Anne Skakkebæk

Titel

Klinisk lektor, MD, ph.d.

Primær tilknytning

Anne Skakkebæk

Fagområder

  • Disorder of Sex Development
  • Kønskromosomsygdomme
  • Cytogenetik
  • Epigenetik
  • Genetik

Kontaktinfo

Mailadresse

Profil

I am a board-certified clinical geneticist and senior consultant at the Department of Clinical Genetics, Aarhus University Hospital, where I work with genetic diagnostics and counselling. I also hold the position of clinical associate professor at the Department of Clinical Medicine, Aarhus University. My primary professional and scientific focus is genetic disorders of sex development, with particular emphasis on sex chromosome aneuploidies. 

Forskning

My research aims to improve understanding of the genetic and epigenetic mechanisms underlying disorders of sex development and to strengthen clinical care through better knowledge of their natural history. Over the past 15 years, I have led and contributed to multidisciplinary studies that integrate clinical assessments with psychological, genetic, and molecular analyses. My work has focused in particular on the variability and complexity of sex chromosome aneuploidies and their lifelong health implications. I am part of the research leadership group at the Department of Clinical Genetics, where I contribute to strategic planning, coordination of research activities, and the development of new scientific initiatives. I publish in international peer-reviewed journals and serve as a peer reviewer for several high-impact journals in the fields of genetics, endocrinology, and reproductive medicine. I am guest editor for a two-part Special Issue in the American Journal of Medical Genetics Part C: Seminars in Medical Genetics titled Turner syndrome – Clinical insights and advances in healthcare across the lifespan.

Uddannelse

As a clinical associate professor, I teach clinical genetics and personalised medicine to medical students at Aarhus University. I have extensive experience in both undergraduate and postgraduate education and serve as co-course leader for the specialty-specific cytogenetics course. I supervise bachelor’s, master’s, and PhD students, and I am the formal supervisor for medical students completing the clinical component of their Master of Medicine programme at Aarhus University at our department. I frequently provide guest lectures nationally and internationally on sex chromosome disorders. I also contribute to international educational initiatives through my role in the Learning and Training Committee under the I-DSD consortium.

Samarbejder

My research and clinical work are supported by a broad national and international collaborative network. I work closely with colleagues across Aarhus University Hospital and Aarhus University, as well as with partners at regional and national levels. Internationally, I participate in networks such as the International Disorders of Sex Development Registry (I-DSD) and the Turner Syndrome Working Group under the European Society for Paediatric Endocrinology.

Rådgivning

I hold several commissioned positions, including:

Board member, International Scientific Committee for the International Workshop on Klinefelter Syndrome
Board member, Learning and Training Committee, I-DSD
Board member, Turner Syndrome Working Group, European Society for Paediatric Endocrinology
Board member, Research Working Group, Danish National Genome Center
Board member, Danish Cytogenetic Central Registry
Through these roles, I contribute to the development of research infrastructure, clinical standards, and international scientific collaboration in the field of sex chromosome disorders and clinical genetics.

Arbejdsområder

I am teamleader at the department and responsible for the genetic evaluation and counselling of individuals with disorders of sex development and sex chromosome aneuploidies. This includes coordination of diagnostic pathways, interpretation of genomic and cytogenetic results, and interdisciplinary case management. In addition, I have medical responsibility for the cytogenetic analyses performed in the Cytogenetic Laboratory at the Department. I contribute to national and international clinical guidelines.

Udvalgte publikationer

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