Department of Medical and Clinical Genetics

The discipline of medical genetics operates at Biomedicum Helsinki.

The discipline has close contacts with other research groups of the Faculty and those financed by the Research Council of Finland working at Biomedicum, the Folkhälsan Research Center, the National Institute for Health and Welfare, and the research groups of the Institute for Molecular Medicine Finland.

Medical genetics is also closely connected with the Helsinki University Central Hospital (HUCS), as well as the Hospital District of Helsinki and Uusimaa (HUS), which together provide services to approximately 1.4 million residents and, in the case of certain rare diseases, to all Finnish residents. Research results in genetics are quickly utilised in patient diagnostics and the genetic counselling of patients and their families. Cooperation is also conducted with several modern specialised genetics laboratories located on the Meilahti Campus.
Education

The Department of Medical and Clinical Genetics provides basic education in medicine and dentistry with three courses whose scope is two credits each.

The Medical Genetics I course is organised in the autumn term of the third year of studies. The primary goal of the course is to provide the latest information on the structure of the genome, the identification of hereditary diseases and the use of gene tests in clinical diagnostics. The course consists of lectures, group instruction and patient appointments.

The topics explored in the lectures include the following:

  • Patterns of disease inheritance and the genome structure
  • Special genetic characteristics of the Finnish population
  • Traits of hereditary cancer
  • The latest research methods in molecular genetics and their applications in assessing the risk of recurrence of both monogenic diseases and multifactorial diseases of public health importance as well as their clinical diagnostics
  • Chromosomal disorders and related laboratory tests

The topics explored through groupwork include the following:

  • Presentation of family history data and the risk of developing a disease in the form of a family tree
  • Interpretation of gene tests
  • Familiarisation with the operations of a laboratory specialising in molecular genetics  
  • In addition, students have the opportunity to meet patients suffering from selected hereditary diseases.

The Medical Genetics II course is organised in the fifth year of studies. The students will be divided into two groups, of which the first will complete the course in the autumn term and the second in the spring term. The primary goal of the course is to instruct students in the identification of hereditary diseases and their molecular diagnostics as well as related legislation and questions of ethics. The course consists of lectures, group instruction and patient appointments.

The topics explored in the lectures include the following:

  • Hereditary disease from the perspective of both clinical work and molecular genetics
  • Prenatal foetal diagnostic studies
  • Operations of the register of congenital malformations
  • Study and treatment of developmental disability
  • Legislation related to gene tests and data protection

The topics explored through group instruction include the following:

  • Rare diseases, their identification and treatment
  • Services for developmentally disabled people 

The activities carried out at patient appointments include the following:

  • Meetings with patients suffering from hereditary diseases
  • Familiarisation with the content of genetic counselling
  • In addition, students draw up a slide show on their patients. 

The Odontological Genetics course is organised in the spring term of the second year of studies. The goal of the course is to learn to identify hereditary diseases and structural abnormalities associated with the teeth and the mouth, the use of DNA diagnostics and the role of heredity in common dental diseases. The course consists of lectures, group instruction  and group instruction involving patients.

The topics explored in the lectures include the following:

  • Structure of and changes in the genome
  • Odontological hereditary diseases and their patterns of inheritance
  • Special genetic characteristics of the Finnish population
  • Application of the latest research methods in molecular genetics to clinical diagnostics
  • The significance of pharmacogenetic testing to prescribing drugs

The topics explored through groupwork and group instruction involving patients include the following:

  • Presentation of family history data and the risk of developing a disease in the form of a family tree
  • Identification of abnormal features of the face in the dental profession
  • Utilisation of gene tests in connection with odontological diseases
  • Questions of ethics
  • In addition, students have the opportunity to meet patients suffering from odontological hereditary diseases.

Advanced research projects can be carried out in the research groups active at the department, and students can reach out directly to the relevant group leaders.
Research

The main research areas in medical genetics include

  • Identifying novel hereditary disorders and their genetic components
  • Identifying the heredity of disorders and their gene mutations and/or risk alleles
  • Studying mutual interaction between genes and environmental factors
  • Studying gene functions and regulation, or epigenetics
  • Gene diagnostics
  • Tumour genomics
  • Studying molecular pathogenesis

Publications
Contact details

Head of de­part­ment

professor Päivi Peltomäki

paivi.peltomaki@helsinki.fi

PO BOX 63 (Haartmaninkatu 8)

00014 University of Helsinki

Ad­dress

PO BOX 63 (Haartmaninkatu 8)

00014 University of Helsinki