Sara P Garcia

Department of Chemistry and Biochemistry, The Ohio State University, Columbus, Ohio 43210, United States.

49 publications 2013 – 2025 ORCID

What does Sara P Garcia research?

Sara P Garcia studies advanced gene editing techniques, particularly how to effectively deliver CRISPR therapies to target specific diseases. She has researched new methods to enhance the delivery of CRISPR to the liver, benefiting patients with conditions like familial hypercholesterolemia, who often have limited treatment options. Additionally, she investigates childhood cancers, uncovering the origins and characteristics of rhabdomyosarcoma, a muscle cancer, to better understand how to combat it.

Key findings

  • Increased liver editing efficiency from 5% to 61% using modified nanoparticles, leading to cholesterol reductions of up to 89% in monkeys after six months.
  • Monkeys experienced a 60% drop in cholesterol levels for at least eight months after a single CRISPR base editing intervention.
  • Identified specific cancer cells that drive the spread of rhabdomyosarcoma, highlighting their behavior as early-stage progenitor cells.

Frequently asked questions

Does Dr. Garcia study genetic diseases?
Yes, she focuses on CRISPR gene editing to treat various genetic disorders, particularly those affecting cholesterol levels.
What treatments has Dr. Garcia researched?
She has researched CRISPR therapies for liver diseases and cancer treatments for rhabdomyosarcoma.
Is Dr. Garcia's work relevant to heart disease patients?
Absolutely. Her research on gene editing has the potential to provide a one-time treatment option for heart disease patients, reducing the need for lifelong cholesterol medication.
What does Dr. Garcia's research mean for cancer treatment?
Her studies on rhabdomyosarcoma help identify the origins of the cancer and the specific cells that spread it, which could lead to more targeted and effective treatments.
Can CRISPR therapies be delivered safely?
Dr. Garcia's research has shown that modified delivery methods can safely enhance the effectiveness of CRISPR therapies, ensuring better outcomes for patients.

Publications in plain English

Effects of exercise training and physical activity advice on HbA1c in people with type 2 diabetes: A network meta-analysis of randomized controlled trials.

2025

Diabetes research and clinical practice

Garcia SP, Cureau FV, Iorra FQ, Bottino LG, R C Monteiro LE +3 more

Plain English
This study looked at how different types of exercise affect blood sugar control in people with type 2 diabetes. It found that high-intensity interval training (HIIT) was the most effective, reducing blood sugar levels by an average of 0.61%, followed closely by combined training (0.58%) and aerobic training (0.58%). Even just giving advice about physical activity led to a reduction of 0.35%, showing that any exercise can help manage diabetes effectively. Who this helps: This information benefits patients with type 2 diabetes and their healthcare providers.

PubMed

Dual Functionality of 2,2'-Bibenzothiazole in Organic Photocatalysis.

2025

Inorganic chemistry

Bashar N, Kundu BK, Han G, Garcia SP, Krause JA +2 more

Plain English
This study looked at a new compound called 2,2'-bibenzothiazole (dBZ) that can perform two functions in chemical reactions using light, making it a simpler and cheaper alternative to existing methods. The research found that dBZ can independently drive several important chemical reactions and, when used with nickel acetate, can successfully carry out challenging reactions without needing extra stabilizing agents. This is significant because it makes chemical processes more efficient and cost-effective. Who this helps: This benefits chemists and researchers developing new reactions in organic chemistry.

PubMed

Cytochrome P450 Induction through the Efficient Photoinduced Release of a Pyridine-Substituted Agent from Ru(II).

2025

Journal of the American Chemical Society

Hummel K, Gupta S, Marques Silva A, Garcia SP, Odhiambo DH +7 more

Plain English
This study looks at a new method for activating important enzymes in the body called cytochrome P450 (CYP) using light. The researchers successfully triggered the CYP1A1 enzyme with visible light by releasing a specific molecule from a Ru(II) compound, showing a quantum yield of 0.16, which indicates efficiency in this process. This finding is significant because it could lead to better targeted therapies and drugs that work more effectively with less side effects. Who this helps: Patients who require more precise and effective treatments.

PubMed

Positional Tuning of Ether-Substituted NIR Donor-Acceptor-Donor Fluorophores.

2025

The journal of physical chemistry. A

Ghazala M, Garcia SP, Sheldon CFL, Moaven S, Turro C +1 more

Plain English
This study examined how changing the position of certain chemical groups affects the performance of specially designed dyes that emit near-infrared light. The researchers found that altering the position of these groups made significant differences: one specific setup emitted light at 907 nanometers, while another emitted at 888 nanometers, with some structures being brighter and more stable than others. This matters because improving these dyes could make them better for use in medical imaging, helping to visualize biological processes more effectively. Who this helps: This helps patients and doctors by improving tools for medical imaging.

PubMed

Ruthenium-Cathepsin Inhibitor Conjugates for Green Light-Activated Photodynamic Therapy and Photochemotherapy.

2024

Inorganic chemistry

Denison M, Garcia SP, Ullrich A, Podgorski I, Gibson H +2 more

Plain English
This study explored a new cancer treatment that combines a special drug that inhibits a protein called cathepsin with a compound that is activated by green light. Researchers created this dual-action agent and found that it can effectively kill cancer cells when exposed to green light while minimizing damage to other cells in the dark. This method is particularly promising because it shows strong potential for treating triple-negative breast cancer, which is often difficult to manage. Who this helps: This benefits cancer patients, particularly those with triple-negative breast cancer.

PubMed

Ketoconazole as second-line treatment for Cushing's disease after transsphenoidal surgery: systematic review and meta-analysis.

2023

Frontiers in endocrinology

Viecceli C, Mattos ACV, Hirakata VN, Garcia SP, Rodrigues TDC +1 more

Plain English
This study looked at the effectiveness of ketoconazole as a secondary treatment for patients with Cushing's disease who did not fully respond to pituitary surgery. Out of 270 patients analyzed, 63% achieved control of their high cortisol levels with ketoconazole, while 20% did not experience any control. This is important because it confirms that ketoconazole can be a safe and effective option for managing Cushing's disease after surgery. Who this helps: This benefits patients with Cushing's disease who need additional treatment after surgery.

PubMed

Posterior Mediastinum Plasmocytoma: An Infrequent Location.

2023

Open respiratory archives

Rodríguez Perojo A, Raboso Moreno B, García SP, Somolinos De Marcos MN, Gil Alcalde M +1 more

PubMed

GalNAc-Lipid nanoparticles enable non-LDLR dependent hepatic delivery of a CRISPR base editing therapy.

2023

Nature communications

Kasiewicz LN, Biswas S, Beach A, Ren H, Dutta C +13 more

Plain English
This study focused on a new way to deliver a CRISPR therapy to the liver using special nanoparticles that don't rely on a common receptor that some patients lack. The researchers found that by modifying these nanoparticles, they could increase liver editing from 5% to 61% in certain monkeys, and this treatment led to a significant decrease in a specific protein related to cholesterol levels, achieving reductions of up to 89% six months later. This matters because it provides a potential treatment option for patients who cannot use traditional methods due to their genetic conditions. Who this helps: Patients with homozygous familial hypercholesterolemia and other liver-related disorders.

PubMed

Spacer Fidelity Assessments of Guide RNA by Top-Down Mass Spectrometry.

2023

ACS central science

Macias LA, Garcia SP, Back KM, Wu Y, Johnson GH +5 more

Plain English
The study examined how to improve the accuracy of guide RNA used in CRISPR gene editing. Researchers found a way to detect and measure tiny impurities in the RNA, achieving precision down to less than 1%. This matters because ensuring the guide RNA is correct can enhance the effectiveness and safety of CRISPR-based treatments for genetic disorders. Who this helps: This benefits patients with genetic diseases who may receive CRISPR therapies.

PubMed

Therapeutic targeting of LCK tyrosine kinase and mTOR signaling in T-cell acute lymphoblastic leukemia.

2022

Blood

Laukkanen S, Veloso A, Yan C, Oksa L, Alpert EJ +22 more

Plain English
This study explored new drug combinations to treat T-cell acute lymphoblastic leukemia (T-ALL), which often comes back after treatment. Researchers found that combining two drugs—temsirolimus and dasatinib—was effective at killing T-ALL cells, significantly reducing leukemia growth in lab tests and even in mice models, indicating its potential in humans. The findings suggest this combination therapy could work well for many patients with T-ALL, especially those resistant to existing treatments. Who this helps: Patients with T-cell acute lymphoblastic leukemia.

PubMed

Precipitating factors of diabetic ketoacidosis in type 1 diabetes patients at a tertiary hospital: a cross-sectional study with a two-time-period comparison.

2022

Archives of endocrinology and metabolism

da Rosa Carlos Monteiro LE, Garcia SP, Bottino LG, Custodio JL, Telo GH +1 more

Plain English
This study looked at the reasons why people with type 1 diabetes end up in the hospital with diabetic ketoacidosis (DKA), comparing data from two time periods: 2005-2010 and 2010-2017. It found that in the more recent period, 34% of DKA cases were linked to not following treatment plans, and 24.7% were due to infections. This is important because understanding these causes can help improve diabetes management and reduce hospitalizations due to DKA. Who this helps: This benefits patients with type 1 diabetes and their healthcare providers.

PubMed

Optimization of Care for Adult Outpatients With Type 2 Diabetes Through the Diabetes Self-Management Multidisciplinary Program: A Randomized Clinical Trial.

2022

Canadian journal of diabetes

Garcia SP, Madalosso MM, Bottino LG, Monteiro LERC, Sparrenberger K +6 more

Plain English
This study looked at how a special program that helps people manage their type 2 diabetes affects their blood sugar levels, quality of life, and self-care habits. The program included meetings with various healthcare professionals and lasted for 12 weeks, but after a year, the program didn't lower blood sugar levels (A1C) more than regular care, with a change of -0.30% for the program group and -0.52% for the regular care group. However, participants in the program reported feeling more satisfied and less worried about their diabetes. Who this helps: This benefits patients, especially those with long-term diabetes and from lower socioeconomic backgrounds.

PubMed

Genome-wide functional perturbation of human microsatellite repeats using engineered zinc finger transcription factors.

2022

Cell genomics

Tak YE, Boulay G, Lee L, Iyer S, Perry NT +12 more

Plain English
Researchers studied how certain DNA sequences, called microsatellite repeats, can become harmful in diseases like Ewing sarcoma. They found that engineered proteins, called zinc finger transcription factors (ZFAs), can effectively turn these harmful repeats into active enhancers, promoting cancer growth. Importantly, a specific ZFA combined with another domain was able to selectively kill Ewing sarcoma cells without affecting other cancer cells, showing potential for targeted treatment. Who this helps: This helps patients with Ewing sarcoma by potentially leading to more effective and targeted therapies.

PubMed

Single-cell analysis and functional characterization uncover the stem cell hierarchies and developmental origins of rhabdomyosarcoma.

2022

Nature cancer

Wei Y, Qin Q, Yan C, Hayes MN, Garcia SP +16 more

Plain English
Researchers studied rhabdomyosarcoma, a common childhood muscle cancer, and discovered it grows from muscle cells that are stuck at specific early developmental stages—as if the cancer cells never finished maturing into adult muscle. They found two main types of these cancers: one resembles muscle cells from early fetal development, while the other resembles muscle cells from a specific 7-week point in fetal development and oddly also activates nerve-related genes. The most important finding is that they identified the exact cancer cells responsible for spreading the disease, and these cells behave like early-stage progenitor cells that normally have the potential to become either muscle or bone cells.

PubMed

PRL3 enhances T-cell acute lymphoblastic leukemia growth through suppressing T-cell signaling pathways and apoptosis.

2021

Leukemia

Garcia EG, Veloso A, Oliveira ML, Allen JR, Loontiens S +18 more

Plain English
This study focused on T-cell acute lymphoblastic leukemia (T-ALL), a serious type of blood cancer. Researchers found that a protein called PRL3 helps T-ALL grow by disrupting important signaling pathways in T-cells and preventing cell death, showing that PRL3 is active in many human T-ALL cases. Targeting PRL3 could be a promising new strategy for treating this aggressive cancer. Who this helps: Patients with T-cell acute lymphoblastic leukemia.

PubMed

CRISPR C-to-G base editors for inducing targeted DNA transversions in human cells.

2021

Nature biotechnology

Kurt IC, Zhou R, Iyer S, Garcia SP, Miller BR +3 more

Plain English
This study focused on improving a gene-editing tool called CRISPR to create specific changes in DNA, specifically changing a cytosine (C) base to a guanine (G) base. Researchers engineered two new versions of this tool, with one version (CGBE1) successfully making these changes in human cells while minimizing unwanted errors. The CGBE1 tool was effective particularly in areas of DNA that are rich in adenine and thymine, suggesting it could be valuable for both research and medical treatments. Who this helps: This benefits researchers and patients needing precise genetic modifications, such as those with genetic disorders.

PubMed

The chromatin landscape of primary synovial sarcoma organoids is linked to specific epigenetic mechanisms and dependencies.

2021

Life science alliance

Boulay G, Cironi L, Garcia SP, Rengarajan S, Xing YH +21 more

Plain English
This study focused on synovial sarcoma (SyS), a hard-to-treat cancer linked to specific genetic changes. Researchers created models of SyS and found that a fusion gene called SS18-SSX changes the way genes are regulated in cancer cells, making them depend on certain processes that can be targeted for treatment. Specifically, they discovered that blocking a protein called USP7 might make these cancer cells more vulnerable to therapy. Who this helps: This benefits patients with synovial sarcoma by identifying potential new treatment targets.

PubMed

Normalization of blood clotting characteristics using prothrombin complex concentrate, fibrinogen and FXIII in an albumin based fluid: experimental studies in thromboelastometry.

2021

Scandinavian journal of trauma, resuscitation and emergency medicine

Koller T, Kinast N, Castellanos AG, Garcia SP, Iglesias PP +8 more

Plain English
This study looked at ways to restore blood clotting using a mixture of proteins and albumin without relying on plasma. The researchers found that combining Prothrombin Complex Concentrate and Fibrinogen Concentrate successfully created a stable blood clot and significantly improved clot firmness measurements, which are important indicators of effective coagulation. These findings are important because they suggest that these new treatments could replace traditional methods for patients who need large transfusions due to severe bleeding. Who this helps: This benefits patients undergoing massive transfusions, such as trauma or surgery patients.

PubMed

In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates.

2021

Nature

Musunuru K, Chadwick AC, Mizoguchi T, Garcia SP, DeNizio JE +37 more

Plain English
Researchers used a gene-editing tool called CRISPR to permanently disable a gene in monkeys' livers that controls cholesterol production, delivering it through tiny fat particles injected into the bloodstream. After a single injection, the monkeys' cholesterol dropped by about 60% and stayed low for at least 8 months without any additional treatment. This proves that gene editing could offer heart disease patients a one-time treatment instead of taking cholesterol drugs for life.

PubMed

Two faces of bivalent domain regulate VEGFA responsiveness and angiogenesis.

2020

Cell death & disease

Chen J, Liang X, Zhang S, Wang S, Garcia SP +14 more

Plain English
This research studied how a specific part of DNA called the bivalent domain influences blood vessel formation in cells called endothelial cells when stimulated by a protein known as VEGFA. The researchers found that certain bivalent domains help activate genes that respond to VEGFA, leading to increased blood vessel growth. Specifically, they showed that a protein called EZH1 boosts blood vessel growth by activating these genes, while another protein called KDM5A has the opposite effect and slows it down. Who this helps: This benefits patients with conditions requiring improved blood vessel formation, such as those with heart disease or wounds that need healing.

PubMed

Diabetes-Specific Questionnaires Validated in Brazilian Portuguese: A Systematic Review.

2020

Archives of endocrinology and metabolism

Bottino LG, Madalosso MM, Garcia SP, Schaan BD, Teló GH

Plain English
This study looked at questionnaires created to help assess different aspects of diabetes care for patients in Brazil, including areas like quality of life and self-efficacy. Researchers found and reviewed 31 questionnaires and sorted them into 11 categories based on what they measure, such as diabetes knowledge and emotional stress. This is important because it provides doctors and researchers with reliable tools in Brazilian Portuguese to better understand and manage diabetes care for patients. Who this helps: This helps patients and healthcare providers in Brazil.

PubMed

hPCL3S promotes proliferation and migration of androgen-independent prostate cancer cells.

2020

Oncotarget

Abdelfettah S, Boulay G, Dubuissez M, Spruyt N, Garcia SP +5 more

Plain English
This study looked at a protein called hPCL3S that is found in prostate cancer cells that do not respond to hormone treatment. Researchers found that hPCL3S is often increased in these cancer cells, leading to more growth and movement of the cancer. For example, reducing hPCL3S decreased the growth and spread of certain cancer cells by about 40%, while increasing it in other cells boosted growth significantly. Who this helps: This helps patients with castration-resistant prostate cancer and their doctors by identifying a potential new target for treatment.

PubMed

A dual-deaminase CRISPR base editor enables concurrent adenine and cytosine editing.

2020

Nature biotechnology

Grünewald J, Zhou R, Lareau CA, Garcia SP, Iyer S +5 more

Plain English
Researchers developed a new tool called SPACE that allows editing two types of DNA letters—adenine (A) and cytosine (C)—at the same time. This tool can change specific DNA sequences from A to G and from C to T with very few mistakes elsewhere in the genetic code. This advancement increases the potential uses of CRISPR technology in genetic research and therapy. Who this helps: This benefits researchers and doctors working on genetic diseases.

PubMed

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function.

2020

Molecular therapy. Nucleic acids

Cruz L, György B, Cheah PS, Kleinstiver BP, Eimer WA +8 more

Plain English
This study looked at a genetic mutation linked to DYT1 dystonia, a movement disorder, focusing on the TOR1A gene. Researchers used a gene-editing tool called CRISPR to target and disrupt the faulty version of this gene in skin cells from patients. They found that this approach significantly reduced the harmful protein levels, which helped restore normal cell function in these patients' cells, suggesting a potential treatment to improve their condition. Who this helps: This benefits patients with DYT1 dystonia.

PubMed

Molecularly distinct models of zebrafish Myc-induced B cell leukemia.

2019

Leukemia

Borga C, Foster CA, Iyer S, Garcia SP, Langenau DM +1 more

PubMed

A dynamic and integrated epigenetic program at distal regions orchestrates transcriptional responses to VEGFA.

2019

Genome research

Wang S, Chen J, Garcia SP, Liang X, Zhang F +17 more

Plain English
This study examined how endothelial cells (cells that line blood vessels) respond to a protein called VEGFA, which plays a key role in blood vessel formation. Researchers found that when these cells were treated with VEGFA, their genetic material quickly changed, leading to significant alterations in gene activity; in particular, a group of transcription factors called the small MAFs were identified as critical players in controlling these changes. Understanding this process is important because it helps us learn how blood vessel formation is regulated, which has implications for conditions like cancer and heart disease. Who this helps: This helps patients with conditions that involve blood vessel growth, such as cancer or heart disease.

PubMed

Transcriptome-wide off-target RNA editing induced by CRISPR-guided DNA base editors.

2019

Nature

Grünewald J, Zhou R, Garcia SP, Iyer S, Lareau CA +2 more

Plain English
This research looked at how a gene-editing tool, known as CRISPR-based base editors, affects RNA in human cells. The study found that these editors can cause a large number of unintended changes to RNA—up to 100% alterations in some cases—across nearly half of the genes tested. This matters because it shows that while these tools can precisely edit DNA, they might also lead to many unwanted RNA changes, which could affect the safety of their use in treatments. Who this helps: This benefits researchers and doctors developing gene therapies.

PubMed

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss.

2019

Nature medicine

György B, Nist-Lund C, Pan B, Asai Y, Karavitaki KD +10 more

Plain English
This study focused on developing a precise way to edit genes that cause dominant hearing loss, using a model called Beethoven mice. Researchers successfully used a specific gene-editing tool that corrected the mutation responsible for deafness without affecting the normal gene, preventing hearing loss in these mice for at least a year. This approach could potentially be applied to about 21% of similar genetic mutations in humans, making it a promising solution for treating certain types of inherited hearing loss. Who this helps: This helps patients with genetic hearing loss, particularly those with dominant mutations like DFNA36.

PubMed

CRISPR DNA base editors with reduced RNA off-target and self-editing activities.

2019

Nature biotechnology

Grünewald J, Zhou R, Iyer S, Lareau CA, Garcia SP +2 more

Plain English
This study focused on improving DNA editing tools called base editors, which can change specific DNA letters in genes. Researchers created new versions of these editors that reduced accidental changes to RNA while still effectively targeting the DNA they were designed for. They found that these improved editors are also smaller, making them easier to use in potential therapies, which matters because reducing unintended edits helps make gene-editing safer and more effective. Who this helps: This helps patients needing gene therapies, as well as doctors who administer these treatments.

PubMed

High levels of AAV vector integration into CRISPR-induced DNA breaks.

2019

Nature communications

Hanlon KS, Kleinstiver BP, Garcia SP, Zaborowski MP, Volak A +14 more

Plain English
This study examined how often a type of virus (AAV) integrates into DNA when using a gene-editing tool (CRISPR-Cas9) in various mouse tissues. They found that AAV integrated into the targeted DNA sites up to 47% of the time, particularly in important genes in brain, muscle, and ear cells. Recognizing this high rate of integration is important because it could impact the safety and effectiveness of gene therapies that use AAV for editing DNA. Who this helps: This helps patients undergoing gene therapy treatments.

PubMed

The financial and time burden associated with phenylketonuria treatment in the United States.

2019

Molecular genetics and metabolism reports

Rose AM, Grosse SD, Garcia SP, Bach J, Kleyn M +2 more

Plain English
This study looked at how much time and money is spent on treating phenylketonuria (PKU) in the U.S. Families dealing with PKU reported spending over $1,600 a year on special low-protein foods for children and $967 for adults, while also dedicating more than 300 hours a year just shopping and preparing these foods. Additionally, teenagers had the highest medical costs at about $54,000 per year, with most of that going to medications like sapropterin, which made up a huge portion of treatment expenses. Who this helps: This information helps families with PKU and healthcare providers understand the financial and time demands of managing the condition.

PubMed

Assessment of computational methods for the analysis of single-cell ATAC-seq data.

2019

Genome biology

Chen H, Lareau C, Andreani T, Vinyard ME, Garcia SP +4 more

Plain English
This study looked at different computer methods used to analyze single-cell ATAC-seq data, which helps scientists understand the DNA structure in individual cells. The researchers tested 10 different methods on various datasets and found that three methods—SnapATAC, Cusanovich2018, and cisTopic—did the best job at distinguishing different types of cells. SnapATAC stood out as it could handle analyzing over 80,000 cells effectively, which is important for better understanding diseases at the cellular level. Who this helps: This helps researchers and healthcare professionals working on cellular and genetic research.

PubMed

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

2018

Kidney international

Merinero HM, García SP, García-Fernández J, Arjona E, Tortajada A +1 more

Plain English
This study looked at the genetic changes in a gene called CFH that is linked to two kidney diseases: atypical hemolytic uremic syndrome (aHUS) and C3-glomerulopathy (C3G). The researchers discovered that out of 28 genetic variants they studied, 24 were confirmed to cause disease, with 16 not showing up in patients' blood and 8 having significantly reduced function, which affects how well the immune system controls inflammation. This is important because understanding these genetic variants can help doctors provide better, personalized treatment for patients with these conditions. Who this helps: Patients with atypical hemolytic uremic syndrome and C3-glomerulopathy.

PubMed

Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.

2018

Journal of the American Society of Nephrology : JASN

Goicoechea de Jorge E, Tortajada A, García SP, Gastoldi S, Merinero HM +6 more

Plain English
This study looked at a rare kidney condition called atypical hemolytic uremic syndrome (aHUS) in a group of 513 patients. Researchers found genetic changes in nine patients that affected a protein called factor H-related 1, which can disrupt the body's ability to regulate blood clotting and contribute to severe aHUS symptoms. Notably, 57% of women with this genetic change experienced severe symptoms after giving birth, highlighting the importance of understanding these genetic factors to better diagnose and treat this condition. Who this helps: This helps patients with aHUS and their doctors in managing the disease effectively.

PubMed

Vangl2/RhoA Signaling Pathway Regulates Stem Cell Self-Renewal Programs and Growth in Rhabdomyosarcoma.

2018

Cell stem cell

Hayes MN, McCarthy K, Jin A, Oliveira ML, Iyer S +11 more

Plain English
This study examined how a specific signaling pathway, involving a protein called Vangl2, influences the behavior of tumor cells in rhabdomyosarcoma, a type of childhood cancer. Researchers found that reducing Vangl2 levels led to a decrease in the number of tumor-propagating cells (TPCs) and triggered their differentiation, both in lab settings and in mouse models. This is important because understanding these mechanisms could lead to new treatments that more effectively target and eliminate these cancer-driving cells. Who this helps: This research benefits patients with rhabdomyosarcoma and their doctors by providing potential new treatment strategies.

PubMed

Cell of origin dictates aggression and stem cell number in acute lymphoblastic leukemia.

2018

Leukemia

Garcia EG, Iyer S, Garcia SP, Loontiens S, Sadreyev RI +2 more

PubMed

Incremental Health Care Costs Associated With Food Insecurity and Chronic Conditions Among Older Adults.

2018

Preventing chronic disease

Garcia SP, Haddix A, Barnett K

Plain English
This study looked at how food insecurity affects health care costs for older adults, specifically those aged 50 and older, alongside chronic health conditions. Researchers found that about 14% of older adults reported being food insecure, which led to higher health care costs, especially for those who also had conditions like hypertension and diabetes. For individuals dealing with both food insecurity and poor health, the costs were significantly greater compared to those who had enough food. Who this helps: This helps older adults facing food insecurity and their healthcare providers.

PubMed

deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish.

2018

eLife

Ignatius MS, Hayes MN, Moore FE, Tang Q, Garcia SP +13 more

Plain English
Researchers studied zebrafish with a mutated tumor-suppressor gene, known to be found in over 50% of human tumors. They discovered that these fish developed a variety of cancers, including aggressive forms of leukemia, and showed that a specific type of muscle cancer, embryonal rhabdomyosarcoma, became more invasive and spread more easily but did not change the number of cancer stem cells present. This discovery is important because it provides a new model to better understand how certain tumors grow and spread, potentially leading to more effective treatments for cancer. Who this helps: This helps patients with cancer, particularly those with Li-Fraumeni syndrome.

PubMed

In vivo CRISPR editing with no detectable genome-wide off-target mutations.

2018

Nature

Akcakaya P, Bobbin ML, Guo JA, Malagon-Lopez J, Clement K +17 more

Plain English
This study examined how CRISPR gene-editing works in living organisms, specifically looking for unintended changes to the DNA. Researchers found that while some CRISPR designs caused unwanted mutations in mouse livers, they could create guide RNA that caused none in a different test. This is important because it shows that safe and effective gene-editing methods are possible, paving the way for new medical treatments. Who this helps: This helps patients needing gene therapy and the doctors who treat them.

PubMed

Antipsychotics and cardiovascular risk: A case/non-case study.

2018

Psychiatry research

Arias LHM, Fadrique RS, García SP, Gil MS, Lobato CT +1 more

Plain English
This study looked at the risk of heart problems in people taking antipsychotic medications compared to those taking other types of drugs. It found that patients taking antipsychotics had a 2.3 times higher chance of experiencing serious heart-related side effects, such as dangerous heart rhythms and sudden death. This is important because it highlights a potential safety issue for people who need these medications for severe mental disorders. Who this helps: This helps patients who are prescribed antipsychotics and their doctors by making them aware of possible heart risks.

PubMed

Extravascular hemolysis and complement consumption in Paroxysmal Nocturnal Hemoglobinuria patients undergoing eculizumab treatment.

2017

Immunobiology

Subías Hidalgo M, Martin Merinero H, López A, Anter J, García SP +6 more

Plain English
This study looked at patients with Paroxysmal Nocturnal Hemoglobinuria (PNH) who were being treated with a medication called eculizumab. Out of 12 patients, 10 (about 83%) showed signs of ongoing hemolysis, which is the destruction of red blood cells, despite not needing blood transfusions. Additionally, 7 patients (58%) tested positive for an immune response that resulted from the treatment, particularly among those with a specific genetic variant that might make them more prone to infections. Who this helps: This research benefits PNH patients and their doctors by identifying those who may need different treatment strategies.

PubMed

Potency of Human Cardiosphere-Derived Cells from Patients with Ischemic Heart Disease Is Associated with Robust Vascular Supportive Ability.

2017

Stem cells translational medicine

Harvey E, Zhang H, Sepúlveda P, Garcia SP, Sweeney D +10 more

Plain English
The study looked at cells taken from patients with heart disease to determine how well they can support new blood vessel formation. Researchers found that these cells vary significantly in their effectiveness; some cells were poor at supporting vessel growth and led to less improvement in heart repair when tested in animals. This discovery helps identify which patients would benefit most from this type of cell therapy, potentially leading to better treatment options and outcomes. Who this helps: This helps patients with ischemic heart disease.

PubMed

Clinical-Community Partnerships to Identify Patients With Food Insecurity and Address Food Needs.

2017

Preventing chronic disease

Lundeen EA, Siegel KR, Calhoun H, Kim SA, Garcia SP +7 more

Plain English
This study looked at programs in the U.S. that help identify patients who don't have enough food and connect them with food resources. Researchers found 57 programs, of which 22 specifically screen patients for food insecurity and link them to food help, with 13 of those focusing on patients with chronic diseases and many partnering with food banks. These initiatives matter because they can improve health outcomes for at-risk patients, particularly those over 50 years old. Who this helps: This helps patients facing food insecurity, especially older adults and those with chronic health conditions.

PubMed

Robust lineage reconstruction from high-dimensional single-cell data.

2016

Nucleic acids research

Giecold G, Marco E, Garcia SP, Trippa L, Yuan GC

Plain English
This study focused on developing a new method called ECLAIR to better understand how cells are related to each other based on their gene activity. The researchers found that ECLAIR accurately reconstructed known cell relationships from previous data and also provided a clearer estimate of how certain these predictions are. This is important because it helps scientists understand cellular hierarchy more reliably, which could improve research in areas like cancer and developmental biology. Who this helps: Researchers studying cell development and diseases.

PubMed

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis.

2015

Nature

Canver MC, Smith EC, Sher F, Pinello L, Sanjana NE +14 more

Plain English
This study focused on a specific enhancer of the BCL11A gene, which plays a key role in producing red blood cells. The researchers used a technique called CRISPR to identify important features of this enhancer in both humans and mice. They found that specific parts of the enhancer that are important for its function in humans differ from those in mice, which is significant because it could help develop treatments to increase fetal hemoglobin levels for patients with certain blood disorders. Who this helps: This benefits patients with blood disorders such as sickle cell disease and beta-thalassemia.

PubMed

Major components of metabolic syndrome and adiponectin levels: a cross-sectional study.

2014

Diabetology & metabolic syndrome

von Frankenberg AD, do Nascimento FV, Gatelli LE, Nedel BL, Garcia SP +5 more

Plain English
This study examined the relationship between a protein called adiponectin and metabolic syndrome (MS), which is a cluster of conditions like high blood pressure and diabetes that raise the risk of heart disease. Researchers analyzed data from 172 people at one hospital and 422 at another, finding that those with metabolic syndrome had lower levels of total and high molecular weight adiponectin. Specifically, lower adiponectin levels were associated with having high waist size, low good cholesterol (HDL), and high triglycerides and blood sugar. This matters because higher adiponectin levels are linked to a lower chance of developing metabolic syndrome, highlighting its potential role in predicting this health issue. Who this helps: This research helps doctors and healthcare providers identify patients at risk for metabolic syndrome.

PubMed

Transcriptional diversity during lineage commitment of human blood progenitors.

2014

Science (New York, N.Y.)

Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP +62 more

Plain English
This study examined how human blood cells develop from their earliest forms, focusing on the genes that influence their different paths as they grow. Researchers found changes in 6,711 genes and identified over 10,700 RNA versions that are specific to certain blood cell types, including many new ways in which these genes can be used differently as cells mature. This work is crucial because understanding these processes can improve treatments like blood cell transplants and regenerative therapies. Who this helps: This helps patients needing blood cell transplants and doctors involved in hematology and regenerative medicine.

PubMed

Inter-STOP symbol distances for the identification of coding regions.

2013

Journal of integrative bioinformatics

Bastos CA, Afreixo V, Garcia SP, Pinho AJ

Plain English
This study looked at how the distance between STOP symbols in DNA can help identify coding regions, which are the parts of the DNA that contain instructions for making proteins. The researchers found that measuring these distances can effectively distinguish coding regions in simpler organisms like bacteria and yeast. This discovery can lead to better understanding of DNA and its functions, which is important for genetics and molecular biology. Who this helps: This benefits researchers and scientists studying DNA and its coding regions.

PubMed

DNA sequences at a glance.

2013

PloS one

Pinho AJ, Garcia SP, Pratas D, Ferreira PJ

Plain English
This study focuses on how to better analyze and visualize large DNA sequences, which are becoming increasingly difficult to interpret due to their size. Researchers developed a new tool called "information profile" that allows for quick assessment of the complexity of DNA sequences. The tool is efficient, working in a time that matches the length of the sequences, and is shown to be effective in identifying important genomic patterns in studies of yeast and human DNA. Who this helps: This benefits biologists and researchers working on DNA analysis, particularly in genomics.

PubMed

Publication data sourced from PubMed . Plain-English summaries generated by AI. Not medical advice.