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Joanne Trinh and her group has identified a completely novel repeat interruption that exists in mosaic form within the expanded SINE-VNTR-Alu(AGAGGG)n repeat of TAF1. These repeat interruptions differ in repeat motif sequence and have been coined the new term mosaic Divergent Repeat Interruptions affecting both motif Length and Sequence (mDRILS)1. Their seminal work illustrates the […]

Theresa was invited as a young investigator to present how Nanopore long-read sequencing was used to detect repeat motif interruptions in patients with X-linked dystonia-parkinsonism. The Congress will take place June 11th-14th 2022.    

Semra Öykü Çolak from Acibadem University, Istanbul, has joined the Institute of Neurogenetics for a two-month internship starting April 2022. Semra is a fifth-year medical student who aspires to be a neurologist in the future. She previously held an internship at Universitätsklinikum Jena and studied human cytogenetics. She is here to broaden her knowledge of

We are delighted to welcome Professor M. Leonor Bustamante who is joining us as a Visiting Professor for this month. M. Leonor Bustamante, MD, PhD is an Assistant Professor at the Human Genetics Program, Biomedical Sciences Institute, Faculty of Medicine at the Universidad de Chile.  She works on Genetics of Neuropsychiatric disorders, where she together

On the 21st of December, 2021, Dr. Daniel Alvarez Fischer gave an inaugural lecture (Antrittsvorlesung) entitled: “(Tier-)Modelle neuropsychiatrischer Erkrankungen und praktische Implikationen“.

Sophie Imhoff

Joanne Trinh

FOR 2488’s Annual Retreat took place from September 16th-18th, 2021 in Lübeck, Germany. During the two-day event, participants gathered to exchange and discuss data and research ideas, as well as establish new collaborative initiatives.

Prof. Dr. Christine Klein (Foto: © DGN/Tedeskino)

This systematic MDSGene review covers individuals with confirmed genetic forms of primary familial brain calcification (PFBC) available in the literature. Data on 516 individuals, carrying heterozygous variants in SLC20A2 (61%), PDGFB (12%), XPR1 (16%), or PDGFRB (5%) or biallelic variants in MYORG (13%) or JAM2 (2%), were extracted from 93 articles. Nearly one-third of the