News

Registration is now open for the upcoming 2nd TRAIN Omics Days Lower Saxony 2025. The conference will be held in Hannover on 24-25 November.

All interested individuals from the TRAIN partner institutes from the field of molecular and translational health research can participate. Registration Deadline: 1 November 2024

The preliminary program and all information on calls for projects and posters can be found on the conference website:

MoReHealth Niedersachsen is an innovative research project bringing the latest multi-omics research—meaning the simultaneous analysis and interpretation of different biological layers such as DNA, proteins, and metabolic products—into broadly applicable, personalized healthcare. The project is conducted by leading experts from top scientific institutions in Lower Saxony: Hannover Medical School (MHH), University Medical Center Göttingen (UMG), the Helmholtz Centre for Infection Research in…

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.

JCI Insight. 2025 Mar 25:e173484. doi: 10.1172/jci.insight.173484. Epub ahead of print.

Article in Pubmed.

Mutations in the RP2 gene cause a specific form of retinitis pigmentosa, a group of inherited retinal disorders. The InsightRP2 registry helps clinicians and researchers better understand the genetic basis and progression of RP2-associated retinitis pigmentosa. Additionally, they can focus their research and the development of future treatment approaches on enhancing the quality of life for patients.

Building upon success following release of the first patient registry for isolated hearing impairment due to otoferlin-related hearing impairment in late 2023, we are pleased to announce the addition of a second registry for patients with CABP2 (DFNB93) diagnoses. This dedicated database is a collaborative effort between the Institute of Human Genetics and Institute for Auditory Neuroscience at the University Medical Center Göttingen (UMG).

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes. Schmidt J, Kaulfuß S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B. Hum Genet 2024 Jan 24. doi: 10.1007/s00439-023-02634-1. Epub ahead of print.

Article in PubMed.

Patients diagnosed with hearing loss due to variants in the otoferlin gene, or OTOF, can now participate in a specific registry at the University Medical Center Göttingen (UMG). The registry, which is administrated in a collaboration by the Institute of Human Genetics and the Institute of Auditory Neuroscience, connects patients with scientists that are experts in the research into various forms of hearing loss, their genetic basis and potential new approaches for their treatment.

Congenital rare skeletal disorders are conditions that affect the development and growth of bone and cartilage tissue. In most cases they are genetic in nature. They manifest either as skeletal malformations alone or as characteristic combinations of symptoms that can also involve other tissues.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Hum Genet. 2023 Mar 21. doi: 10.1007/s00439-023-02528-2. Epub ahead of print.

Article in PubMed.

New insights into how senescent cells play a role in wound healing not only through its secretory action but also by impacting on cell mechanics have been provided by a study performed at Charité Universitätsmedizin Berlin and published in Aging Cell. Led by Uwe Kornak, professor at the Institute of Human Genetics Göttingen, and Ansgar Petersen, professor at Julius Wolff Institute of Charité, a team of scientists has revealed that cellular senescence beneficially influences tissue formation by…

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum. Front. Cell Dev. Biol.. 2022 10:1025332. doi: 10.3389/fcell.2022.1025332.

Article in Frontiers

WARS1 is one of many key enzymes required for protein synthesis. Genetic variants in WARS1 are rare, with extremely limited evidence implicating it in a clinically heterogeneous autosomal recessive disorder. A study led by PD Dr Barbara Vona, researcher at the Institute of Human Genetics and the Institute of Auditory Neuroscience at the University Medical Center Göttingen, identified two families with different homozygous variants in WARS1 that show varying severities of intellectual disability…

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly. Hum Mutat. 2022 Jul 5. doi: 10.1002/humu.24430. Epub ahead of print.

Article in PubMed.

In a young patient referred to the Institute of Human Genetics at the University Medical Center Göttingen, the clinical suspicion of Proteus syndrome was made and confirmed by molecular genetic diagnostics. The patient presented with a progressively protruding frontal bone due to an intraosseus lipoma (a benign tumor of fat tissue) and, additionally, mild developmental delay, unilateral hearing impairment, strabism and a dermoid of the eye.

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures. Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B. Hum Mol Genet. 2022 Jan 31:ddab373. doi: 10.1093/hmg/ddab373. Epub ahead of print.

Article in PubMed

Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary disorders of the heart. It causes thickening of the heart muscle, which may impair the heart’s function. Several hundreds of variants in more than 20 genes are known to cause HCM. Modern molecular genetic diagnostics using high-throughput sequencing increasingly detect additional, previously unknown variants as potential genetic factors underlying HCM.

Survey of germline variants in cancer-associated genes in young adults with colorectal cancer

RNF43 pathogenic Germline variant in a family with colorectal cancer

Articles in PubMed

Familial cleft tongue caused by a unique translation initiation codon variant in TP63. Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B. Eur J Hum Genet. 2021 Oct 11. doi: 10.1038/s41431-021-00967-x. Epub ahead of print.

Article in PubMed

Biallelic variants in YRDC cause a developmental disorder with progeroid features. Hum Genet. 2021 Sep 20. doi: 10.1007/s00439-021-02347-3. Epub ahead of print.

Article in PubMed

Researchers of the Institute of Human Genetics at the University Medical Center Göttingen, together with their colleagues at the Institute of Human Genetics in Essen and other collaboration partners, identified two novel disease-causing variants in the MFSD2A gene. The encoded protein is a transmembrane molecule and is, for example, responsible for transporting certain essential fatty acids through the blood-brain barrier.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Genet Med. 2021 Jul 9. doi: 10.1038/s41436-021-01260-4. Epub ahead of print.

Article in PubMed

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. J Med Genet. 2021 Jun 25:jmedgenet-2021-107769. doi: 10.1136/jmedgenet-2021-107769. Epub ahead of print.

Article in PubMed

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nat Commun. 2021 May 21;12(1):3014. doi: 10.1038/s41467-021-23327-1.

Article in PubMed

Information about the services offered by the Center for Progeroid Syndromes

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

Article in PubMed

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.

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy. Hanses et al., Circulation 2020

Article in PubMed