Clinical Consultants

Mari Auranen

Clinical Consultant, MD, Ph.D.

Mari Auranen is MD, PhD, and graduated from University of Helsinki in 2000. Her PhD thesis in 2002 involved molecular genetic analyses of families suffering from diseases of autism spectrum and Asperger syndrome. She started her neurological training in Helsinki University Central Hospital from year 2003 onwards, and became a docent of neurology in year 2014. From the 1990’s Mari has been involved in the research projects on neuromuscular field, first in the development of diagnostic methods in tissue histochemistry for muscular dystrophies, and later in improving genetic diagnostics for hereditary neuropathies and spastic paraparesis. From year 2014 onwards she has been working as the head of the Neuromuscular Unit at Helsinki University Central Hospital.

Katariina Hannula-Jouppi

Clinical Consultant, MD, Ph.D.

Katariina Hannula-Jouppi is a Clinical Consultant in the field of dermatology. She has an MD-PhD degree and became adjunct professor in medical molecular genetics in 2014 and dermatology and allergology in 2015, from the Medical Faculty of University of Helsinki. Katariina is a consultant in Dermatology and Allergology and Head of Department at the Skin and Allergy Hospital, Helsinki University Hospital. Her current clinical practice and research focuses on genodermatoses, rare skin diseases and pediatric dermatology. She has over 20 years of expertise in genetic research on e.g. the epigenetics of human growth and dyslexia genetics.

Matti Hero

Clinical Consultant, MD, Ph.D.

Matti Hero works as a consultant at the Pediatric Endocrinology and Metabolic Bone disease Units of the Children’s Hospital, Helsinki University Central Hospital. He is specialized in pediatrics and pediatric endocrinology and has a PhD degree (2007). He is an active clinical researcher and currently focuses on disorders of growth and pubertal maturation. He is a principal investigator in several government funded clinical trials.

Hannu Jalanko

Clinical Consultant, MD, Ph.D.

Hannu Jalanko is a Clinical Consultant in the field of nephrology. His contribution is essential part of the interpretation process where clinical and genetic information are put together into a well-informed clinical statement. Hannu is the head of Pediatric Nephrology and Transplantation at Children´s Hospital, University of Helsinki, Finland. Hannu has an MD-PhD-degree and is a professor and specialist in pediatrics and pediatric nephrology. He has published around 220 original articles and international reviews dealing with the pediatric nephrology and transplantation with a special interest in genetic kidney diseases.

Riku Kiviranta

Clinical Consultant, MD, Ph.D.

Riku Kiviranta has MD, PhD degree and is specialized in Endocrinology. Riku received his PhD in molecular biology and continued his research career as a postdoctoral fellow at Yale University School of Medicine and later at Harvard Medical School in the USA. During his four-year postdoctoral period Riku focused on the molecular regulation of bone formation and resorption. After returning to Finland Riku has continued his research at the University of Turku leading his own research team, that focuses on the transcriptional and epigenetic mechanisms regulating bone cell differentiation as well as on Wnt signaling in bone. Riku is Adjunct professor in Molecular Medicine and he also continues his clinical career as a consultant in Endocrinology at the Turku University Hospital.

Minna Koskenvuo

Clinical Consultant, MD, Ph.D.

Minna Koskenvuo is a Clinical Consultant in the field of hematology and oncology in Blueprint Genetics. Minna has an MD-PhD degree and is specialized in pediatrics and pediatric hematology and oncology. She has a PhD in pediatrics. In 2007 she continued her research at Stanford University, School of Medicine, in the Division of Immunology and Transplant Biology. Since 2009 she continued clinical work and clinical research in Turku University Hospital and since 2014 n Children’s Hospital, Department of Pediatric Hematology and Oncology and Stem Cell Transplantation, Helsinki University Central Hospital, Helsinki, Finland.

Helena Kääriäinen

Clinical Consultant, MD, Ph.D.

Helena Kääriäinen is a Clinical Consultant in the field of clinical genetics, especially dysmorphology. Her contribution is essential part of the interpretation process where clinical and genetic information are put together into a well-informed clinical statement. Helena has got her MD and PhD degrees at the Medical Faculty of University of Helsinki. She has worked as Professor of Medical Genetics at the Universities of Helsinki and Turku and as the Head of the Clinical Genetics Departments of these University Hospitals. At present, she is Research Professor at National Institute for Health and Welfare, Helsinki, Finland. In addition to these clinical and research positions, she has been actively involved in the work of European Society of Human Genetics and The International Federation of Human Genetics Societies.

Risto Lapatto

Clinical Consultant, MD, Ph.D.

Risto Lapatto is a Clinical Consultant in the field of inherited metabolic disease. His contribution is an essential part of the interpretation process where clinical and genetic information are put together into a well-informed clinical statement. Risto has an MD-PhD degree and is specialized in pediatrics and pediatric endocrinology. He has taken care of patients with inherited metabolic disease for over 20 years and has also worked several years abroad in large tertiary hospitals. He is also a principal investigator in the University of Helsinki where he leads a clinical research group. He is a member of many professional organizations, e.g. the chairman of the Finnish Metabolic Club and a corresponding member of the SSIEM. He has served in many committees and organized numerous educational events.

Heikki Lukkarinen

Clinical Consultant, MD, Ph.D.

Heikki Lukkarinen is a Clinical Consultant in the field of pulmonology. His contribution is essential part of the interpretation process where clinical and genetic information are put together into a well-informed clinical statement. Heikki is specialized in pediatrics with special interest on rare pulmonary diseases. Heikki did the PhD on newborn lung injury in Turku University Hospital, Finland, and the post-doctoral studies on cytokine-induced lung injury in transgenic mouse models in Gothenburg University, Sweden. He has also done research on rare pulmonary diseases as well as on development of atopic airway diseases. He is a full-time clinician and head of the rare disease unit at Turku University Hospital.

Seppo Meri

Clinical Consultant, MD, Ph.D.

Seppo Meri, MD, PhD is a Professor of Immunology at the Medical Faculty, University of Helsinki, and Chief Physician of Research in Microbiology at HUSLAB, laboratory of the Helsinki University Hospital, Finland. He served as a postdoctoral fellow at the University of Texas in 1988 and in 1989-90 as an EMBO fellow at MRC, Cambridge, UK. He has published 240 original papers and 130 reviews or textbook chapters on complement, autoimmunity and microbial escape. His research interests include diseases related to disturbances in complement regulation (like hemolytic uremic syndrome), vascular damage and reasons for increased susceptibility to infections.

Eeva-Marja Sankila

Clinical Consultant, MD, Ph.D.

Eeva-Marja Sankila, MD, PhD, is a Clinical Consultant in the field of ophthalmology. Her contribution is essential part of the interpretation process where clinical and genetic information are put together into a well-informed clinical statement. Eeva-Marja’s long-time research interests include molecular genetics of inherited retinal dystrophies, especially choroideremia and Usher syndrome. She was a visiting research fellow at the Massachusetts Eye and Ear Infirmary in 1986, and a visiting professor at the Helen Wills Neuroscience Institute at UC Berkeley in 2005-2006. Since 2002, Eeva-Marja has led the genetic eye diseases unit which she founded at the Helsinki University Central Eye Hospital. She currently focuses on translational medicine, participating in international clinical trials aiming for therapies of inherited eye diseases.

Saku Sinkkonen

Clinical Consultant, MD, Ph.D.

Saku Sinkkonen has a MD-PhD degree and is specialized in otorhinolaryngology - head and neck surgery. His contribution is essential part of the interpretation process where clinical and genetic information are put together into a well-informed clinical statement. He has subspecialty training in otology. Saku has a PhD in neuroscience. In 2009 he continued his research at Stanford University, School of Medicine. During this 2-year postdoctoral training he focused on the mechanisms of inner ear hair cell regeneration for treatment of deafness. He has continued his research in otorhinolaryngology at the University of Helsinki.