Mari Auranen, MD, PhD, graduated from the University of Helsinki in 2000. In 2002, her PhD thesis involved molecular genetic analyses of families suffering from diseases of the autism spectrum and Asperger syndrome. She started her neurological training at Helsinki University Central Hospital in 2003. In 2014, Mari became a docent of neurology. Since the 1990s, Mari has been involved in research projects in the 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. Since 2014, she has been working as the head of the Neuromuscular Unit at Helsinki University Central Hospital.
Katariina Hannula-Jouppi is a Clinical Consultant in the field of dermatology. She has an MD-PhD degree and became an adjunct professor in medical molecular genetics in 2014 and dermatology and allergology in 2015 at the Medical Faculty of the 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 topics such as the epigenetics of human growth and dyslexia genetics.
Matti Hero works as a consultant at the Pediatric Endocrinology and Metabolic Bone Disease Units at the Children’s Hospital, Helsinki University Central Hospital. He is specialized in pediatrics and pediatric endocrinology. In 2007, he completed his PhD degree. He is an active clinical researcher, currently focusing on disorders of growth and pubertal maturation. He is a principal investigator in several government-funded clinical trials.
Hannu Jalanko is a Clinical Consultant in the field of nephrology. His contribution is an essential part of the interpretation process where clinical and genetic information are assembled into well-informed clinical statements. Hannu is the Head of Pediatric Nephrology and Transplantation at Children´s Hospital, University of Helsinki, Finland. He 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 pediatric nephrology and transplantation with a special interest on genetic kidney diseases.
Riku Kiviranta has an MD-PhD degree and is specialized in endocrinology. Riku received his PhD in molecular biology. He continued his research career as a postdoctoral fellow at Yale University School of Medicine and later at Harvard Medical School in the US. During his 4-year postdoctoral period, Riku focused on the molecular regulation of bone formation and resorption. After returning to Finland, he has continued his research at the University of Turku. There he leads his own research team focused on the transcriptional and epigenetic mechanisms regulating bone cell differentiation, as well as on Wnt signaling in bone. Riku is an adjunct professor in molecular medicine, and he continues his clinical career as a consultant in endocrinology at the Turku University Hospital.
Helena Kääriäinen is a Clinical Consultant in the field of clinical genetics, especially dysmorphology. Her contribution is an essential part of the interpretation process where clinical and genetic information are assembled into a well-informed clinical statement. Helena received her MD and PhD degrees at the Medical Faculty of the University of Helsinki. She has worked as a Professor of Medical Genetics and as the Head of the Clinical Genetics Department at the University of Helsinki and the University of Turku. At present, she is a research professor at the National Institute for Health and Welfare in Helsinki, Finland. In addition to these clinical and research positions, she has been actively involved in the work of the European Society of Human Genetics and The International Federation of Human Genetics Societies.
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 assembled into well-informed clinical statements. 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 worked several years abroad in large tertiary hospitals. He is a principal investigator at the University of Helsinki where he leads a clinical research group. Risto is a member of many professional organizations, as the chairman of the Finnish Metabolic Club and a corresponding member of the SSIEM. He has served on many committees and organized numerous educational events.
Heikki Lukkarinen is a Clinical Consultant in the field of pulmonology. His contribution is an essential part of the interpretation process where clinical and genetic information are assembled into well-informed clinical statements. Heikki is specialized in pediatrics with a special interest in rare pulmonary diseases. Heikki completed his PhD on newborn lung injury at Turku University Hospital in Finland and his post-doctoral studies on cytokine-induced lung injury in transgenic mouse models at Gothenburg University in 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 the head of the rare disease unit at Turku University Hospital.
Seppo Meri 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. From 1989-90, he served 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 is a Clinical Consultant in ophthalmology. Her contribution is an essential part of the interpretation process where clinical and genetic information are assembled into a well-informed clinical statement. Her 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. From 2005 to 2006, she was a visiting professor at the Helen Wills Neuroscience Institute at UC Berkeley. Since 2002, she 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 for inherited eye diseases.
Saku Sinkkonen has an MD-PhD degree and is specialized in otorhinolaryngology - head and neck surgery. His contribution is an essential part of the interpretation process where clinical and genetic information are assembled 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 the treatment of deafness. He has continued his research in otorhinolaryngology at the University of Helsinki.
Juha is the Executive Director of Medical & Lab Director at Blueprint Genetics. He is a co-founder of the company as well. Juha is responsible for supervising laboratory production and for designing new diagnostic tests. On a daily basis, he participates in the clinical evaluation of genetic findings and further develops the company's variant classification and interpretation practices in collaboration with a team of geneticists. Juha has an MD-PhD from the University of Turku. In 2006, Juha completed his fellowship program in clinical physiology and nuclear medicine. The following year, he became a docent. From 2007 to 2009, he joined the UCSF Cardiac Stem Cell Translational Development Program (California, USA) as a post-doctoral researcher and later as a research specialist.