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Clinical Genetics

PhD student​ Topic Project title Place of employment Supervisors​​​
​​Astrid Skov MidtiBy

​​Skeletal genetics 
​Genetics of Skeletal Dysplasias 
​Odense Universitets Hospital and Kennedy Center, Department of Clinical Genetics RH
​Hanne Hove, Zeynep Tümer, Jens-Michael Hertz, Lillian Ousager​
​​Cathrine Voigt Dalgaard

​Cellular and Genetic Medicine
​Assessment of efficacy and diagnostic value of whole genome sequencing for women with ovarian dysfunction
​Department of Cellular and Molecular Medicine
​Eva Ran Hoffmann, Morten Dunø, Anja Bisgaard Pinborg, Henriette Svarre Nielsen
​Cecilie Balslev Willerts
​Oncogenetics
​Risk-reducing mastectomy and immediate breast reconstruction
- psychological and oncological perspectives
​Department of Plastic surgery, Herlev hospital
​Lisbeth Hölmich, Pernille Bidstrup, Lenne Mellemkjær, Anne-Marie Gerdes, Niels Kromann
​​​Evangelia Alexopoulou​

​​Reproductive genetics
​​Identifying genetic variants associated with idiopathic premature ovarian insufficiency (POI).
​​KU and the fertility clinic Rigshospitalet
​Anja Pindborg, Eva Hoffmann, Morten Dunø​
​Jesper Kayser
​Neurogenetics
Genetics and Neuro-functional Examinations to Support Individualized Solutions for Cerebral Palsy Prognosis (GENESIS-CP)
​Department of Neuroscience, University of Copenhagen
​Jens Bo Nielsen, Jørgen E Nielsen, Tua Vinther-Jensen, Jakob Lorentzen, Elsebet Østergaard
​Kirstine Bolette Boysen​
​​Ophthalmo-genetics
​Stickler Syndrome - Timely diagnosis to prevent blindness in young adults
​Kennedy Center, Ophthalmology, Glostrup-RH
​Line Kessel, Mette Bertelsen, Morten La Cour, Stense Farholt​​
Lasse Jonsgaard Larsen
Cell signaling
Hedgehog signaling in Tuberous Sclerosis Complex Kennedy Center, Department of Clinical Genetics, RH
Lisbeth Birk Møller, Elsebet Østergaard
Louise Fischer Christensen
​Ophthalmo-genetics
DanSleep – Danish study on sleep-wake disturbances in patients with retinitis pigmentosa
Department of Ophthalmology. Copenhagen University Hospital - Rigshospitalet
​Line Kessel, Lasse Jørgensen Cehofski, Poul Jørgen Jennum, Mette Bertelsen​
Maria Cecilie Barington Afzelius

​Neuromuscular disorders
Unraveling Neuromuscular Disorders: Identifying Novel Gene Variants and Disease Mechanisms through RNA sequencing
Department of Clinical Genetics
Elsebet Østergaard, Mads Bak, Morten Dunø
Mathilde Mussmann von Arenstorff

Ophthalmo-Genetics
Childhood glaucoma – functional and structural outcomes
​Kennedy Center, Ophthalmology, Glostrup-RH
Daniella Bach-Holm, Line Kessel, Mette Bertelsen, Karen Grønskov​
​Matthias Nybro Smith
​Reproductive Genetics
​PREPARE: Preconception and REproductive screening of PAREnts
​Department of Clinical Genetics
​Birgitte Diness, Laura Roos, Morten Dunø, Olav Bjørn Petersen​
Signe Vandal Pedersen

Neurogenetics
​Uncovering the genetic etiology of cerebral palsy in Danish children​
​Department of pediatrics and clinical genetics, RH
​Christina Høi-Hansen, Elsebet Østergaard