Mit dem neuen Format "gfh-genetalks-online" offeriert die GfH allen Mitgliedern und Interessierten eine Kommunikationsplattform, die einmal monatlich – voraussichtlich immer mittwochs – stattfinden soll. In 1 ½ stündigen Sessions präsentieren herausragende Experten unseres Faches ihre wissenschaftlichen Ergebnisse und Highlights, bei denen Sie die Möglichkeit erhalten, in die Diskussion einzusteigen und Fragen zu stellen. Die Teilnahme ist kostenlos.

gfh-genetalk-online 7..... 23.08.2023 .....  18:00 - 19:00 Uhr

Die Teilnahme am Genetalk ist kostenfrei.


Heiko Brennenstuhl

Genomic (R)Evolution in Newborn Screening: Tracing the Past, Shaping the Future

Alexandre Reymond

The history of newborn screening spans more than 60 years, originating with the development of a universal screening test for phenylketonuria by Robert Guthrie. Today, newborn screening is a highly effective tool for the early detection of various rare diseases that, if left undetected and untreated, can lead to a long diagnostic process, irreversible organ damage, physical and mental disabilities, diminished quality of life, and even premature death.

In this episode of GeneTalk, we will delve into the evolutionary trajectory of newborn screening, uncover significant milestones in its history, and highlight the profound impact of tandem mass spectrometry in the early 2000s that revolutionized disease detection capabilities.

Advances in molecular genetics, particularly the application of whole-genome sequencing (WGS) to analyze human DNA, now offer a novel approach to screening for treatable childhood genetic disorders, especially in cases where biochemical markers are absent. This allows for great flexibility in expanding disease panels, keeping pace with the ever-growing understanding of genetic disorder etiology, phenotypic diversity, pathophysiology, and the availability of mechanism-of-action therapies.

Despite its numerous advantages, the implementation of genomic newborn screening also presents significant challenges and raises unanswered questions concerning ethical, legal, social, and technical aspects. Engaging in public discourse regarding the possibilities and limitations of a genomic newborn screening program is therefore essential in fostering understanding and gaining widespread acceptance of such an approach.

Join us as we delve into the captivating history, remarkable advancements, and important considerations surrounding newborn screening. Through this exploration, we aim to shed light on the profound impact it has had on healthcare and the potential it holds for further enhancing early disease detection and intervention.

Vergangene Genetalks

gfh-genetalk-online 6..... 07.09.2022

Prof. Alexandre Reymond: 6p11.2/other CNVs spanning the spectrum of rare and common diseases/traits

Alexandre Reymond carried out his thesis in the laboratory of Dr. Viesturs Simanis at the Swiss Institute for Experimental Cancer Research (ISREC) and received his Ph.D. from the University of Lausanne in 1993. After completion of his postdoctoral training with Dr Roger Brent in the Department of Molecular Biology, Massachusetts General Hospital and in the Department of Genetics, Harvard Medical School in Boston, he moved to the Telethon Institute of Genetics and Medicine (TIGEM) in Milan in 1998 to lead a research group. He joined in 2000 the Department of Genetic Medicine and Development, University of Geneva Medical School. He moved to the Center for Integrative Genomics in October 2004 and became its Director in 2015. He is the President of the European Society of Human Genetics. 

Alexandre Reymond will give us an overview of his current research on 16p11.2/other CNVs spanning the spectrum of rare and common diseases/traits.

gfh-genetalk-online 5..... 15.12.2021

Prof. Dr. Fowzan S Alkuraya: Mendelian Hunt Gone Awry and What That Can Teach Us

Prof. Dr. Fowzan S Alkuraya is a professor of human genetics at Alfaisal University and a senior consultant and principal clinical scientist at King Faisal Specialist Hospital and Research Center, Riyadh. He did his MBBS at King Saud University and completed his pediatric residency at Georgetown University Hospital, followed by fellowships in clinical and molecular genetics at Harvard Medical School. His postdoctoral research focused on developmental genetics in the lab of Richard Maas at Harvard Medical School. The American Society of Human Genetics (ASHG) has named Fowzan Alkuraya as the 2020 recipient of the Curt Stern Award. He summarized his experience with pitfalls and lessons learned in the course of analyzing >5,600 families with different Mendelian phenotypes.

gfh-genetalk-online 4..... 21.7.2021  

Prof. Dr. rer. nat. Hildegard Büning: Gene Therapy – Status and Future Direction

As indicated by the 10 market approvals in the Western World, gene therapy has reached the clinical reality. Instead of treating symptoms, gene therapy offers the chance to cure a genetic disease by providing a function gene copy, by counteracting the activity of a malfunctioning gene or – with the advent of genome editing – by repairing the underlying genetic mutation. The range of applications was greatly expanded and currently encompass monogenetic diseases, cancer, and infectious diseases. Despite this success, the full potential of gene therapy has not been fully unlocked so far. Current challenges as well as strategies followed to tackle these challenges will be discussed.

gfh-genetalk-online 3..... 23.6.2021 

Prof. Dr. Jay Shendure: New Frontiers in Genetics and Genomics

Jay Shendure works on developing and applying novel methods in genetics and genomics. His work has had a tremendous influence on the field of human genetics through the development of Exom sequencing in 2009 and performing the first non-invasive fatal genome sequencing from cell-free DNA in 2012. Since then, his lab has pioneered the development of several new single-cell technologies.
The Shendure lab has developed a multiplex, expression quantitative trait locus (eQTL)-inspired framework for mapping enhancer-gene pairs by introducing random combinations of CRISPR/Cas9- mediated perturbations to each of many cells, followed by single-cell RNA sequencing (RNA-seq). The framework, termed crisprQTL, has enabled us to vastly increase the number of functionally supported enhancer-gene pairings, as well as to assess the background distribution of genomic distances between enhancers and the genes that they regulate.

gfh-genetalk-online 2..... 26.5.2021 

Prof. Dr. Mark Rubin: Understanding Lineage Plasticity as a Mechanism for Therapy Resistance using Prostate Cancer as a Model

Mark A. Rubin, MD, Professor, Principal Investigator, and Director of the Department for BioMedical Research (DBMR), University of Bern, Switzerland. Prof. Mark Rubin is a recognized world-renown leader in prostate cancer genomics and pathology, and precision medicine. Dr. Rubin’s laboratory led a series of landmark studies defining distinct molecular features of prostate cancer, revealing pathways that are perturbed and drive different types of this cancer. Furthermore, Prof. Rubin has translated many of his genomic discoveries into clinical tests that are currently patented and standardly used in the diagnosis and treatment of prostate cancer. Prof. Rubin founded the Englander Institute for Precision Medicine and, more recently, the Bern Center for Precision Medicine (BCPM).

gfh-genetalk-online 1 ..... 21.4.2021

Prof. Dr. Stefan Mundlos: Unraveling the secrets of the non-coding genome

Mit einem Vortrag von Prof. Dr. Stefan Mundlos, Berlin, eröffneten wir am 21.4.2021 (18:00-19:30) unsere neue Vortragsreihe "gfh-genetalks-online". Insgesamt nahmen 215 TeilnehmerInnen teil. Die Rückmeldungen waren absolut positiv: "Ganz toller Talk, auch didaktisch richtig gut aufbereitet, und faszinierender Mechanismus! Ich schwärme heute noch davon." "Das war prima, herzlichen Dank für die Organisation, auch zeitlich ideal und sehr gut organisiert mit dem ZOOM-Zugang." "Vielen Dank! Sehr gute Idee – und exzellente Umsetzung! "