Recently published review article on premature ageing disorders

Our review article on premature ageing disorders

Schnabel F, Kornak U, Wollnik B.
Premature aging disorders: A clinical and genetic compendium.
Clin Genet. 2021 Jan;99(1):3-28. doi: 10.1111/cge.13837.

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Variants in SUFU gene cause congenital eye movement disorder


Schröder et al., Genetics in Medicine 2020, has been selected by the Research Committee of the University Medical Center Göttingen as Very Important Publication (Gö-VIP-23) in Category A – Clinical Science.

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CRISPR genome editing: A clinically translatable strategy to treat heart disease

Hanses et al., Circulation 2020


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Developing personalized therapy strategies for pancreatic cancer: UMG receives DFG funding

Developing new and specific therapeutic options for pancreatic cancer (PDAC) is the overall goal of a new Clinical Research Unit at the University Medical Center Göttingen, to which the German Research Foundation (DFG) has now granted nearly 5.9 million Euros in funding for a period of four years. The researchers of KFO 5002 “Deciphering genome dynamics for subtype-specific therapy in pancreatic cancer” are investigating the mechanistic and functional effects of deregulated genome dynamics, e.g. defects in genome stability, chromosome structure/function or DNA transcription. Their aim is to find out how these effects lead to specific features of different PDAC subtypes in terms of their progression and resistence and to use these new insights to develop novel and personalized therapeutic options. KFO 5002 has started its research activities in September and is coordinated by Prof. Volker Ellenrieder (Director Department of Gastroenterology and Gastrointestinal Oncology) and PD Dr. Elisabeth Heßmann (Department of Gastroenterology and Gastrointestinal Oncology).

The Institute of Human Genetics contributes significantly to KFO 5002 in two essential core projects that support the experiments performed in the different scientific subprojects. A multigene panel comprising 82 PDAC-associated genes has been specifically designed for the clinical research unit and is applied for molecular characterization of tumor samples by highthroughput sequencing (PD Dr. Silke Kaulfuß, Prof. Bernd Wollnik). NIG, the NGS Integrative Genomics Core Unit affiliated with the Institute and headed by Dr. Gabriela Salinas, performs next-generation sequencing-based transcriptome analyses for all CRC partners to decipher subtype-specific signatures.

PDAC is one of the most common tumors and has a very poor prognosis. It is an exceptionally aggressive type of cancer showing a remarkable therapeutic resistance. Therefore, innovative and better treatment strategies are desperately needed to improve survival rates of patients with pancreatic cancer.

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Common genetic cause of unclear disorder in three children uncovered

Researchers at the Institute of Human Genetics Göttingen have uncovered the genetic cause of a previously undescribed disorder associated with a combination of several malformations and intellectual disability. Surprisingly, their patients, three unrelated children, come from the same geographical region. Relatively little is known so far about the function of the identified gene, FBRSL1.

A study led by researchers of the Institute of Human Genetics at the University Medical Center Göttingen has uncovered the genetic cause of a new and complex syndromic disorder. Three children showed an overlapping clinical picture with a severe developmental delay, respiratory and swallowing problems, growth retardation, joint contractures, dysmorphic facial features and other malformations like heart defects. Two of the children had a particularly striking feature: distinctive skin creases, predominantly on the back, which were present at birth but decreased during the first year of life. This specific combination of features had not been described before. To find the underlying cause of the disorder and to provide the affected families with a precise diagnosis, the researchers performed exome sequencing. This molecular genetic tool allows to analyze in a single step all parts of a patient’s DNA that contain information required to make proteins. The researchers found that all three children carried a variant of the FBRSL1 gene. This gene and its encoded protein have so far not been investigated in detail.

“Usually, when we try to find a genetic defect that underlies an unclear disorder, we only have a single patient and his or her parents. If we find a candidate gene, the next step must then be to look for other patients who are similarly affected. This is quite challenging for a rare disorder which affects perhaps only a few patients across the globe”, says Professor Silke Pauli, research group leader at the Institute of Human Genetics Göttingen and senior co-author of the study. “Here, with three affected children, unrelated and coming from the same region, we have a rather unusual situation. It makes us assume that the disorder is not so very rare after all and might be present in more patients than previously appeared”.

To explore how the identified genetic changes affect cellular and molecular processes, the researchers performed various cell and animal experiments together with their collaboration partner Professor Annette Borchers and her team at the University Marburg. Their results suggest that a reduction in protein function during embryogenesis leads to a disturbance in neurodevelopment. In a project funded by the German Research Foundation (DFG), Professor Pauli and her team will now continue to gain deeper insights into the role of FBRSL1 in the development of the disease.

The study has been published in Human Genetics.

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S.
Hum Genet. 2020 May 18. doi: 10.1007/s00439-020-02175-x. Online ahead of print.

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