S H Rosenthal studies ways to make genetic testing more effective and accessible for patients with blood cancers, such as acute myeloid leukemia and myelodysplastic syndrome. They have developed advanced tools that analyze the genetic changes in these conditions, allowing doctors to pinpoint specific mutations that can influence treatment decisions. Additionally, Rosenthal works on identifying genetic risks for inherited cancers, helping to find potential cancer-causing mutations in families. This research is crucial for early diagnosis and tailored medical care.
Key findings
Developed a high throughput SARS-CoV-2 whole genome sequencing workflow that can analyze nearly 2,700 samples at once, catching more viral mutations and improving responses to new COVID-19 variants.
Created a 48-gene next-generation sequencing panel with a 99.6% accuracy rate in detecting mutations, identifying disease-causing mutations in 77% of acute leukemia patients, 48% of myelodysplastic patients, and 45% of myeloproliferative patients.
Launched a 34-gene inherited cancer predisposition panel that found cancer-causing mutations in about 10% of 500 tested patients, including in notable cancer genes like BRCA1 and BRCA2.
Frequently asked questions
Does Dr. Rosenthal study cancer?
Yes, Dr. Rosenthal focuses on both blood cancers and inherited cancer risks, researching genetic mutations associated with these conditions.
What treatments has Dr. Rosenthal researched?
Dr. Rosenthal's research helps develop better diagnostic tools, which allow doctors to choose more effective treatments based on specific genetic mutations in cancer patients.
Is Dr. Rosenthal's work relevant to COVID-19?
Yes, Dr. Rosenthal developed an efficient method for SARS-CoV-2 genome sequencing that enhances tracking of viral mutations, which is vital for managing COVID-19.
How accurate are the genetic tests developed by Dr. Rosenthal?
The genetic tests developed by Dr. Rosenthal have shown near-perfect accuracy, with one test correctly identifying mutations 99.6% of the time.
Can Dr. Rosenthal's research help in early cancer detection?
Absolutely. Their work on inherited cancer predisposition panels helps identify individuals at high risk for cancer, allowing for early screening and preventive measures.
Publications in plain English
Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory.
2022
Scientific reports
Rosenthal SH, Gerasimova A, Ruiz-Vega R, Livingston K, Kagan RM +10 more
Plain English Researchers developed a faster, more efficient way to read the complete genetic code of the COVID-19 virus directly from patient samples, allowing a single lab to analyze nearly 2,700 samples at once instead of just a few. The new method works as well as older approaches but is simpler to run and catches more viral mutations that might otherwise be missed. This matters because tracking how the virus mutates helps doctors stay ahead of new variants and develop better treatments and vaccines.
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
2021
PloS one
Rosenthal SH, Gerasimova A, Ma C, Li HR, Grupe A +13 more
Plain English Researchers developed and tested a genetic screening tool that checks 48 genes for mutations in blood cancers like acute myeloid leukemia, myelodysplastic syndrome, and myeloproliferative neoplasms—including genes that are notoriously hard to analyze with standard methods. The test was nearly perfect, correctly identifying mutations 99.6% of the time with zero false positives, and when applied to over 2,000 patients, it found disease-causing mutations in about half of them (77% of acute leukemia patients, 48% of myelodysplastic patients, and 45% of myeloproliferative patients). This matters because identifying these specific mutations helps doctors diagnose blood cancers accurately and choose the right treatment for each patient.
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
2020
BioMed research international
Rosenthal SH, Sun W, Zhang K, Liu Y, Nguyen Q +15 more
Plain English Researchers created and tested a genetic test that checks 34 genes known to increase cancer risk in families; the test successfully identified cancer-causing genetic mutations with near-perfect accuracy in over 600 patient samples. When they used this test on their first 500 patients, they found dangerous mutations in about 10% of them, mostly in well-known cancer genes like BRCA1 and BRCA2, but also in less famous genes that doctors hadn't been routinely checking before. This test allows doctors to identify people at high risk for inherited cancers so they can monitor these patients more closely and potentially prevent cancer through early screening or preventive treatment.
High Level Production of Monoclonal Antibodies Using an Optimized Plant Expression System.
2019
Frontiers in bioengineering and biotechnology
Diamos AG, Hunter JGL, Pardhe MD, Rosenthal SH, Sun H +4 more
Plain English This study looked at producing monoclonal antibodies using plants instead of traditional mammalian cells, which can be a more efficient method. The researchers found they could produce high amounts of proteins, including a special antibody targeting the Zika virus, with yields of around 1.5 grams of antibody per kilogram of plant leaves. This method is important because it can make the production of various medical therapies faster and less expensive.
Who this helps: This benefits patients who need antibody-based treatments, as well as doctors and researchers developing therapies.
An intronless form of the tobacco extensin gene terminator strongly enhances transient gene expression in plant leaves.
2018
Plant molecular biology
Rosenthal SH, Diamos AG, Mason HS
Plain English This study looked at a specific gene from tobacco plants that helps improve how effectively plants can be used to produce proteins, particularly when a part of the gene is removed. Researchers found that by taking out an intron from this gene terminator, they were able to increase the expression of genes they inserted into the plants by up to 13.5 times, which means the plants can make more of the desired proteins. This is important because it can make it easier and more efficient to use plants for creating valuable proteins used in medicine and research.
Who this helps: This benefits researchers and industries that produce proteins for medical and scientific purposes.
5' and 3' Untranslated Regions Strongly Enhance Performance of Geminiviral Replicons in Nicotiana benthamiana Leaves.
2016
Frontiers in plant science
Diamos AG, Rosenthal SH, Mason HS
Plain English This study looked at ways to improve how plants produce proteins, specifically using a system based on a virus that infects plants. The researchers tested different genetic elements and found that using specific parts from human and plant genes significantly increased protein levels. For example, they produced more than 1.8 mg of a Norwalk virus protein per gram of leaf, which is over double the previous record for plants, as well as a monoclonal antibody called rituximab at 1 mg per gram.
Who this helps: This benefits researchers and companies working on vaccines and therapeutics produced in plants.
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.
2015
PloS one
Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH +7 more
Plain English This study focused on creating and testing a new method to identify genetic changes (mutations) in the BRCA1 and BRCA2 genes, which are important for understanding breast and ovarian cancer risk. The researchers found that their new approach, using a combination of technologies called MiSeq and QSAP, could accurately detect all known mutations without any mistakes, achieving 100% accuracy in their tests on 379 samples. This matters because accurate testing for these gene mutations can help ensure that patients receive the right treatment and prevention strategies.
Who this helps: This helps patients at risk of breast and ovarian cancer by providing reliable genetic testing.
Pain insensitivity in schizophrenia. Case report and review of the literature.
1990
General hospital psychiatry
Rosenthal SH, Porter KA, Coffey B
Plain English This study examined a man with schizophrenia who did not feel pain, which delayed the diagnosis of a serious medical condition involving his intestines. The review highlighted that some patients with mental health conditions might not display typical pain responses, making it essential for doctors to stay alert for potential serious illnesses. Understanding this can lead to quicker diagnoses and treatments.
Who this helps: This helps doctors and healthcare providers in treating patients with schizophrenia.