Center for Progeroid Syndromes
The Center for Progeroid Syndromes is a specialized center at the Center for Rare Diseases Göttingen (ZSEG). It unites the outstanding expertise and experience of physicians and scientists in the research, diagnostics and management of these very rare disorders and offers one-stop genetic counselling and clinical care of patients and their families.
Progeroid syndromes are rare congenital disorders characterized by signs and symptoms of premature or accelerated aging. They may, for example, lead to early manifestation of age-associated conditions such as atherosclerosis, cancer or neurodegeneration.
Typical features of progeroid syndromes include loss of hair, brittle bones, atherosclerosis, hearing loss, lipodystrophy. As these aging-associated features do usually not affect all organ systems or tissues, these disorders are also called “segmental progeroid syndromes”.
Progeroid syndromes are mostly monogenic disorders, i.e. they are caused by a defect in a single gene. As far as the specific genes are known, they encode mainly proteins that impact on the nuclear membrane or the chromatin structure and transcription or act in various mechanisms involved in DNA damage repair.
Numerous progeroid syndromes have been described with often considerably overlapping phenotypes, which makes it challenging to establish a precise clinical diagnosis. We have gained the long experience needed to evaluate and distinguish progeroid conditions, and next-generation sequencing technology provides us with tools that facilitate their molecular diagnosis. In specific panels we can now simultaneously analyze a large number of potentially progeria-causing genes.
Research on progeroid syndromes
Progeroid syndromes are one of our key research areas. We use whole-genome and whole-exome sequencing to discover new associated genes. Then we functionally analyze identified variants and their encoded proteins to explore how they act in signaling pathways and molecular mechanisms and what cellular processes underlie aging-associated pathologies.
In particular, our researchers focus on
- Wiedemann-Rautenstrauch syndrome and other neonatal forms of progeria
- Hallermann-Streiff syndrome
- Hutchinson-Gilford progeria syndrome and similar syndromes
- Unspecific progeria manifesting in early childhood
- Syndromic forms of cutis laxa with progeroid phenotype
- Cockayne syndrome and other syndromes with defects in DNA damage repair
If you would like to learn more about our progeria research projects, please see the Wollnik Research Group for further information.
Molecular diagnostics of progeroid syndromes
We strive to rapidly translate new insights gained from our research activities into our routine diagnostic services. Specific progeria panels offered by our laboratory for NGS-based analysis currently include 85 genes.
For a comprehensive list of our progeria panels and our sample submission form, please see our Diagnostics section.
Progeria clinic
The care of patients with progeroid syndromes requires an integrated approach involving experts from various disciplines depending on the individual child’s condition. In our progeria clinic, clinical geneticists and pediatricians work together so that clinical examination, diagnostic assessment and genetic counselling can be provided to the families at one visit. If needed, specialists from other departments will join the multidisciplinary team.
For molecular testing, our diagnostic laboratory offers a large number of NGS-based progeria panels. If the analysis of known progeria-associated genes does not result in a diagnosis, we may offer the family to participate in one of our research studies in which we try to determine the genetic cause in patients with an undiagnosed progeroid disease.
Contact and appointments
The clinic is held at the Institute of Human Genetics at regular intervals. You need to make an appointment for your visit.
Institut für Humangenetik
und Medizinisches Versorgungszentrum der UMG, Bereich Humangenetik
Administration
Ms Antje von Pietrowski
To schedule an appointment, please call us on Monday through Thursday from 08:30 to 12:00.
Phone: +49-551-39-60606
Clinical Partners
Institute of Human Genetics
Director: Prof. Dr. med. Bernd Wollnik
bernd.wollnik@med.uni-goettingen.de
Dr. med. Julia Schmidt
julia.schmidt1@med.uni-goettingen.de
Department of Pediatrics
Head of Community Pediatric Services (Sozialpädiatrisches Zentrum):
Univ.-Prof. Dr. med. Knut Brockmann
Other cooperating UMG Departments and Institutes
Cardiology & Pneumology
Dermatology, Venereology and Allergology
Nephrology & Rheumatology
Gastroenterology and Endocrinology
Ear, Neck & Throat
Ophthalmology
Molecular Biology