ERN-ITHACA – Helsinki Centre

Scope: The area of expertise of the Helsinki Center of the ITHACA European Reference Network (ERN) covers all syndromes exhibiting anomalies and/or intellectual disability (ID).

Organization of the ITHACA ERN – Helsinki Centre:

The Hospital District of Helsinki and Uusimaa (HUS), with Helsinki University Hospital (HUH) and affiliated surrounding hospitals, has > 22,300 employees and is the second largest hospital organization in the world. It is the only hospital in Finland that offers comprehensive care in all fields of medicine in Finland. HUH is resourced accordingly, with adequate numbers of operating theatres, intensive care units, isolation rooms, 24/7 services and emergency rescue, as well as the largest number of highly subspecialized experts in Finland.

HUSLAB, our accredited and internationally certified hospital district-owned laboratory, is the largest in Finland with over 1500 employees, and it performs over 19 million lab tests annually for approximately 1.6 million inhabitants.

HUS Medical Imaging Center is the largest medical imaging center in Finland and its services are fully accredited. Its services (e.g. x-ray, scanning, ultrasound, CT, MRI, isotope scanning, PET-CT) cover the needs of all specialties, thus also ours and those we may need to consult.

The Dept. of Clinical Genetics is a part of HUSLAB. Our program works at two levels: we have a group of specialists in our unit and we have a wide network within the whole HUH and even beyond.

Services to patients:

Dept. of Clinical Genetics offers consultations for children and adults including diagnostic consultations, carrier screening, genetic counselling, prenatal diagnosis and pre-implantation diagnostics.

Multidisciplinary medical needs of this patient group are addressed through consultations to other specialists for example neurologist, endocrinologist, surgeon, cardiologist, ophthalmologist, otologist, dermatologist, and dentist for pediatric and adult patients. The patients can also be referred to physiotherapists, social workers, nutritionists, and rehabilitation counsellors. We refer the patients with congenital malformations and ID to the special workers of that clinic where the follow‐up is performed.

When needed, we refer patients to psychological or psychiatric consultations which are accessible internally at the Helsinki University Hospital. Psycho‐social support is also offered via the Norio Centre ( with special expertise on rare disorders with ID. To cover the social need brought on by a rare disease, patients are provided written information and contact detail of available patient organizations.

Further information

Lead:  Dr Kristiina Aittomaki

Department of Clinical Genetics
HUCH – Helsinki University Central Hospital
Meilahdentie 2

Tel:       358 9 471 72189