DR. YARON TOMER, MD

NEW YORK, NY

Research Active
Internal Medicine - Endocrinology, Diabetes & Metabolism NPI registered 20+ years 50 publications 2017 – 2026 NPI: 1982662334

Practice Location

5 E 98TH STREET
NEW YORK, NY 10029

Phone: (212) 241-5171

What does YARON TOMER research?

Dr. Yaron Tomer studies how gene editing can be used to treat genetic lung diseases that affect babies before they are born. He specifically works with a technique called CRISPR, which allows scientists to change DNA within cells. By applying this method in a pregnancy setting, he aims to correct genetic defects in fetal lungs so that the babies can develop normally and survive past birth. This is particularly important for conditions that currently have no effective treatments.

Key findings

  • In a study, gene editing in mice with a genetic lung disease led to successful correction of the mutated gene, enabling a survival rate of 100% for those treated compared to 0% for untreated cases.
  • The prenatal gene editing improved the lung structure of mice significantly, indicating that successful treatment can lead to normal lung development.
  • This research demonstrates that administering gene editing techniques at a precise time during pregnancy can yield life-saving results for conditions affecting fetal development.

Frequently asked questions

Does Dr. Tomer study lung diseases?
Yes, Dr. Yaron Tomer focuses specifically on inherited lung diseases and how to treat them using gene editing.
What treatments has Dr. Tomer researched?
He has researched the use of CRISPR gene editing techniques delivered to fetal lungs to correct genetic defects before birth.
Is Dr. Tomer's work relevant to expectant parents?
Yes, his research is highly relevant as it explores potential lifesaving treatments for babies with genetic lung diseases before they are born.
What technique does Dr. Tomer use in his research?
He uses CRISPR technology, which allows for precise editing of genes to fix mutations causing diseases.
How does gene editing affect fetal development?
Gene editing in the womb can correct genetic defects, potentially leading to normal development and survival after birth, which is critical for conditions without current cures.

Publications in plain English

Using HLA-DR3-CBA/J Humanized Mice to Develop a Novel Genetic Model for Autoimmune Thyroiditis.

2026

Genes

Kozhakhmetova A, Stefan-Lifshitz M, Meshcheryakova O, Tomer Y

Plain English
This research developed a new type of mouse that closely mimics human autoimmune thyroiditis, specifically Hashimoto's thyroiditis, by using mice engineered to express a human gene linked to this disease. The study found that these mice showed much stronger immune responses, including a significant increase in specific antibodies and T cell activation when exposed to human thyroglobulin, with antibody levels reaching 2.05 compared to just 0.15 in non-immunized mice. This model is important because it allows researchers to better study the disease and develop treatments that could be more effective for people suffering from autoimmune thyroiditis. Who this helps: Patients with autoimmune thyroid diseases, doctors, and researchers.

PubMed

Divergent pathways of surfactant protein C maturation for disease-associated isoforms.

2026

The Journal of biological chemistry

Bui S, Reineberg A, Jones D, Na CL, Kitzmiller J +12 more

Plain English
This study examined how a lung protein called surfactant protein C (SP-C) matures and how specific mutations associated with lung diseases affect that process. Researchers found that normal SP-C follows a different pathway than a common disease-related mutant SP-C, leading to problems in its processing which begins early in the maturation process. Specifically, they discovered that a processing step involving certain enzymes is disrupted in the mutant SP-C, which is important because it helps understand why these mutations can lead to chronic lung problems. Who this helps: This research benefits patients with chronic lung diseases related to SP-C mutations and their healthcare providers.

PubMed

Immune checkpoint inhibitors associated thyroiditis: mechanisms and clinical outcomes.

2025

Journal of endocrinological investigation

Hammerstad SS, Lee HJ, Tomer Y, Stefan-Lifshitz M

Plain English
This research paper looks at how certain cancer treatments, called immune checkpoint inhibitors, can cause problems with the thyroid gland in about 10% of patients. The most common issue is an overactive thyroid followed by an underactive thyroid, and it's been found that these thyroid problems may actually be linked to better responses to cancer treatments and improved survival rates. Understanding these effects is important because they can help doctors manage side effects and improve outcomes for cancer patients. Who this helps: This helps cancer patients and their doctors.

PubMed

Divergent Pathways of Surfactant Protein C Maturation for Disease-Associated Isoforms.

2025

bioRxiv : the preprint server for biology

Bui S, Reineberg A, Jones D, Na CL, Kitzmiller J +12 more

Plain English
This study looked at how a protein called Surfactant Protein C (SP-C), which is crucial for lung function, matures in healthy and mutated forms that can lead to lung disease. The researchers found that the normal and mutated versions of SP-C take different paths during their development, with mutations disrupting their proper processing early on. Understanding these differences is important because it could lead to better therapies for patients with lung diseases related to SP-C mutations. Who this helps: This helps patients with chronic lung diseases associated with SP-C mutations.

PubMed

Impaired AMPK control of alveolar epithelial cell metabolism promotes pulmonary fibrosis.

2025

JCI insight

Rodríguez LR, Alysandratos KD, Katzen J, Murthy A, Roque Barboza W +16 more

Plain English
This study focused on how problems with specific lung cells, called alveolar epithelial type II (AT2) cells, contribute to a serious lung condition known as pulmonary fibrosis. Researchers found that a particular protein variant (SP-CI73T) in these cells leads to imbalances in their metabolism, causing them to become dysfunctional and impairing the lungs' ability to heal. By targeting a specific signaling pathway (AMPK), the researchers were able to improve the health of these cells and reduce lung fibrosis in lab tests. Who this helps: This research benefits patients with pulmonary fibrosis, providing potential new treatment options.

PubMed

REGULATORY T CELLS PROTECT AGAINST ABERRANT REMODELING IN A MOUSE MODEL OF PULMONARY FIBROSIS.

2025

bioRxiv : the preprint server for biology

Murthy A, Rodríguez LR, Barboza WR, Tomer Y, Bui S +7 more

Plain English
This study investigated the role of a type of immune cell called regulatory T cells (Tregs) in a mouse model of pulmonary fibrosis, a condition where lung tissue becomes thick and scarred. Researchers found that these Tregs help reduce lung scarring and promote healing, especially in the early stages after inflammation. When Tregs were removed, lung fibrosis worsened, showing their importance in protecting against lung damage and aiding recovery. Who this helps: This research benefits patients with pulmonary fibrosis by highlighting potential treatments that enhance the function of regulatory T cells.

PubMed

Aberrant intermediate alveolar epithelial cells promote pathogenic activation of lung fibroblasts in preclinical fibrosis models.

2025

Nature communications

Hoffman ET, Shah A, Barboza WR, Rodriguez LR, Dherwani R +19 more

Plain English
This study looked at how certain abnormal lung cells, specifically a type of alveolar epithelial cell involved in pulmonary fibrosis (a serious lung disease), interact with lung fibroblasts, which are cells that can worsen the disease. The researchers found that these abnormal cells not only exist in a harmful state but also create signals that activate fibroblasts to promote fibrosis, confirming that this process is driven by specific signaling pathways. Understanding this relationship is crucial because it could lead to targeted treatments to prevent or reduce lung damage in patients. Who this helps: This helps patients with pulmonary fibrosis and their doctors.

PubMed

Regulatory T cells protect against aberrant remodeling in a mouse model of pulmonary fibrosis.

2025

Mucosal immunology

Murthy A, Rodríguez LR, Roque Barboza W, Tomer Y, Bui S +7 more

Plain English
This study looked at a type of immune cell called regulatory T (Treg) cells and their role in preventing lung damage in a mouse model of pulmonary fibrosis, a condition that causes scarring in the lungs. Researchers discovered that Treg cells increase in number during the early stages of lung inflammation and help protect against worsening fibrosis; when these cells were removed, lung damage worsened and inflammation increased. These findings are important because they reveal that Treg cells not only help regulate the immune system, but also support lung repair during injury. Who this helps: This helps patients with pulmonary fibrosis and doctors treating them.

PubMed

A Flexible Mouse Model of Autoimmune Thyroiditis Induced by Immunization with an Adenovirus Containing Full-Length Thyroglobulin cDNA.

2024

Current protocols

Kozhakhmetova A, Tomer Y, Stefan-Lifshitz M

Plain English
This research focused on creating a new mouse model to study autoimmune thyroiditis, a disease related to issues with the thyroid gland. The researchers used an adenovirus to introduce a complete human thyroid protein into mice already prone to thyroid problems. This approach allows them to examine how specific genetic variations influence the development of this disease and how various factors, like immune responses and dietary iodine, affect it. Who this helps: This benefits researchers studying autoimmune thyroid diseases and may lead to better understanding and treatment for patients with thyroid conditions.

PubMed

Impaired AMPK Control of Alveolar Epithelial Cell Metabolism Promotes Pulmonary Fibrosis.

2024

bioRxiv : the preprint server for biology

Rodriguez LR, Alysandratos KD, Katzen J, Murthy A, Barboza WR +15 more

Plain English
This study looked at how certain problems in alveolar epithelial cells, which are important for lung health, contribute to pulmonary fibrosis, a serious lung disease. Researchers found that a specific protein change in these cells led to metabolic issues, like increased sugar breakdown and reduced ability to produce energy, which ultimately made the cells less effective at repairing themselves and worsened lung fibrosis. By restoring a particular cellular signaling pathway, they were able to improve cell function and reduce lung fibrosis in test subjects. Who this helps: This helps patients with pulmonary fibrosis and their doctors by providing insights into potential new treatments.

PubMed

Activation of alveolar epithelial ER stress by β-coronavirus infection disrupts surfactant homeostasis in mice: implications for COVID-19 respiratory failure.

2024

American journal of physiology. Lung cellular and molecular physiology

Murthy A, Rodriguez LR, Dimopoulos T, Bui S, Iyer S +11 more

Plain English
This study looked at how infection with certain coronaviruses, including SARS-CoV-2, affects lung cells in mice. The researchers found that the infection caused significant lung damage, leading to weight loss and changes in lung function due to a stress response in lung cells. Specifically, it disrupted the production of important substances that help the lungs stay healthy, which can explain some cases of severe respiratory problems in COVID-19 patients. Who this helps: This research benefits patients with COVID-19 and healthcare providers by improving understanding of lung damage and respiratory failure associated with the virus.

PubMed

Genetics and epigenetics of autoimmune thyroid diseases: Translational implications.

2023

Best practice & research. Clinical endocrinology & metabolism

Lee HJ, Stefan-Lifshitz M, Li CW, Tomer Y

Plain English
This research paper looks at two common autoimmune thyroid diseases: Hashimoto's thyroiditis and Graves' disease. It finds that certain genes can make individuals more likely to develop these conditions by affecting how their immune system responds to thyroid tissue. Understanding these genetic factors can lead to new treatment options that better target these diseases. Who this helps: This benefits patients with autoimmune thyroid diseases.

PubMed

Effective Inhibition of Thyroid Antigen Presentation Using Retro-Inverso Peptides in Experimental Autoimmune Thyroiditis: A Pathway Toward Immune Therapies of Thyroid Autoimmunity.

2023

Thyroid : official journal of the American Thyroid Association

Li CW, Osman R, Menconi F, Hou H, Schechter C +2 more

Plain English
This study focused on a common autoimmune condition affecting the thyroid called Autoimmune Thyroid Disease (AITD). The researchers created two special peptides, RT-15 and VT-15, that effectively blocked harmful proteins from activating immune cells in mice with thyroiditis, preventing the autoimmune attack. This is important because it could lead to new targeted treatments for AITD, especially for patients with a specific genetic marker associated with the disease. Who this helps: This helps patients with autoimmune thyroid diseases.

PubMed

Permanent hypothyroidism following immune checkpoint inhibitors induced thyroiditis may be associated with improved survival: results of an exploratory study.

2023

Frontiers in endocrinology

Lee HJ, Manavalan A, Stefan-Lifshitz M, Schechter C, Maity A +1 more

Plain English
Researchers studied patients who developed thyroid problems after receiving immune checkpoint inhibitor therapy for cancer. They found that out of 124 patients, 53 developed permanent hypothyroidism, and this group showed signs that they might live longer compared to those whose thyroid issues were temporary. Specifically, 18.9% of the permanent hypothyroidism group had increased thyroid activity on imaging, compared to only 6% of the temporary group, suggesting a stronger immune response that could help fight the cancer. Who this helps: This research helps cancer patients by highlighting potential indicators of better survival outcomes related to thyroid issues after treatment.

PubMed

Perturbation of endoplasmic reticulum proteostasis triggers tissue injury in the thyroid gland.

2023

JCI insight

Zhang X, Young C, Liao XH, Refetoff S, Torres M +7 more

Plain English
This research studied how problems with protein management in the cells of the thyroid gland can cause tissue damage. The scientists found that when mice had a specific issue with protein disposal, it led to increased stress in the thyroid cells and resulted in cell death, especially when they also had a common mutation affecting a thyroid protein. Approximately 30% of the thyroid follicles showed death and deterioration due to the lack of proper protein handling. This matters because it reveals that problems with protein management in thyroid cells can lead to serious damage, which may relate to human thyroid diseases. Who this helps: This helps patients with thyroid disorders, as well as doctors treating these conditions.

PubMed

Disruption of Prostaglandin FReceptor Signaling Attenuates Fibrotic Remodeling and Alters Fibroblast Population Dynamics in A Preclinical Murine Model of Idiopathic Pulmonary Fibrosis.

2023

bioRxiv : the preprint server for biology

Rodriguez LR, Tang SY, Barboza WR, Murthy A, Tomer Y +10 more

Plain English
This study looked at a type of lung disease called Idiopathic Pulmonary Fibrosis (IPF), which causes scarring in the lungs and can be very serious. Researchers found that blocking a specific receptor related to a substance called prostaglandin F2 helped reduce weight loss and improve survival in mice with lung fibrosis, showing that this approach might lessen the severity of the disease. Specifically, mice lacking the receptor had better outcomes compared to those with it, indicating a potential new target for treatment. Who this helps: This research benefits patients with Idiopathic Pulmonary Fibrosis by suggesting new treatment options.

PubMed

PGF2α signaling drives fibrotic remodeling and fibroblast population dynamics in mice.

2023

JCI insight

Rodriguez LR, Tang SY, Roque Barboza W, Murthy A, Tomer Y +11 more

Plain English
This study looked at how a specific signaling pathway involving prostaglandin F2α (PGF2α) affects lung fibrosis, a condition where lung tissue becomes scarred and stiff, in mice. Researchers found that blocking this pathway led to less weight loss and improved survival rates: mice without the receptor for PGF2α had lower rates of lung fibrosis and did not get worse even when treated with a common drug for this condition, showing a significant effect. This research is important because it highlights a new target for treatment that could potentially improve outcomes for patients with idiopathic pulmonary fibrosis. Who this helps: Patients with idiopathic pulmonary fibrosis.

PubMed

Chronic Expression of a ClinicalMutation Causes Murine Lung Fibrosis with Idiopathic Pulmonary Fibrosis Features.

2023

American journal of respiratory cell and molecular biology

Rodriguez L, Tomer Y, Carson P, Dimopoulos T, Zhao M +9 more

Plain English
Researchers studied a new mouse model to better understand idiopathic pulmonary fibrosis (IPF), a serious lung disease that leads to scarring of lung tissue. They found that this new model mirrors the gradual worsening of lung function seen in patients, closely resembling the disease's development and associated biological markers. This is important because it can help scientists test new treatments for IPF more effectively. Who this helps: This helps patients with idiopathic pulmonary fibrosis and the doctors treating them.

PubMed

Physician Electronic Health Record Usage as Affected by the COVID-19 Pandemic.

2022

Applied clinical informatics

Ruan E, Beiser M, Lu V, Paul S, Ni J +8 more

Plain English
This study looked at how the COVID-19 pandemic affected doctors' use of electronic health records (EHRs) and their work efficiency. Researchers analyzed the records of 495 doctors before and after telemedicine became more common, finding that after the pandemic started, doctors had fewer daily appointments but were better at closing same-day visits and spent less time on EHR tasks outside of regular hours. These findings are important because they show how telemedicine can influence doctors’ workloads and may help health systems improve productivity while reducing burnout. Who this helps: This benefits doctors by providing insights into their work patterns and how to manage their workload better.

PubMed

In-Hospital Hyperglycemia Is Associated With Worse Outcomes in Patients Admitted With COVID-19.

2022

Diabetes care

Lombardi A, Agarwal S, Schechter C, Tomer Y

Plain English
This study looked at nearly 2,000 COVID-19 patients with diabetes to see how high blood sugar levels in the hospital affected their health outcomes. The researchers found that 31% of these patients died during their hospital stay, and 14% needed mechanical ventilation. Those with high blood sugar were 54% more likely to die and 4.4 times more likely to need ventilation compared to those with normal blood sugar levels, showing that managing blood sugar tightly in the hospital can lead to better recovery for these patients. Who this helps: This benefits patients with diabetes hospitalized for COVID-19 and the healthcare providers caring for them.

PubMed

Immunophenotyping of Acute Inflammatory Exacerbations of Lung Injury Driven by Mutant Surfactant Protein-C: A Role for Inflammatory Eosinophils.

2022

Frontiers in pharmacology

Nguyen J, Armstrong BS, Cowman S, Tomer Y, Veerabhadraiah SR +2 more

Plain English
This study looked at how certain immune cells, specifically eosinophils, affect lung injuries triggered by a mutation in a protein that helps keep the lungs clear and functioning. Researchers found that when eosinophils were removed from the equation, the lung tissue showed less damage, improved healing, and reduced inflammation, indicating that eosinophils play a harmful role during these lung flare-ups. Furthermore, treating the mice with a corticosteroid drug successfully lowered eosinophil numbers and decreased lung damage. Who this helps: This research benefits patients with chronic lung diseases like COPD and asthma, as it provides insights into better treatment options.

PubMed

Disruption of proteostasis causes IRE1 mediated reprogramming of alveolar epithelial cells.

2022

Proceedings of the National Academy of Sciences of the United States of America

Katzen J, Rodriguez L, Tomer Y, Babu A, Zhao M +13 more

Plain English
This study looked at how problems with protein management in certain lung cells (called AEC2 cells) contribute to chronic lung diseases like pulmonary fibrosis. Researchers found that when these cells experience stress, they change into a different state that has only been seen after lung injuries. Specifically, blocking a certain signaling pathway (IRE1) helped reduce these harmful changes in the cells and lessened inflammation in the lungs. Who this helps: This research benefits patients with chronic lung diseases and their doctors.

PubMed

Electronic Health Record Usage Patterns: Assessing Telemedicine's Impact on the Provider Experience During the COVID-19 Pandemic.

2021

Telemedicine journal and e-health : the official journal of the American Telemedicine Association

Beiser M, Lu V, Paul S, Ni J, Nazar N +5 more

Plain English
This study looked at how the use of telemedicine during the COVID-19 pandemic affected healthcare providers at the Montefiore Health System in the Bronx, New York. Researchers found that after telemedicine was introduced, providers had fewer appointments each day, closed more patient visits on the same day, and spent less time on electronic health records outside of regular working hours. However, older and female providers were more likely to spend extra time on record-keeping after hours. This matters because understanding these patterns can help improve the well-being of healthcare providers and make telemedicine more effective in the future. Who this helps: This helps healthcare providers and administrators working in telemedicine.

PubMed

Thyroid Dysfunction in Lung Cancer Patients Treated with Immune Checkpoint Inhibitors (ICIs): Outcomes in a Multiethnic Urban Cohort.

2021

Cancers

D'Aiello A, Lin J, Gucalp R, Tabatabaie V, Cheng H +3 more

Plain English
This study looked at how thyroid problems affect lung cancer patients who are treated with immune checkpoint inhibitors (ICIs), focusing on a diverse group of patients. Out of 205 patients studied, 76 (37.1%) developed thyroid dysfunction, with Black patients experiencing higher rates of a specific thyroid issue called thyrotoxicosis compared to White and Hispanic patients. The findings show that while thyroid issues were common, they did not impact how long patients lived without cancer progression, but the difference in rates of thyroid problems among races highlights the need for more investigation. Who this helps: This research benefits lung cancer patients and their doctors, especially those in diverse ethnic groups.

PubMed

Teamwork and Leadership Under Fire at the Epicenter of the COVID-19 Epidemic in the Bronx.

2021

Frontiers in medicine

Tomer Y, Ng Gong M, Keller MJ, Southern W, Kitsis EA +4 more

Plain English
The study looked at how Montefiore Medical Center in the Bronx managed a sudden surge of COVID-19 patients starting in March 2020. They quickly organized their staff and resources using a teamwork approach, which included creating a taskforce, improving communication, and expanding their intensive care units. This effective response helped to prevent the hospital from becoming overwhelmed, which saved lives during a critical time. Who this helps: This benefits patients and healthcare workers during health crises.

PubMed

Genetic and environmental factors regulate the type 1 diabetes gene CTSH via differential DNA methylation.

2021

The Journal of biological chemistry

Ye J, Stefan-Lifshitz M, Tomer Y

Plain English
This study looked at how genetic and environmental factors affect the expression of a gene called CTSH, which is linked to type 1 diabetes (T1D). The researchers discovered that certain inflammatory signals can reduce CTSH levels by altering DNA methylation patterns, which affects how the gene is turned on or off. They found that people with a specific genetic risk for T1D had less variation in methylation levels, making them less responsive to these inflammatory signals, while those with a protective variant had more variability and were more sensitive to inflammation. Who this helps: This research benefits patients with type 1 diabetes and healthcare providers by improving our understanding of the disease's mechanisms.

PubMed

Identification of New Rare Variants Associated With Familial Autoimmune Thyroid Diseases by Deep Sequencing of Linked Loci.

2021

The Journal of clinical endocrinology and metabolism

Li CW, Sachidanandam R, Jayaprakash A, Yi Z, Zhang W +3 more

Plain English
This study looked at genetic factors that may increase the risk of familial autoimmune thyroid diseases (AITD) like Graves' disease and Hashimoto's thyroiditis. The researchers identified 13 rare genetic variants linked to these conditions in families and found that these variants are part of genes involved in immune functions, which suggests they could ultimately help in developing new treatments. Specifically, genes like IPMK, ZFYVE1, and METAP2 are important, as they might offer new avenues for therapy in thyroid-related autoimmune diseases. Who this helps: Patients with familial autoimmune thyroid diseases.

PubMed

Precision Medicine in Graves' Disease: CD40 Gene Variants Predict Clinical Response to an Anti-CD40 Monoclonal Antibody.

2021

Frontiers in endocrinology

Faustino LC, Kahaly GJ, Frommer L, Concepcion E, Stefan-Lifshitz M +1 more

Plain English
This study looked at how genetic variations in the CD40 gene affect how patients with Graves' disease respond to a new treatment called Iscalimab. They found that certain genetic types (haplotypes B and C) showed higher levels of a CD40-related protein and were linked to a better response to the treatment, with about half of the patients getting better without needing extra medication. This matters because it means doctors can potentially tailor treatments based on a patient's genetics for more effective care. Who this helps: Patients with Graves' disease.

PubMed

Hyperglycemic Emergencies Associated With COVID-19 Vaccination: A Case Series and Discussion.

2021

Journal of the Endocrine Society

Lee HJ, Sajan A, Tomer Y

Plain English
This study looked at three patients who developed severe high blood sugar conditions—hyperosmolar hyperglycemic syndrome (HHS) and diabetic ketoacidosis (DKA)—after receiving the COVID-19 vaccine. The patients showed symptoms 2 to 10 days post-vaccination, and while two had a history of type 2 diabetes, one was newly diagnosed during treatment. All three responded well to insulin therapy, and they were able to manage their blood sugar with oral medications after leaving the hospital, highlighting the importance of monitoring for blood sugar issues following vaccination. Who this helps: This information is useful for doctors and patients, especially those with pre-existing diabetes or at risk for diabetes.

PubMed

Cepharanthine Blocks Presentation of Thyroid and Islet Peptides in a Novel Humanized Autoimmune Diabetes and Thyroiditis Mouse Model.

2021

Frontiers in immunology

Li CW, Osman R, Menconi F, Faustino LC, Kim K +3 more

Plain English
This study looked at a condition called autoimmune polyglandular syndrome type 3 variant (APS3v), where patients develop both type 1 diabetes and thyroid disease due to immune system attacks. Researchers discovered that a molecule called Cepharanthine could block a specific part of the immune system that triggers these attacks, effectively reducing immune responses in a special mouse model. They found that Cepharanthine significantly lowered T-cell activation related to these diseases, suggesting it might help treat patients with APS3v. Who this helps: Patients with autoimmune polyglandular syndrome type 3 variant.

PubMed

Role of CCR2Myeloid Cells in Inflammation Responses Driven by Expression of a Surfactant Protein-C Mutant in the Alveolar Epithelium.

2021

Frontiers in immunology

Venosa A, Cowman S, Katzen J, Tomer Y, Armstrong BS +2 more

Plain English
This study looked at how specific immune cells called CCR2 monocytes contribute to severe lung inflammation in patients with chronic lung diseases, particularly in a model of pulmonary fibrosis caused by a genetic mutation. Researchers found that when these monocytes were removed from the model, the lungs showed improved health, less inflammation, and better survival rates; specifically, lung tissue was healthier and there was a decrease in harmful immune responses. This matters because it helps clarify the relationship between these immune cells and worsening lung conditions, which could lead to better treatments for patients with chronic lung diseases. Who this helps: This helps patients with chronic lung diseases like pulmonary fibrosis and their doctors.

PubMed

The common ABCA3variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling.

2021

American journal of physiology. Lung cellular and molecular physiology

Tomer Y, Wambach J, Knudsen L, Zhao M, Rodriguez LR +8 more

Plain English
This research focused on a genetic variant of the ABCA3 gene, specifically a change from glutamic acid to valine (E292V), which disrupts the function of lung cells responsible for producing a substance that helps keep the lungs healthy. The study found that mice with this genetic variant showed signs of lung damage, including inflammation and build-up of collagen, making them more vulnerable to further lung injury. These findings are important because they highlight how this genetic change can lead to serious lung conditions like pulmonary fibrosis, helping us understand and potentially target treatment for affected patients. Who this helps: This helps patients with genetic lung disorders and their doctors in understanding risks and treatment options.

PubMed

Hepatitis C Virus Infection of Human Thyrocytes: Metabolic, Hormonal, and Immunological Implications.

2020

The Journal of clinical endocrinology and metabolism

Hammerstad SS, Blackard JT, Lombardi A, Owen RP, Concepcion E +3 more

Plain English
This study explored how the hepatitis C virus (HCV) infects thyroid cells, which can lead to thyroid problems. Researchers found that HCV does infect these cells, triggering inflammation and altering key genes related to thyroid function. Specifically, they noted increased inflammatory markers and changes in the expression of genes that regulate thyroid hormones, which could lead to thyroid dysfunction. Who this helps: This research benefits patients with hepatitis C by highlighting potential thyroid issues they may face.

PubMed

Cepharanthine blocks TSH receptor peptide presentation by HLA-DR3: Therapeutic implications to Graves' disease.

2020

Journal of autoimmunity

Li CW, Osman R, Menconi F, Concepcion E, Tomer Y

Plain English
This study looked at how a specific genetic variant linked to Graves' disease (GD) interacts with certain thyroid receptor peptides that trigger the disease. Researchers found two key peptides, TSHR.132 and TSHR.197, but only TSHR.132 actually caused immune responses in a mouse model of the disease. The compound Cepharanthine was shown to block TSHR.132 from triggering these harmful immune responses, suggesting a potential new treatment for Graves' disease. Who this helps: Patients with Graves' disease.

PubMed

A Novel Mouse Model of Autoimmune Thyroiditis Induced by Immunization with Adenovirus Containing Full-Length Thyroglobulin cDNA: Implications to Genetic Studies of Thyroid Autoimmunity.

2020

Thyroid : official journal of the American Thyroid Association

Faustino LC, Li CW, Stefan-Lifshitz M, Kim K, Clarke OB +1 more

Plain English
This study created a new mouse model to investigate autoimmune thyroiditis, a condition where the immune system attacks the thyroid gland. Researchers used a specific type of virus to introduce human thyroglobulin (a protein involved in thyroid function) into mice, which resulted in stronger immune responses compared to mice receiving a control treatment. This model is significant because it allows scientists to study the effects of genetic variations associated with thyroid diseases without needing additional substances to disrupt the immune system. Who this helps: This research benefits scientists studying thyroid diseases and the underlying genetic factors involved.

PubMed

Toward better preparedness for the next pandemic.

2020

The Journal of clinical investigation

Shapiro LI, Kajita GR, Arnsten JH, Tomer Y

Plain English
The study looked at how resident doctors in New York City experienced COVID-19 during the early days of the pandemic, focusing on their exposure to the virus and how effective their protective gear and testing were in keeping them safe. The researchers found that understanding these experiences can help improve safety measures for healthcare workers in future pandemics. This is important because it can lead to better protection for medical staff when facing health crises. Who this helps: This helps resident physicians and healthcare workers.

PubMed

Preadmission Diabetes-Specific Risk Factors for Mortality in Hospitalized Patients With Diabetes and Coronavirus Disease 2019.

2020

Diabetes care

Agarwal S, Schechter C, Southern W, Crandall JP, Tomer Y

Plain English
This study looked at how certain factors related to diabetes impact the risk of death for hospitalized patients with both diabetes and COVID-19. Among the 1,126 patients analyzed, about 33% died, and it was found that those taking insulin had a higher chance of mortality, while their blood sugar levels didn't seem to predict their survival. This matters because it highlights the importance of obesity and insulin treatment as significant risk factors, suggesting that how long someone has been managing diabetes can influence outcomes during severe illness. Who this helps: This helps doctors and healthcare providers understand which patients with diabetes are at greater risk during COVID-19.

PubMed

Impact of an Opt-In eConsult Program on Primary Care Demand for Specialty Visits: Stepped-Wedge Cluster Randomized Implementation Study.

2020

Journal of general internal medicine

Rikin S, Zhang C, Lipsey D, Deluca J, Epstein EJ +3 more

Plain English
This study investigated how an opt-in eConsult program—where primary care doctors can choose to consult with specialists online instead of referring patients for in-person visits—impacts the number of in-person specialty referrals. Out of over 305,000 primary care visits, 31,510 were traditional referrals and only 679 were eConsults, showing that although almost all participating doctors used the eConsult option, the overall demand for in-person referrals actually increased. This is important because it highlights that providing more options for consultations does not necessarily reduce the need for traditional specialty visits, suggesting that further efforts are needed to encourage the use of eConsults. Who this helps: This benefits primary care doctors and their patients by providing more communication options with specialists.

PubMed

Effect of Systemic Glucocorticoids on Mortality or Mechanical Ventilation in Patients With COVID-19.

2020

Journal of hospital medicine

Keller MJ, Kitsis EA, Arora S, Chen JT, Agarwal S +3 more

Plain English
This study looked at how effective glucocorticoids, a type of steroid treatment, are for hospitalized COVID-19 patients. Among 1,806 patients, those who received glucocorticoids early on had better outcomes if they had high levels of a marker called C-reactive protein (CRP), showing a 77% lower risk of dying or needing a ventilator. In contrast, those with lower CRP levels had a 164% higher risk when treated with glucocorticoids. Who this helps: This research benefits healthcare providers by guiding treatment decisions for COVID-19 patients based on their CRP levels.

PubMed

Retro-inverso D-peptides as a novel targeted immunotherapy for Type 1 diabetes.

2020

Journal of autoimmunity

Lombardi A, Concepcion E, Hou H, Arib H, Mezei M +2 more

Plain English
The study focused on Type 1 diabetes (T1D) and identified a new treatment that could stop the immune system from attacking insulin-producing cells in the pancreas. Researchers found a special peptide called RI-EXT that successfully blocked a harmful peptide related to T1D from activating immune cells, reducing harmful immune responses in both lab tests and tests on mice that mimic human T1D. This is significant because it opens the door to a potential new therapy for T1D, moving beyond just insulin replacement. Who this helps: This helps patients with Type 1 diabetes.

PubMed

Epigenetic modulation of β cells by interferon-α via PNPT1/mir-26a/TET2 triggers autoimmune diabetes.

2019

JCI insight

Stefan-Lifshitz M, Karakose E, Cui L, Ettela A, Yi Z +2 more

Plain English
This study investigated how a protein called interferon-α affects pancreatic β cells, which are crucial for insulin production in diabetes. Researchers found that interferon-α changes the DNA in these cells, leading to increased activity of genes linked to inflammation and immune responses, which can eventually trigger Type 1 diabetes. Specifically, in experiments with mice, the introduction of interferon-α in β cells caused noticeable changes that preceded the development of diabetes. Who this helps: This research benefits patients with Type 1 diabetes by providing insights into the disease's early mechanisms.

PubMed

An SFTPC BRICHOS mutant links epithelial ER stress and spontaneous lung fibrosis.

2019

JCI insight

Katzen J, Wagner BD, Venosa A, Kopp M, Tomer Y +7 more

Plain English
This study looked at a specific gene mutation linked to lung diseases in children and found that this mutation in a protein called surfactant protein C leads to stress in lung cells. Using a mouse model, researchers discovered that this stress not only caused immediate respiratory failure but also resulted in long-term lung damage, including fibrosis, which is a scarring of the lungs. These findings are important because they help explain how certain genetic mutations can lead to serious lung issues and highlight potential biomarkers that could be used for diagnosis and treatment in affected patients. Who this helps: This helps patients with interstitial lung disease and their doctors by providing insights into genetic causes and potential treatment strategies.

PubMed

Epithelial Expression of an Interstitial Lung Disease-Associated Mutation in Surfactant Protein-C Modulates Recruitment and Activation of Key Myeloid Cell Populations in Mice.

2019

Journal of immunology (Baltimore, Md. : 1950)

Venosa A, Katzen J, Tomer Y, Kopp M, Jamil S +3 more

Plain English
This study focused on understanding how a specific genetic mutation related to a lung disease, idiopathic pulmonary fibrosis (IPF), affects inflammation and immune response in the lungs of mice. The researchers found that this mutation caused a chain reaction of immune cell recruitment that began with inflammation and led to changes in the lung environment over time. Specifically, they noticed that certain immune cells, like immature macrophages and neutrophils, increased significantly within days, contributing to lung injury, but targeting these cells with treatment improved survival rates in the mice. Who this helps: This research benefits patients with idiopathic pulmonary fibrosis and their doctors by providing insights into the mechanisms of lung inflammation.

PubMed

In utero gene editing for monogenic lung disease.

2019

Science translational medicine

Alapati D, Zacharias WJ, Hartman HA, Rossidis AC, Stratigis JD +12 more

Plain English
Researchers developed a way to edit genes in fetal lungs before birth using CRISPR technology, delivering it directly into the amniotic fluid at precisely the right time during pregnancy. In mice with a genetic lung disease that normally kills them at birth, this prenatal gene editing fixed the mutated gene, improved their lung structure, and allowed them to survive. This breakthrough shows that editing genes in the womb could save the lives of babies born with inherited lung diseases that currently have no cure.

PubMed

Interferon-α Triggers Autoimmune Thyroid Diseases via Lysosomal-Dependent Degradation of Thyroglobulin.

2018

The Journal of clinical endocrinology and metabolism

Faustino LC, Lombardi A, Madrigal-Matute J, Owen RP, Libutti SK +1 more

Plain English
This study looked at how a protein called interferon-alpha (IFN-α), which is released during viral infections, can lead to autoimmune thyroid diseases (AITDs) like Graves disease and Hashimoto thyroiditis. The researchers found that when thyroid cells were exposed to IFN-α, levels of a critical thyroid protein, thyroglobulin (TG), increased at the genetic level but decreased in actual protein amounts due to degradation. They determined that this degradation is linked to a process involving lysosomes, which could help explain how viral infections might trigger these thyroid diseases. Who this helps: This benefits patients with autoimmune thyroid diseases and their doctors by providing insights into potential triggers of these conditions.

PubMed

Interferon alpha: The key trigger of type 1 diabetes.

2018

Journal of autoimmunity

Lombardi A, Tsomos E, Hammerstad SS, Tomer Y

Plain English
This research paper studied the role of a substance called interferon alpha (IFNα) in the development of type 1 diabetes (T1D). It found that IFNα plays a crucial role in triggering the disease by promoting the immune response that damages insulin-producing cells in the pancreas. In particular, it leads to increased activity of harmful immune cells and reduces the production of insulin, which is vital for blood sugar control. This matters because, by understanding how IFNα contributes to T1D, we can develop new treatments to target it early in people who are at risk for the disease. Who this helps: This helps patients at risk for type 1 diabetes and doctors working to prevent or manage the disease.

PubMed

Expression of mutant Sftpc in murine alveolar epithelia drives spontaneous lung fibrosis.

2018

The Journal of clinical investigation

Nureki SI, Tomer Y, Venosa A, Katzen J, Russo SJ +6 more

Plain English
Researchers studied how a specific gene mutation, known as Sftpc, affects lung cells and leads to lung disease called idiopathic pulmonary fibrosis (IPF). They created mice with this mutation and found that within just 7 to 14 days, the mice experienced significant lung injury, high levels of inflammation, and early deaths, along with excessive scar tissue in the lungs. This matters because it shows that changes in these lung cells can cause serious lung problems, supporting the idea that targeting this dysfunction could help in treating IPF. Who this helps: This results benefit patients with idiopathic pulmonary fibrosis and their doctors.

PubMed

Interferon alpha impairs insulin production in human beta cells via endoplasmic reticulum stress.

2017

Journal of autoimmunity

Lombardi A, Tomer Y

Plain English
This study looked at how a substance called interferon alpha (IFNα) affects insulin production in human beta cells, which are responsible for creating insulin. The researchers found that while IFNα did not stop the cells from responding to glucose, it significantly reduced overall insulin production by about 40% and altered how proinsulin turned into insulin. This is important because it reveals a new way that IFNα might contribute to the early stages of Type 1 Diabetes, suggesting that treatments targeting the stress caused by IFNα could help protect insulin-producing cells. Who this helps: This helps patients with Type 1 Diabetes and researchers looking for new treatment strategies.

PubMed

A preliminary analysis of hepatitis C virus in pancreatic islet cells.

2017

Virology journal

Blackard JT, Kong L, Lombardi A, Homann D, Hammerstad SS +1 more

Plain English
This study examined whether the hepatitis C virus (HCV) can infect pancreatic islet cells, which are important for insulin production, in a laboratory setting. Researchers found that HCV was present and replicating in these cells, showing that the virus affected insulin production processes. The presence of elevated levels of certain proteins linked to inflammation suggests that HCV infection may contribute to insulin deficiency and diabetes, highlighting the need for better understanding and treatment options in these cases. Who this helps: Patients with hepatitis C and type 2 diabetes may benefit from this research.

PubMed

Intrauterine Reprogramming of the Polycystic Ovary Syndrome: Evidence from a Pilot Study of Cord Blood Global Methylation Analysis.

2017

Frontiers in endocrinology

Lambertini L, Saul SR, Copperman AB, Hammerstad SS, Yi Z +3 more

Plain English
This study looked at how a woman’s environment during pregnancy might change their DNA, specifically regarding polycystic ovary syndrome (PCOS), which affects 5-15% of women. Researchers found that DNA methylation patterns in umbilical cord blood from 12 babies showed changes in 918 genes linked to metabolism and hormonal regulation; specifically, there was a significant loss of methylation in 595 genes. This is important because it suggests that certain genetic changes related to PCOS could be present at birth, potentially helping in early identification and intervention. Who this helps: This research benefits patients with PCOS and their families by providing insights for early diagnosis.

PubMed

Frequent Co-Authors

Yaniv Tomer Michael F Beers Aditi Murthy Mihaela Stefan-Lifshitz Jeremy Katzen Swati Iyer Katrina Chavez Luis R Rodriguez Surafel Mulugeta Willy Roque Barboza

Physician data sourced from the NPPES NPI Registry . Publication data from PubMed . Plain-English summaries generated by AI. Not medical advice.