In the clinicpatientsand families withHuntington'sDisease (HD)from across the countryare seen for geneticcounseling, testingand treatment.Here,neurologists,geneticists,psychiatrists, psychologists,social workers, nursesand secretariesare allfamiliar withHD. We conduct clinicalresearch onHS.
Neurologist Lena Hjermind
Research nurse Oda Jakobsen
The Memory Clinic
The Danish Huntington Registry
The registryis locatedatSection ofNeurogenetics, Departmentof Cellularand MolecularMedicine, The PanumInstitute.
This registry (approved bythe DPA) is primarilya researchregistry,butit is also usedfor diagnostics, includingprenatal diagnosisof at-risk HD individuals.The registry isnationwideand includesfor thetimebeeing (2011)about12,000 peoplespread over540families in whichHuntington's Disease (HD) occurs.
The registry isdivided intoanelectronicdatabase containingbiographical data andlaboratory resultsand a manualbook,which containsclinical information.
Contact person:
Clinical geneticist (emeritus) Sven Asger Sørensen
Section for Neurogenetics, The Panum Institute
Contact person:
dr. med. Lis Hasholt
Section forNeurogeneticsis the center forgenetic-and molecularbiological researchininheritedneurodegenerativediseases. Our focus is Huntington'sDisease(HD) andthe closely relateddiseases, which are alsodue tothe extension of aCAG-repeatsequenceina gene.Furthermore, researchinto Alzheimer'sdisease, Parkinson'sdisease, hereditaryforms ofspasticity anddystonia.Our research grouphas a longtraditionofresearch onHS, which includesstudies ofpatients as well ascellular- andanimal models ofthe disease.
Research Projects
Clinical and paraclinical
investigations of HD
patients are aiming at early diagnosis and biomarkers (MRI, SPECT and PET).
Sleep studies are ongoing at present. We are studying glucose
intolerance and predisposition to diabetes in HD patients.
Associate Professor Anne Nørremølle (geneticist)
Molecular studies of cell models (NT2/NT2-N)
and transgenic mice (R6/1) focuse on methods for down-regulation of huntingtin
and studies of the effect of an reduced expression of huntingtin.
Identification of genetic factors significant for age at onset of HD is also the subject of our
efforts.
Recently, cell dysfunction in non-neuronal tisues has also been the subject of
our studies. Studies of a secondary changed
gene expression profiles in HD fibroblasts compared to normal fibroblasts are
in progress.