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Articles by Helen Su
GPR15-guided CD8 + T regulatory cells control intestinal inflammation
Abstract Inflammatory bowel disease (IBD) causes chronic suffering from gastrointestinal inflammation and dysfunction that can progress to colon cancer1,2. The disease prevalence is increasing and there is an urgent need to better understand its pathogenic mechanisms to improve treatment.
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant
eLife Assessment This important study reports on PIK3R1 mutations and a paradoxical mechanism of PIK3R1 signaling. The strength of evidence for the study is mostly convincing, as conclusions are supported by a variety of mutational strategies and cellular systems to look at interactions among signaling pathways.
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant
eLife Assessment This important study reports on PIK3R1 mutations and a paradoxical mechanism of PIK3R1 signaling. The strength of evidence for the study is mostly convincing, as conclusions are supported by a variety of mutational strategies and cellular systems to look at interactions among signaling pathways.
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway - Nature Immunology
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Correction to: Nature Immunology https://doi.org/10.1038/s41590-023-01691-y, published online 3 January 2024. In the version of the article initially published, Buket Dalgıç (Department of Pediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey) was mistakenly omitted from the author list and has now been added in the HTML and PDF versions of the article. About this article Park, A.Y., Leney-Greene, M., Lynberg, M. et al.
By Ann Park, Justin Q. Gabrielski, Hyoungjun Ham, Jean Michel Chanchu, Aaron R. Morawski, Aiman J. Faruqi, Samuel D. Chauvin, Holden T Maecker, Saban Tekin, Altan Kara, Odile Filhol, Mark Davis, Erika L. Pearce, Oliver Daumke, Caner Aytekin, V. Koneti Rao, Sule Haskologlu, Safa Baris, Helen Su, Satoshi KUBO
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Nature
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GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway - Nature Immunology
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Abstract Preserving cells in a functional, non-senescent state is a major goal for extending human healthspans. Model organisms reveal that longevity and senescence are genetically controlled, but how genes control longevity in different mammalian tissues is unknown.
By Ann Park, Aiman J. Faruqi, Samuel D. Chauvin, Holden T Maecker, Altan Kara, Odile Filhol, Mark Davis, Erika L. Pearce, Oliver Daumke, Caner Aytekin, V. Koneti Rao, Sule Haskologlu, Safa Baris, Helen Su, Justin Q. Gabrielski, Hyoungjun Ham, Jean Michel Chanchu, Aaron R. Morawski, Saban Tekin, Satoshi KUBO
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Nature
Verified
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant
Abstract PIK3R1 encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110alpha, p110beta or p110delta.
Patient experience and satisfaction with symptomatic faecal immunochemical testing: an explanatory sequential mixed-methods evaluation
Study 2: Semi-structured interviews Of the 260 adults who returned a survey, 60 (23.1%) consented to participate in a follow-up interview. Of these, 20 (7.7%) were ultimately selected (at random) and contacted for interview. The mean age of participants participating in interviews was 63.5 years (range 37–78) and the mean IMD tertile of the population was 2.13 (range 1–3).
Patient experience and satisfaction with symptomatic faecal immunochemical testing: an explanatory sequential mixed-methods evaluation
Study 2: Semi-structured interviews Of the 260 adults who returned a survey, 60 (23.1%) consented to participate in a follow-up interview. Of these, 20 (7.7%) were ultimately selected (at random) and contacted for interview. The mean age of participants participating in interviews was 63.5 years (range 37–78) and the mean IMD tertile of the population was 2.13 (range 1–3).
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19 - Nature Medicine
Statistics and reproducibility This was a natural history study of consecutive cases of patients with pCOVID-19 and MIS-C enrolled at the referring institutions. Informed consent was provided by the parents or guardians and assent by the minor, when appropriate. No statistical method was used to predetermine sample size. Investigators analyzing biomarker levels were blinded to the characteristics of the patients from whom the blood samples had been obtained.
Journal Club: Slaying the Sleeper Cells of Aging
Today we are revisiting a topic and episode that was originally aired back when Journal Club was part of the a16z podcast. We are covering it again in light of a new research article published in Science, as both this episode and this newer research article are trying to find a way to kill senescent cells.
Journal Club: A Safer Psychedelic
Move over microdosing, there is a new approach to psychedelic medicine. Psychedelics — like LSD and psilocybin — are some of the most powerful drugs that affect our brains, but their therapeutic potential has been limited due to their adverse side effects. That is where the work of today’s guest, Dr. David Olson (@DEOlsonLab) of UC Davis, comes in.
Journal Club: Synthetic Germs, Our Newest Weapon for Fighting Cancer
Immuno-oncology, which leverages the body’s own immune system to fight cancer, is a true medical revolution. But to date, these therapies have only targeted one of the two arms of the immune system: the adaptive immune system. This is the arm that contains T cells, B cells, and antibodies and is what we generally think of when talking about immunity.
Journal Club: Why do only some people get severe COVID-19?
One of the enduring mysteries of COVID-19 is why some people get a severe disease that can be fatal, whereas the majority experience a very mild or even asymptomatic disease. On this episode of the Bio Eats World Journal Club, host Lauren Richardson (@lr_bio) discusses this discrepancy with Dr. Helen Su, Chief of the Human Immunological Diseases Section at the National Institute of Allergy and Infectious Diseases (part of the NIH) and co-leader of the COVID Human Genetic Effort.
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear. Studies of outliers—individuals remaining uninfected despite viral exposure and healthy young patients with life-threatening disease—present a unique opportunity to reveal human genetic determinants of infection and disease.
Granulomatosis with Polyangiitis and Severe Systemic Eosinophilia Due to a Novel PIK3CD mutation
Heterozygous gain-of-function mutations in phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene ( PIK3CD) , encoding the p110d subunit of phosphoinositide-3-kinase cause primary immunodeficiency with clinical manifestations of recurrent infections, lymphoproliferation, autoimmune cytopenias, and lymphoma. We present a patient with a de novo coding variant and unexpected phenotype.
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