Projects per year
Personal profile
Profile
Consultant at Centre for Rare Diseases at Aarhus University Hospital. Studies syndromes, dysmorphology, genetics, neurodevelopmental disorders and inborn errors of metabolism.
Participates in committee work through Danish Departments of Health and Social Services.
Chair, Danish Medicines Council Standing Committee on Rare Diseases in Children. Responsible for overseeing the evaluation process, assisting in drafting of evaluation reports and presentation of cases to the Danish Medicines Council for decision.
Thus far taken part in evaluation of the following applications: velmanase-alfa in alfamannosidosis, atidarsagene automcel in metachromatic leukodystrophy, vosoritide in achondroplasia, selumetinib in plexiform neurofibromas in NF1, omaveloxolone in Friedreich's ataxia.
Speaks in a variety of settings and teaches with a focus on education of e.g. dentists, ophthalmologists, geneticists and on topics including dysmorphology, craniofacial malformations and inborn errors of metabolism.
Brian Nauheimer Andersen’s work has appeared in Expert Review of Neurotherapeutics, European Journal of Medical Genetics, Frontiers in Neurology, Progress in Pediatric Cardiology and other journals.
Speaks, reads and writes Danish, Swedish and English
Speaks and reads Norwegian and German
Education/Academic qualification
Board Qualified Specialist in Pediatrics (Sweden)
Award Date: 11 Apr 2024
Board Qualified Specialist in Pediatrics (Norway)
Award Date: 8 Apr 2024
Board Qualified Specialist in Pediatrics
Award Date: 31 Dec 2013
MD, University of Southern Denmark (SDU)
Award Date: 15 Jun 2005
External positions
Private practice, Børnelæge Syd
Aug 2018 → Jun 2024
Consultant, Aarhus University Hospital (AUH)
Aug 2018 → …
Medical consultant, Socialstyrelsen
2017 → 2020
Senior registrar, Aarhus University Hospital (AUH)
Aug 2015 → Jul 2018
Registrar, Odense University Hospital
Feb 2015 → Jul 2015
Senior registrar, Lillebælt Hospital
Jan 2014 → Jan 2015
Senior resident, Sydvest Sygehus
Jan 2012 → Dec 2013
Resident, Odense University Hospital
Oct 2009 → Dec 2011
Reservelæge, intro(pæd), Lillebælt Hospital
Dec 2007 → Sept 2009
Praktiserende læge, Region Västra Götaland
Jun 2007 → Nov 2007
Intern, Lillebælt Hospital
Sept 2005 → May 2007
Lægevikar, gyn/obs+kirurgi, Haderslev Hospital
Apr 2003 → Jul 2005
Lægevikar, psykiatri, Haderslev Hospital
Jun 2002 → Dec 2006
Lægevikar, psykiatri, Anæstesi Afdeling, Ribe Sygehus, Esbjerg
Jul 2001 → Nov 2008
Nurses assistant, Landspitali University Hospital
1999 → Jul 1999
Areas of expertise
- Neuropediatrics
- Dysmorphology
- Genetics
- PI3K/AKT/mTOR Pathway
- Vascular malformations/overgrowht
Fingerprint
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Incidence of Aicardi-Goutières syndrome (AGS) and KCNT1-related epilepsy in Denmark
Andersen, B. N. (PI), Dunø, M. (PI) & Møller, R. S. (PI)
01/04/2021 → 15/10/2022
Project: Research
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Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2
Markholt, S., Andreassen, L., Bjerre, J. V., Gregersen, P. A. & Andersen, B. N., Feb 2023, In: European Journal of Medical Genetics. 66, 2, 104695.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile1 Citation (Scopus)12 Downloads (Pure) -
Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for Patients with CLN3 (Batten Disease)
Andersen, B. N., 1 Apr 2024, (In preparation) In: Orphanet Journal of Rare Diseases.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
Herlin, L. K., Herlin, M. K., Blechingberg, J., Rønholt, K., Graversen, L., Schmidt, S. A. J., Jørgensen, M. W., Hellfritzsch, M. B., Hald, J. D., Beck-Nielsen, S. S., Gjørup, H., Andersen, B. N., Gregersen, P. A. & Sommerlund, M., Jun 2024, In: European Journal of Medical Genetics. 69, 8 p., 104937.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome
Markholt, S., Skaerbaek, J., Munk, K., Andersen, B. N., Lilballe, D. L., Blechingberg, J., Petersen, J. P., Bjerre, J. V., Gregersen, P. A. & Kyng, K. J., Dec 2024, In: Progress in Pediatric Cardiology. 75, 101751.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Fjederkraniotomi til børn med kraniosynostose
Andersen, B. N., 1 May 2024, (In preparation) In: Ugeskrift for Læger. UFL-12-23-0791.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Activities
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Danish Medicines Council
Andersen, B. N. (Chair)
3 Jun 2022 → …Activity: Presentations, memberships, ownership and other activities › Member of committee, council or board
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Nordic NCL conference
Andersen, B. N. (Participant)
21 Nov 2023 → 23 Nov 2023Activity: Participating in or organising an event types › Participation in or organisation af a conference
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The sleepy child
Andersen, B. N. (Lecturer)
18 Nov 2023Activity: Presentations, memberships, ownership and other activities › Lecture and oral contribution
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European Respiratory Society International Congress
Andersen, B. N. (Participant)
9 Sept 2023 → 13 Sept 2023Activity: Participating in or organising an event types › Participation in or organisation af a conference
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Genetik- og screenings udvalget, Dansk Pædiatrisk Selskab
Andersen, B. N. (Member)
May 2023 → …Activity: Presentations, memberships, ownership and other activities › Member of committee, council or board
Press/Media
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Blot at kende diagnosen giver empowerment til familier med sjældne diagnoser
05/04/2023
1 Media contribution
Press/Media: Press / Media
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Sjældne sygdomme hos børn har et ekstra kompliceret etisk twist
20/02/2023
1 Media contribution
Press/Media: Press / Media
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Nyt initiativ i sundhedsvæsenet: Netværk om sjældne sygdomme på hospitalerne
20/02/2023
1 Media contribution
Press/Media: Press / Media
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EVEROLIMUS MÅSKE PÅ VEJ SOM BEHANDLING TIL EPILEPSI
06/06/2017
1 Media contribution
Press/Media: Press / Media
Courses
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Kursus for videreuddannelsen i ortodonti: Genetik og fænotype ved sjældne sygdomme og medfødte misdannelser.
Gjørup, H. & Andersen, B. N. 29/11/2021 → 01/12/2021
Course: Teaching
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Parent and care giver course. NCL disease entity.
Andersen, B. N. 01/01/2016 → 31/12/2020
Course: Teaching
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Parent and care giver course on tuberous sclerosis
Andersen, B. N. 01/01/2016 → 31/12/2020
Course: Teaching
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Specialespecifikt kursus HK13: Genetik, Børne- og Handicapoftalmologi
Welinder, L. G. & Andersen, B. N. 17/06/2019 → …
Course: Teaching