Welcome to our Snapshot of Science for September 2024. Here's a quick look at some recent publications, press releases and stories about the Mass General Research Institute community.
In this issue, we highlight:
- 29 new studies published in high-impact journals
- 5 new research briefs
- 6 posts from the Mass General Research Institute blog
DNAJB1-PRKACA fusion drives fibrolamellar liver cancer through impaired SIK signaling and CRTC2/p300-mediated transcriptional reprogramming
Gritti I, Wan J, Weeresekara V, Vaz JM, Tarantino G [et al.], Bardeesy N
Published in Cancer Discovery on 9/27/2024 | Research Brief
Capmatinib in MET exon 14-mutated non-small-cell lung cancer: final results from the open-label, phase 2 GEOMETRY mono-1 trial
Wolf J, Hochmair M, Han JY, Reguart N, Souquet PJ [et al.], Heist RS
Published in Lancet Oncology on 10/1/2024
Ziftomenib in relapsed or refractory acute myeloid leukaemia (KOMET-001): a multicentre, open-label, multi-cohort, phase 1 trial
Wang ES, Issa GC, Erba HP, Altman JK, Montesinos P [et al.], Fathi AT
Published in Lancet Oncology on 10/1/2024
Decoding Patient Heterogeneity Influencing Radiation-Induced Brain Necrosis
Chamseddine I, Shah K, Lee H, Ehret F, Schuemann J [et al.], Paganetti H
Published in Clinical Cancer Research on 10/1/2024
Platelet integrin αIIbβ3 plays a key role in a venous thrombogenesis mouse model
Adair BD, Field CO, Alonso JL, Xiong JP, Deng SX [et al.], Arnaout MA
Published in Nature Communications on 10/4/2024
Amplifying mutational profiling of extracellular vesicle mRNA with SCOPE
Song J, Cho MH, Cho H, Song Y, Lee SW [et al.], Lee H
Published in Nature Biotechnology on 10/7/2024
Disruption of cellular plasticity by repeat RNAs in human pancreatic cancer
You E, Danaher P, Lu C, Sun S, Zou L [et al.], Ting DT
Published in Cell on 10/8/2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes
Huerta-Chagoya A, Schroeder P, Mandla R, Li J, Morris L [et al.], Mercader JM
Published in Nature Genetics on 10/8/2024
Detectability of Hypoattenuating Liver Lesions with Deep Learning CT Reconstruction: A Phantom and Patient Study
Cao J, Mroueh N, Mercaldo N, Lennartz S, Kongboonvijit S [et al.], Kambadakone AR
Published in Radiology on 10/8/2024
Diabetes Risk Factors in People With HIV Receiving Pitavastatin Versus Placebo for Cardiovascular Disease Prevention : A Randomized Trial
Fitch KV, Zanni MV, Manne-Goehler J, Diggs MR, Gattu AK [et al.], Grinspoon SK
Published in Annals of Internal Medicine on 10/8/2024 | Research Brief
Sex/gender effects of glial reactivity on preclinical Alzheimer's disease pathology
Vila-Castelar C, Akinci M, Palpatzis E, Aguilar-Dominguez P [et al.], Arenaza-Urquijo EM; ALFA study
Published in Molecular Psychiatry on 10/9/2024
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO [et al.], Williams DA
Published in New England Journal of Medicine on 10/10/2024 | Research Brief
Evaluating Debio 1347 in Patients with FGFR Fusion-Positive Advanced Solid Tumors from the FUZE Multicenter, Open-Label, Phase II Basket Trial
Grivas P, Garralda E, Meric-Bernstam F, Mellinghoff IK, Goyal L [et al.], Flaherty KT
Published in Clinical Cancer Research on 10/15/2024
High-fidelity PAMless base editing of hematopoietic stem cells to treat chronic granulomatous disease
Bzhilyanskaya V, Ma L, Liu S, Fox LR, Whittaker MN [et al.], De Ravin SS
Published in Science Translational Medicine on 10/16/2024 | Research Brief
Comparative Efficacy of Advanced Therapies for Management of Moderate-to-Severe Ulcerative Colitis: 2024 American Gastroenterological Association Evidence Synthesis
Ananthakrishnan AN, Murad MH, Scott FI, Agrawal M, Haydek JP [et al.], Singh S
Published in Gastroenterology on 10/18/2024
CD4 T cells restricted to DRB1*15:01 recognize two Epstein-Barr virus glycoproteins capable of intracellular antigen presentation
Drosu N, Anderson M, Bilodeau PA, Nishiyama S, Mikami T [et al.], Levy M
Published in PNAS on 10/21/2024
The hepcidin-ferroportin axis modulates liver endothelial cell BMP expression to influence iron homeostasis in mice
Fisher AL, Phillips S, Wang CY, Paulo JA, Xiao X [et al.], Babitt JL
Published in Blood on 10/22/2024
Phase 2 Study of Palbociclib in Patients with Tumors with CDK4 or CDK6 Amplification: Results from the NCI-MATCH ECOG-ACRIN Trial (EAY131) Sub-protocol Z1C
O'Hara MH, Jegede O, Dickson MA, DeMichele AM, Piekarz R [et al.], Flaherty KT
Published in Clinical Cancer Research on 10/22/2024
Socio-demographic and genetic risk factors for drug adherence and persistence across 5 common medication classes
Cordioli M, Corbetta A, Kariis HM, Jukarainen S, Vartiainen P [et al.], Ganna A
Published in Nature Communications on 10/23/2024
LLM-driven multimodal target volume contouring in radiation oncology
Oh Y, Park S, Byun HK, Cho Y, Lee IJ, Kim JS, Ye JC
Published in Nature Communications on 10/24/2024
A Translational Study of the ATR Inhibitor Berzosertib as Monotherapy in Four Molecularly Defined Cohorts of Advanced Solid Tumors
Cote GM, Kochupurakkal BS, Do K, Bullock A, Cheng ML [et al.], Shapiro GI
Published in Clinical Cancer Research on 10/25/2024
Germline DNA damage repair variants and prognosis of patients with high-risk or metastatic prostate cancer
Stopsack KH, Vijai J, Conry M, Berchuck JE, Kemel Y [et al.], Pomerantz MM
Published in Clinical Cancer Research on 10/25/2024
Highly neurogenic glia from human and mouse myenteric ganglia generate functional neurons following culture and transplantation into the gut
Mueller JL, Leavitt AR, Rahman AA, Han CY, Ott LC [et al.], Stavely R
Published in Cell Reports on 10/28/2024
Perturbation-specific transcriptional mapping for unbiased target elucidation of antibiotics
Romano KP, Bagnall J, Warrier T, Sullivan J, Ferrara K [et al.], Hung DT
Published in PNAS on 10/28/2024
Phase I/II Investigator-Initiated Study of Olaparib and Temozolomide in SCLC: Final Analysis and CNS Outcomes
Meador CB, Digumarthy SR, Yeap BY, Hung YP, Mino-Kenudson M [et al.], Piotrowska Z
Published in Clinical Cancer Research on 10/29/2024
Comparing Commercial and Open-Source Large Language Models for Labeling Chest Radiograph Reports
Dorfner FJ, Jürgensen L, Donle L, Al Mohamad F, Bodenmann TR [et al.], Bridge CP
Published in Radiology on 10/29/2024
Impact of Patient-reported Symptom Information on the Interpretation of MRI of the Lumbar Spine
Balza R, Mercaldo SF, Huang AJ, Husseini JS, Jarraya M [et al.], Palmer WE
Published in Radiology on 10/29/2024
Comparative effectiveness of sodium-glucose cotransporter-2 inhibitors for recurrent nephrolithiasis among patients with pre-existing nephrolithiasis or gout: target trial emulation studies
McCormick N, Yokose C, Lu N, Wexler DJ, Aviña-Zubieta JA, [et al.] Choi HK
Published in BMJ on 10/30/2024
Safety and tolerability of tegoprubart in patients with amyotrophic lateral sclerosis: A Phase 2A clinical trial
Perrin S, Ladha S, Maragakis N, Rivner MH, Katz J [et al.], Paganoni S
Published in PLoS Medicine on 10/31/2024
New Insights into a Rare Liver Cancer in Adolescents and Young Adults
Featuring Nabeel Bardeesy, PhD and Ilaria Gritti, PhD
Nabeel Bardeesy, PhD, an investigator in the Krantz Center for Cancer Research in the Mass General Cancer Center and a Professor of Medicine at Harvard Medical School, is senior author of a new study in Cancer Discovery, "DNAJB1-PRKACA Fusion Drives Fibrolamellar Liver Cancer Through Impaired SIK Signaling and CRTC2/p300-mediated Transcriptional Reprogramming", a collaboration with Taran Gujral at Fred Hutchinson Cancer Institute in Seattle. Ilaria Gritti, PhD, a research fellow in the Mass General Cancer Center, is first author of the study.
Mass General Investigators Identify Metabolic Risk Factors for New-Onset Diabetes Among People with HIV Using Data from Large, Global Trial
Featuring Steven Grinspoon, MD
Data from the REPRIEVE trial suggest there is only a minimal increased risk of diabetes with statins among people with HIV, and in specific, limited groups.
Gene Editing Approach Paves the Way to First-in-Human Clinical Trial for Rare Genetic Disease
Featuring Linyuan Ma, PhD and Benjamin Kleinstiver, PhD
A collaborative effort between investigators at the National Institutes of Health’s National Institute of Allergy and Infectious Diseases (NIAID) and Massachusetts General Hospital (MGH), demonstrates the potential of precise genome editing technologies, called adenine base editors, to correct disease-causing mutations in stem cells from patients with X-linked chronic granulomatous disease (X-CGD), a rare genetic disorder characterized by high susceptibility to infections.
Seizures Triggered by Low-Current Thalamic Stimulation in Mice
Featuring Francisco Flores, PhD and Emery Brown, MD, PhD
Francisco Flores, PhD, an investigator in the Department of Anesthesia, Critical Care and Pain Medicine at Massachusetts General Hospital an instructor in Anesthesia at Harvard Medical School, is lead author of a recently published paper in Brain Stimulation; "Electrographic Seizures During Low-Current Thalamic Deep Brain Stimulation in Mice". Emery Brown, MD, PhD, is senior author of the study.
Gene Therapy Shows Long-Term Benefit for Patients with a Rare Pediatric Brain Disease
Featuring Florian Eichler, MD
Clinical trial of 32 patients with cerebral adrenoleukodystrophy found that after six years most remained free of major disabilities
Through the Magnifying Glass: The Perfusion Lab
Featuring Shannon Tessier, PhD, Asishana Osho, MD, MPH, and Ali Rabi, MD, PhD!
The lab is a collaboration across the three Principal Investigators within the Department of Surgery that share one common goal: making more hearts available for transplantation.
One Scientist’s Unexpected Journey From Puerto Rico to Massachusetts General Hospital
Featuring Wilfredo Garcia-Beltran, MD, PhD
Too often, we focus so much on the destination that we overlook the beauty of the journey itself. In our pursuit of the end goal, we miss all the lessons we can learn along the way. The story of Wilfredo Garcia-Beltran, MD, PhD, reminds us that the journey itself holds some of the most valuable teaching moments. Holding on to these is critical, because before you know it, you’ll blink and find yourself going from a chemistry student in college to the principal investigator of your own lab at Massachusetts General Hospital, MIT and Harvard.
World Cancer Research Day: How MGH Research Scholars are Helping to Move the Field Forward
In honor of World Cancer Research Day, we are highlighting four MGH Research Scholars whose research focuses on developing treatments and innovative solutions for patients with cancer.
Mass General’s Jay Iyer: Turning Personal Loss into a Mission to Transform PSP Care
Featuring Jay Iyer
How a Personal Story Fueled a Researcher’s Passion to Pursue Breast Cancer Research
Featuring Matt Rosen, PhD
Welcome Our New Science Communication Intern, Ella Halpin!
Ella Halpin, a senior at Wheaton College, is the fall science communication intern at the Mass General Research Institute, where she will be helping with our social media and science communication efforts. Please join us in welcoming her to the team and wish her luck as a science communication intern!
About the Mass General Research Institute
Research at Massachusetts General Hospital is interwoven through more than 30 different departments, centers and institutes. Our research includes fundamental, lab-based science; clinical trials to test new drugs, devices and diagnostic tools; and community and population-based research to improve health outcomes across populations and eliminate disparities in care.
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