Please note that this overview is not exhaustive and is continuously updated as new studies are initiated and new research findings become available.
Skeletal dysplasia
Skeletal dysplasia is a collective term for a group of rare genetic disorders that affect the development of bones, joints, and cartilage. More than 400 different types of skeletal dysplasia have been identified, and symptoms can vary considerably from person to person. The most well-known form is achondroplasia, which is one of the most common forms of dwarfism.
The physician responsible for this research area is Senior Consultant Hanne Hove, MD.
Selected publications:
Rare metabolic diseases
Rare metabolic diseases are a group of rare, inherited disorders in which the body's metabolism does not function normally. These conditions are often caused by the absence or deficiency of an enzyme or protein required to process specific nutrients. As a result, important substances may accumulate in the body or be present in insufficient amounts, potentially affecting the brain, muscles, liver, and other organs.
The physician responsible for this research area is Senior Consultant, Professor, DMSc Allan Lund.
Selected publications:
Lysosomal diseases
Lysosomal diseases are a group of rare, inherited metabolic disorders caused by defects in the lysosomes, the cell's natural recycling system. When lysosomes do not function properly, various substances accumulate within the body's cells and tissues, which over time can damage organs such as the brain, nervous system, muscles, bones, and other internal organs. More than 50 different lysosomal diseases have been identified, including metachromatic leukodystrophy (MLD) and Pompe disease.
The physician responsible for this research area is Resident Merete Ljungberg.
Selected publications:
Neurological and Neuromuscular Diseases
Neurological diseases comprise a broad range of conditions affecting the brain, spinal cord, or peripheral nervous system. These disorders can affect movement, muscle strength, balance, development, learning, and everyday functioning. Some neurological diseases are present from birth, while others develop later in childhood.
The physicians responsible for this research area are Senior Consultant, PhD Malene Landbo Børresen, Senior Consultant, PhD Alfred Peter Born, and Senior Consultant, Professor, DMSc Christina Høi-Hansen.
Selected publications: