Author: Özdemir, Pınar Gökmirza ; Goda, Vera ; Aydoğmuş, Çiğdem ; Miller, Rahim ; Belevtsev, Mikhail ; Walter, Jolan ; Polyakova, Ekaterina ; Abolhassani, Hassan ; Notarangelo, Luigi ; Pac, Malgorzata ; Geier, Christoph ; Rezaei, Nima ; Delavari, Samaneh ; Vakhlyarskaya, Svetlana ; Serdar, Al ; Tkemaladze, Tinatin ; Kondratenko, Irina ; Sakovich, Inga ; Baris, Safa ; Kiykim, Ayca ; Sharapova, Svetlana ; Gennery, Andrew ; Kvilividze, Oleg ; Leiss-Piller, Alexander ; Dąbrowska-Leonik, Nel ; Tsekhanovich, Dmitry ; Guryanova, Irina ; Pashchenko, Olga ; Aleshkevich, Svetlana

Background and AimsJanus kinase-3 (JAK3) deficiency, first described in 1995, is an autosomal recessive inborn error of immunity that mostly results in variants of severe combined immunodeficiency (SCID). The frequency is estimated to account for 7-14% of heritable SCID, with sporadic cases in the Western world. Neither preferential “hot spots” nor founder effects have yet been documented. Hereby, we aim to describe the global experience of JAK3-related diseases regarding clinical spectrum, genetic landscape, including founder variants and treatment strategies.MethodsWe extracted clinical, genetic, and immunological data from published cases on patients with СID/SCID phenotype caused by defects in the JAK3 gene. The literature search included unpublished cases from collaborators, reports from meetings of the European Society for Immunodeficiencies (ESID), of the Clinical Immunology Society (CIS), and published data in the biomedical research search engine (PubMed) from 1995 to 2024.ResultsOur cohort includes 132 patients with 47 unique genetic defects, including 35 novel variants (18 homozygous, 17 heterozygous). The patients were from 5 continents with majority of Asian ancestry. Country of diagnosis included North America (USA [n = 42]); South America (Brazil [n = 3]); Europe (Turkey [n = 8], Hungary [n = 1], Poland [n = 6], UK [n = 5], Italy [n = 5], Israel [n = 4], Belarus [n = 4], Russian Federation [n = 3], Georgia [n = 3], Spain [n = 1], Germany [n = 1]); Asia (India [n = 16], Iran [n = 6],China [n = 4], Pakistan [n = 1], Japan [n = 1]); and Africa (Egypt [n = 16], Saudi Arabia [n = 1], Sudan [n = 1]). Forty-five (35%) of patients from the cohort were born to consanguineous parents in 31 families from Georgia (n = 3, 1-family), Russian Federation (n = 3/2-family), Sudan (n = 1), Turkey (n = 8, 5-family), Israel (n = 4, 2-family), India (n = 3, 2-family), Egypt(n = 13, 8-family), UK (n = 5, 4-family), China (n = 1), Brazil (n = 1), Spain (n = 1), Italy (n = 1), Pakistan (n = 1), and Saudi (n = 1). 13 novel founder variants are identified. The same founder variant was seen in several countries. The majority of genetic defects were homozygous (68%); 40/132 compound were heterozygous, and 2 patients had germline heterozygous gain-of-function. The variants occurred across the entire JAK3 gene with no hotspots. Only 6 (5%) of 132 cases developed Omenn syndrome. 61 patients were transplanted, 17 died at the age of 9 months (mean age 9-18 months), and 44 are alive.ConclusionsWe describe for the first time a global cohort of JAK3 with 132 patients with founder effects in a subgroup. Patients were identified in four continents but are most common in countries with a high rate of consanguinity. Founder effect was identified in 14 regions.

01 Apr 2025·The Breast

Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative

Article

Author: Locher, Melanie ; Schulze, Martin ; Biskup, Saskia ; Glaubitz, Ralf ; Wohlfrom, Tobias ; Holinski-Feder, Elke ; Steinke-Lange, Verena ; Laner, Andreas ; Teubert, Anna ; Becker, Kerstin ; Steinberger, Daniela ; Neuhann, Teresa ; Henkel, Jan ; Heinrich, Sarah ; Holtorf, Anne ; Neitzel, Birgit ; Berner, Daniel ; Schmidt, Winfried ; von der Heyden, Laura ; Wildhardt, Gabriele ; Eichhorn, Birgit ; Hörtnagel, Konstanze ; Klink, Barbara ; Abicht, Angela ; Lorenz, Peter ; Kleier, Saskia

As multigene panel testing is becoming routine in clinical care, there are recommendations at national and international level, as to which genes should be analyzed in the context of a hereditary breast and ovarian cancer (HBOC). However, the individual composition of gene panels offered by testing laboratories vary, resulting in a different variant diagnostic rate. Therefore, we performed a retrospective NGS dataset analysis of suspected HBOC patients who had been tested at different German diagnostic laboratories that are part of the NASGE network. We collected 29,317 HBOC datasets and compared the diagnostic yield applying the most common panel recommendations and an internal HBOC gene panel. Additionally, we analyzed the data concerning other potential tumor risk syndromes (TRS) not caused by pathogenic variants in the core panel genes. At least one pathogenic variant causative for an autosomal-dominant TRS was identified in 4235 datasets, resulting in an overall diagnostic yield of 14.4 %. The diagnostic yield of pathogenic variants varied depending on the applied HBOC panel (between 5 and 26 genes) from 9.0 % to 13.8 % with the internal HBOC panel having a yield of 12.7 %. Notably, in about 1 % of cases, a pathogenic variant outside the established HBOC core genes was identified, indicating the presence of other TRS. These results are consistent with previous observations that a significant proportion of patients with HBOC predisposition were not detected by the guideline-based gene panels and suggest that expanded diagnostics compared to currently recommended multigene panels may identify additional patients at high risk for developing cancer.

02 Jan 2025·Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

SOD1 gene screening in ALS – frequency of mutations, patients’ attitudes to genetic information and transition to tofersen treatment in a multi-center program

Article

Author: Norden, Jenny ; Vidovic, Maximilian ; Metelmann, Moritz ; Walter, Bertram ; Baum, Petra ; Münch, Christoph ; Spittel, Susanne ; Weishaupt, Jochen H. ; Bernsen, Sarah ; Schumann, Peggy ; Petri, Susanne ; Kasper, David C. ; Schmitt, Philipp ; Koc, Yasemin ; Kettemann, Dagmar ; Grosskreutz, Julian ; Weyen, Ute ; Körtvélyessy, Péter ; Meyer, Thomas ; Streubel, Berthold ; Wolf, Joachim ; Steinbach, Robert ; Maier, André ; Grehl, Torsten ; Weydt, Patrick ; Rödiger, Annekathrin ; Günther, René

OBJECTIVETo report the frequency of pathogenic SOD1 gene variants in a screening program in amyotrophic lateral sclerosis (ALS), and the clinical practice of transition to an expanded access program (EAP) of tofersen treatment.METHODSFrom October 2021 to February 2024, at 11 ALS centers in Germany genetic testing for SOD1, FUS, TARDBP, and C9orf72 was performed. Patients were offered to opt for notification either about all genetic variants or SOD1 variants relevant for tofersen therapy. The transition to the EAP with tofersen was assessed.RESULTS1935 patients were screened (94.7% sporadic ALS). 48.8% (n = 928) opted for notification of treatment-relevant information. Genetic variants were found as follows: SOD1 (likely) pathogenic variants (class 4/5) 1.8% (n = 34), variants of unknown significance (class 3) 0.8% (n = 16), FUS (class 4/5) 0.9% (n = 17), TARDBP (class 4/5) 1.3% (n = 25), C9orf72 hexanucleotide repeat expansion 7.0% (n = 135). In SOD1-ALS (encompassing class 3-5 variants, n = 50), 68.0% (n = 34) reported a negative family history. 74.0% (n = 37) of SOD1-ALS patients - which represent 1.9% of all participants of the screening program - were transitioned to tofersen. Median duration from start of genetic testing to treatment was 94 days (57 to 295 days). Eight patients declined treatment whereas five individuals died before initiation of therapy.CONCLUSIONThe finding of SOD1 variants in patients with a negative family history underscores the need for a broad genetic screening in ALS. In SOD1-ALS, the treatment option with tofersen was mostly utilized. The wide range in the transition time to tofersen calls for a SOD1-ALS management program.

News (Medical) associated with amedes Holding GmbH

24 Aug 2023

·www.biospace.com

RedShift BioAnalytics Announces Distribution Agreement with Flownamics for The Director™ Liquid Handler.

The recently launched HaLCon Analyzer from RedShiftBio and the Flownamics Director are perfectly suited to jointly deliver HPLC-quality protein titer for bioprocessing with even greater efficiency and throughput. BOXBOROUGH, Mass., Aug. 24, 2023 /PRNewswire/ -- RedShift BioAnalytics (RedShiftBio®) today announced that it has signed a global distribution agreement with Flownamics for the Director™ Sample Distribution System. The Director™ from Flownamics is the first-of-its-kind liquid handler optimized for bioprocessing and cell line development. This system eliminates the need for a technician to prepare and load samples onto multiple analytical devices. It captures the data and sends it to a LIMS or process control system, streamlining process monitoring and data management. The HaLCon Analyzer, from RedShiftBio, is a cutting-edge purpose-built liquid chromatography system that provides real-time protein titer measurements from a cell-free bioreactor sample. HaLCon is designed to provide protein titer results equivalent to traditional protein A, HPLC but features a sample-to-answer time of less than five minutes and requires no chromatography expertise to operate. The global distribution agreement is effective immediately. Under the terms of the agreement, RedShiftBio will sell the Director Sample Distribution System to facilitate high throughput process development applications and walkaway automation on the HaLCon Analyzer. The company is making The Director available for shipment immediately in North America, Europe, and Asia. "Combining the Director and HaLCon makes it possible to monitor titer from any size reactor in real-time from Research through Cell Line Development and Process Development, said Julien Bradley, CEO of RedShiftBio. "It automates the sample handling and increases the walkaway time providing greater efficiency for customers with higher throughput needs."  Protein titer measurements are a key parameter to monitor bioreactor optimization but until now, obtaining concentration measurements has required sending samples for analysis by HPLC, often requiring many hours or even days before results are returned. Through the integration of HaLCon and Director, users can obtain extremely accurate titer measurements of batched samples in minutes, generating actionable results and optimizing the utilization of the bioreactors. This allows for more efficient use of resources and can lead to significant cost savings. For more information, please visit About RedShift BioAnalytics RedShiftBio® is a forward-thinking technology company providing novel life science analytical platforms, reagents, software, and services to leading biopharmaceutical companies and research laboratories. The company has developed a powerful new analytical technique, Microfluidic Modulation Spectroscopy (MMS), that provides in-depth biomolecule structural information in a single automated analysis. RedShiftBio also offers the HaLCon Analyzer, a fit-for-purpose protein analyzer designed to provide easy and accurate protein titer measurements at the point of need. RedShiftBio is headquartered in Boxborough, Massachusetts. About Flownamics Flownamics® is the leader in online sampling for the bioprocess industry and specializes in the design of innovative and unique, high-quality, and easy-to-operate products for bioprocess development and automation. Flownamics strives to understand customers' needs while providing outstanding service, support, and customized solutions. For further information, please contact: Marisa Pisani, mpisani@redshiftbio.com

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