige, vänligen använd följande information:

Bank: SEB, Stockholm, Sweden
Kontonummer: 5201-11 370 12
Iban-nummer: SE16 5000 0000 0520 1113 7012
Bic-kod (bankens elektroniska adress): ESSESESS
Kontoinnehavare: Stiftelsen Centrum för Molekylär Medicin
L8:05, Karolinska Universitetssjukhuset
171 76 Stockholm, Sweden

CMM Research Groups

NEUROGENETIK OCH PSYKIATRISKA SJUKDOMAR

GENETISKA SJUKDOMAR

INFLAMMATORISKA SJUKDOMAR

KARDIOVASKULÄRA OCH METABOLA SJUKDOMAR