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Article ; Online: Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG's continuing journey to advance human genetics.

Korf, Bruce R / Lee, Brendan / Miller, Mona V

2023 Volume 110, Issue 3, Page(s) 371–372

Language	English
Publishing date	2023-03-03
Publishing country	United States
Document type	Editorial
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2023.02.007
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Article ; Online: The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research.

Radtke, Heather B / Klein-Tasman, Bonita P / Merker, Vanessa L / Knight, Pamela / Ullrich, Nicole J / Jordan, Justin T / Korf, Bruce / Plotkin, Scott R

Orphanet journal of rare diseases

2021 Volume 16, Issue 1, Page(s) 61

Abstract: Purpose: The coronavirus disease 2019 (COVID-19) pandemic has had unprecedented impact on the provision of medical care for genetic disorders. The purpose of this study was to assess the effects of the pandemic on neurofibromatosis (NF) care and ... ...

Abstract	Purpose: The coronavirus disease 2019 (COVID-19) pandemic has had unprecedented impact on the provision of medical care for genetic disorders. The purpose of this study was to assess the effects of the pandemic on neurofibromatosis (NF) care and research. Methods: Sixty-three United States NF clinics were surveyed to identify the impact of the pandemic on clinician role, patient volume, continuity of guideline-driven surveillance, research protocols, and use of (and satisfaction with) telehealth for the delivery of NF care. Results: Fifty-two clinic directors or their representatives completed the survey (83% response rate). About 2/3 of the clinics reported a greater than 50% decrease in the number of available patient appointments, and modified clinical surveillance and research protocols. Fifty-one clinics (98%) newly instituted telehealth during the pandemic. Barriers to telehealth prior to the pandemic were insurance reimbursement concerns and lack of infrastructure. Since telehealth was initiated, high provider satisfaction was reported with ease of use. The most common area of concern was related to inability to perform a physical examination. Conclusion: Results show marked impacts on NF care and research since the beginning of the pandemic, with potential long-term changes related to the introduction (or adoption) of telehealth for clinical care.
MeSH term(s)	COVID-19/epidemiology ; Humans ; Neurofibromatoses/epidemiology ; Pandemics/statistics & numerical data ; Patient Satisfaction ; Rare Diseases ; SARS-CoV-2/pathogenicity ; Telemedicine/methods ; United States
Language	English
Publishing date	2021-02-01
Publishing country	England
Document type	Letter
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-021-01711-w
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Article ; Online: Multicenter, prospective, phase II study of maintenance bevacizumab for children and adults with NF2-related schwannomatosis and progressive vestibular schwannoma.

Plotkin, Scott R / Allen, Jeffrey / Dhall, Girish / Campian, Jian L / Clapp, D Wade / Fisher, Michael J / Jain, Rakesh K / Tonsgard, James / Ullrich, Nicole J / Thomas, Coretta / Edwards, Lloyd J / Korf, Bruce / Packer, Roger / Karajannis, Matthias A / Blakeley, Jaishri O

Neuro-oncology

2024 Volume 25, Issue 8, Page(s) 1498–1506

Abstract: Background: Prospective data on maintenance therapy with bevacizumab for persons with NF2-related schwannomatosis (NF2-SWN) is lacking. In this prospective multicenter phase II study, we evaluated the efficacy, safety, and tolerability of bevacizumab ... ...

Abstract	Background: Prospective data on maintenance therapy with bevacizumab for persons with NF2-related schwannomatosis (NF2-SWN) is lacking. In this prospective multicenter phase II study, we evaluated the efficacy, safety, and tolerability of bevacizumab for maintenance therapy in children and adults with NF2-SWN and hearing loss due to vestibular schwannomas (VS). Methods: Following induction therapy, participants received bevacizumab 5 mg/kg every 3 weeks for 18 months. Participants were monitored for changes in hearing, tumor size, and quality of life (QOL), and for adverse events. Hearing loss was defined as a statistically significant decline in word recognition score (WRS) or pure-tone average compared to the study baseline; tumor growth was defined as >20% increase in volume compared to baseline. Results: Twenty participants with NF2-SWN (median age 23.5 years; range, 12.5-62.5 years) with hearing loss in the target ear (median WRS 70%, range 2%-94%) received maintenance bevacizumab. Freedom from hearing loss in the target ear was 95% after 48 weeks, 89% after 72 weeks, and 70% after 98 weeks. Freedom from tumor growth in the target VS was 94% after 48 weeks, 89% after 72 weeks, and 89% after 98 weeks. NF2-related QOL remained stable for 98 weeks whereas tinnitus-related distress decreased. Maintenance bevacizumab was well tolerated, with 3 participants (15%) discontinuing treatment due to adverse events. Conclusions: Maintenance bevacizumab (5 mg/kg every 3 weeks) is associated with high rates of hearing and tumor stability during 18 months of follow-up. No new unexpected adverse events related to bevacizumab were identified in this population.
MeSH term(s)	Adult ; Child ; Humans ; Young Adult ; Neuroma, Acoustic/complications ; Neuroma, Acoustic/drug therapy ; Neuroma, Acoustic/pathology ; Bevacizumab/therapeutic use ; Quality of Life ; Prospective Studies ; Treatment Outcome ; Neurofibromatosis 2/complications ; Neurofibromatosis 2/drug therapy ; Hearing Loss/chemically induced
Chemical Substances	Bevacizumab (2S9ZZM9Q9V)
Language	English
Publishing date	2024-04-16
Publishing country	England
Document type	Clinical Trial, Phase II ; Multicenter Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2028601-6
ISSN	1523-5866 ; 1522-8517
ISSN (online)	1523-5866
ISSN	1522-8517
DOI	10.1093/neuonc/noad066
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Article ; Online: Comparison of the single-cell and single-nucleus hepatic myeloid landscape within decompensated cirrhosis patients.

Van Melkebeke, Lukas / Verbeek, Jef / Bihary, Dora / Boesch, Markus / Boeckx, Bram / Feio-Azevedo, Rita / Smets, Lena / Wallays, Marie / Claus, Eveline / Bonne, Lawrence / Maleux, Geert / Govaere, Olivier / Korf, Hannelie / Lambrechts, Diether / van der Merwe, Schalk

Frontiers in immunology

2024 Volume 15, Page(s) 1346520

Abstract: Background and aims: A complete understanding of disease pathophysiology in advanced liver disease is hampered by the challenges posed by clinical specimen collection. Notably, in these patients, a transjugular liver biopsy (TJB) is the only safe way to ...

Abstract	Background and aims: A complete understanding of disease pathophysiology in advanced liver disease is hampered by the challenges posed by clinical specimen collection. Notably, in these patients, a transjugular liver biopsy (TJB) is the only safe way to obtain liver tissue. However, it remains unclear whether successful sequencing of this extremely small and fragile tissue can be achieved for downstream characterization of the hepatic landscape. Methods: Here we leveraged in-house available single-cell RNA-sequencing (scRNA-seq) and single-nucleus (snRNA-seq) technologies and accompanying tissue processing protocols and performed an in-patient comparison on TJB's from decompensated cirrhosis patients (n = 3). Results: We confirmed a high concordance between nuclear and whole cell transcriptomes and captured 31,410 single nuclei and 6,152 single cells, respectively. The two platforms revealed similar diversity since all 8 major cell types could be identified, albeit with different cellular proportions thereof. Most importantly, hepatocytes were most abundant in snRNA-seq, while lymphocyte frequencies were elevated in scRNA-seq. We next focused our attention on hepatic myeloid cells due to their key role in injury and repair during chronic liver disease. Comparison of their transcriptional signatures indicated that these were largely overlapping between the two platforms. However, the scRNA-seq platform failed to recover sufficient Kupffer cell numbers, and other monocytes/macrophages featured elevated expression of stress-related parameters. Conclusion: Our results indicate that single-nucleus transcriptome sequencing provides an effective means to overcome complications associated with clinical specimen collection and could sufficiently profile all major hepatic cell types including all myeloid cell subsets.
MeSH term(s)	Humans ; Gene Expression Profiling/methods ; Sequence Analysis, RNA/methods ; High-Throughput Nucleotide Sequencing/methods ; RNA, Small Nuclear ; Liver Diseases ; Liver Cirrhosis/genetics
Chemical Substances	RNA, Small Nuclear
Language	English
Publishing date	2024-02-06
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2024.1346520
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Article ; Online: Gene-targeted therapy for neurofibromatosis and schwannomatosis: The path to clinical trials.

Staedtke, Verena / Anstett, Kara / Bedwell, David / Giovannini, Marco / Keeling, Kim / Kesterson, Robert / Kim, YooRi / Korf, Bruce / Leier, André / McManus, Miranda L / Sarnoff, Herb / Vitte, Jeremie / Walker, James A / Plotkin, Scott R / Wallis, Deeann

Clinical trials (London, England)

2023 Volume 21, Issue 1, Page(s) 51–66

Abstract: Numerous successful gene-targeted therapies are arising for the treatment of a variety of rare diseases. At the same time, current treatment options for neurofibromatosis 1 and schwannomatosis are limited and do not directly address loss of gene/protein ... ...

Abstract	Numerous successful gene-targeted therapies are arising for the treatment of a variety of rare diseases. At the same time, current treatment options for neurofibromatosis 1 and schwannomatosis are limited and do not directly address loss of gene/protein function. In addition, treatments have mostly focused on symptomatic tumors, but have failed to address multisystem involvement in these conditions. Gene-targeted therapies hold promise to address these limitations. However, despite intense interest over decades, multiple preclinical and clinical issues need to be resolved before they become a reality. The optimal approaches to gene-, mRNA-, or protein restoration and to delivery to the appropriate cell types remain elusive. Preclinical models that recapitulate manifestations of neurofibromatosis 1 and schwannomatosis need to be refined. The development of validated assays for measuring neurofibromin and merlin activity in animal and human tissues will be critical for early-stage trials, as will the selection of appropriate patients, based on their individual genotypes and risk/benefit balance. Once the safety of gene-targeted therapy for symptomatic tumors has been established, the possibility of addressing a wide range of symptoms, including non-tumor manifestations, should be explored. As preclinical efforts are underway, it will be essential to educate both clinicians and those affected by neurofibromatosis 1/schwannomatosis about the risks and benefits of gene-targeted therapy for these conditions.
MeSH term(s)	Animals ; Humans ; Neurofibromatosis 1/genetics ; Neurofibromatosis 1/therapy ; Neurofibromatosis 2/diagnosis ; Neurofibromatosis 2/genetics ; Neurofibromatosis 2/pathology ; Neurofibromatoses/genetics ; Neurofibromatoses/therapy ; Neurofibromatoses/diagnosis ; Neurilemmoma/genetics ; Neurilemmoma/therapy ; Neurilemmoma/diagnosis ; Skin Neoplasms
Language	English
Publishing date	2023-11-08
Publishing country	England
Document type	Journal Article ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, N.I.H., Extramural
ZDB-ID	2138796-5
ISSN	1740-7753 ; 1740-7745
ISSN (online)	1740-7753
ISSN	1740-7745
DOI	10.1177/17407745231207970
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Article ; Online: Repetitive Exposure to Bacteriophage Cocktails against

Weissfuss, Chantal / Wienhold, Sandra-Maria / Bürkle, Magdalena / Gaborieau, Baptiste / Bushe, Judith / Behrendt, Ulrike / Bischoff, Romina / Korf, Imke H E / Wienecke, Sarah / Dannheim, Antonia / Ziehr, Holger / Rohde, Christine / Gruber, Achim D / Ricard, Jean-Damien / Debarbieux, Laurent / Witzenrath, Martin / Nouailles, Geraldine

Viruses

2023 Volume 15, Issue 2

Abstract: Phage therapy of ventilator-associated pneumonia (VAP) is of great interest due to the rising incidence of multidrug-resistant bacterial pathogens. However, natural or therapy-induced immunity against therapeutic phages remains a potential concern. In ... ...

Abstract	Phage therapy of ventilator-associated pneumonia (VAP) is of great interest due to the rising incidence of multidrug-resistant bacterial pathogens. However, natural or therapy-induced immunity against therapeutic phages remains a potential concern. In this study, we investigated the innate and adaptive immune responses to two different phage cocktails targeting either
MeSH term(s)	Animals ; Mice ; Mice, Inbred C57BL ; Immunity, Humoral ; Pseudomonas aeruginosa ; Bacteriophages ; Escherichia coli
Language	English
Publishing date	2023-01-29
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2516098-9
ISSN	1999-4915 ; 1999-4915
ISSN (online)	1999-4915
ISSN	1999-4915
DOI	10.3390/v15020387
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Article: Genetic testing and medical practice.

Korf, B R

Current opinion in pediatrics

2001 Volume 13, Issue 6, Page(s) 547–549

MeSH term(s)	Genetic Testing ; Humans ; Internet
Language	English
Publishing date	2001-12
Publishing country	United States
Document type	Editorial
ZDB-ID	1049374-8
ISSN	1531-698X ; 1040-8703
ISSN (online)	1531-698X
ISSN	1040-8703
DOI	10.1097/00008480-200112000-00009
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Article ; Online: Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Bowling, Kevin M / Thompson, Michelle L / Kelly, Melissa A / Scollon, Sarah / Slavotinek, Anne M / Powell, Bradford C / Kirmse, Brian M / Hendon, Laura G / Brothers, Kyle B / Korf, Bruce R / Cooper, Gregory M / Greally, John M / Hurst, Anna C E

Genome medicine

2022 Volume 14, Issue 1, Page(s) 131

Abstract: Background: The uptake of exome/genome sequencing has introduced unexpected testing results (incidental findings) that have become a major challenge for both testing laboratories and providers. While the American College of Medical Genetics and Genomics ...

Abstract	Background: The uptake of exome/genome sequencing has introduced unexpected testing results (incidental findings) that have become a major challenge for both testing laboratories and providers. While the American College of Medical Genetics and Genomics has outlined guidelines for laboratory management of clinically actionable secondary findings, debate remains as to whether incidental findings should be returned to patients, especially those representing pediatric populations. Methods: The Sequencing Analysis and Diagnostic Yield working group in the Clinical Sequencing Evidence-Generating Research Consortium has collected a cohort of pediatric patients found to harbor a genomic sequencing-identified non-ACMG-recommended incidental finding. The incidental variants were not thought to be associated with the indication for testing and were disclosed to patients and families. Results: In total, 23 "non-ACMG-recommended incidental findings were identified in 21 pediatric patients included in the study. These findings span four different research studies/laboratories and demonstrate differences in incidental finding return rate across study sites. We summarize specific cases to highlight core considerations that surround identification and return of incidental findings (uncertainty of disease onset, disease severity, age of onset, clinical actionability, and personal utility), and suggest that interpretation of incidental findings in pediatric patients can be difficult given evolving phenotypes. Furthermore, return of incidental findings can benefit patients and providers, but do present challenges. Conclusions: While there may be considerable benefit to return of incidental genetic findings, these findings can be burdensome to providers and present risk to patients. It is important that laboratories conducting genomic testing establish internal guidelines in anticipation of detection. Moreover, cross-laboratory guidelines may aid in reducing the potential for policy heterogeneity across laboratories as it relates to incidental finding detection and return. However, future discussion is required to determine whether cohesive guidelines or policy statements are warranted.
MeSH term(s)	Humans ; United States ; Genome, Human ; Chromosome Mapping ; Base Sequence ; Exome ; Genomics
Language	English
Publishing date	2022-11-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2484394-5
ISSN	1756-994X ; 1756-994X
ISSN (online)	1756-994X
ISSN	1756-994X
DOI	10.1186/s13073-022-01139-2
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Book: Human genetics and genomics

Korf, Bruce R / Irons, Mira B

2013

Author's details	Bruce R. Korf, Mira B. Irons
MeSH term(s)	Genetics, Medical ; Genomics ; Genetic Diseases, Inborn ; Problem-Based Learning
Language	English
Size	x, 269 p. :, ill.
Edition	4th ed.
Publisher	John Wiley & Sons
Publishing place	Chichester, West Sussex, UK
Document type	Book
ISBN	9780470654477 ; 0470654473
Database	Catalogue of the US National Library of Medicine (NLM)

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Article: Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting.

East, Kelly M / Cochran, Meagan E / Kelley, Whitley V / Greve, Veronica / Finnila, Candice R / Coleman, Tanner / Jennings, Mikayla / Alexander, Latonya / Rahn, Elizabeth J / Danila, Maria I / Barsh, Greg / Korf, Bruce / Cooper, Greg

Journal of personalized medicine

2022 Volume 12, Issue 3

Abstract: To meet current and expected future demand for genome sequencing in the neonatal intensive care unit (NICU), adjustments to traditional service delivery models are necessary. Effective programs for the training of non-genetics providers (NGPs) may ... ...

Abstract	To meet current and expected future demand for genome sequencing in the neonatal intensive care unit (NICU), adjustments to traditional service delivery models are necessary. Effective programs for the training of non-genetics providers (NGPs) may address the known barriers to providing genetic services including limited genetics knowledge and lack of confidence. The SouthSeq project aims to use genome sequencing to make genomic diagnoses in the neonatal period and evaluate a scalable approach to delivering genome sequencing results to populations with limited access to genetics professionals. Thirty-three SouthSeq NGPs participated in a live, interactive training intervention and completed surveys before and after participation. Here, we describe the protocol for the provider training intervention utilized in the SouthSeq study and the associated impact on NGP knowledge and confidence in reviewing, interpreting, and using genome sequencing results. Participation in the live training intervention led to an increased level of confidence in critical skills needed for real-world implementation of genome sequencing. Providers reported a significant increase in confidence level in their ability to review, understand, and use genome sequencing result reports to guide patient care. Reported barriers to implementation of genome sequencing in a NICU setting included test cost, lack of insurance coverage, and turn around time. As implementation of genome sequencing in this setting progresses, effective education of NGPs is critical to provide access to high-quality and timely genomic medicine care.
Language	English
Publishing date	2022-03-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662248-8
ISSN	2075-4426
ISSN	2075-4426
DOI	10.3390/jpm12030405
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