Archival Material - No Longer Maintained
The Genetics Journal Club was designed to engage medical students in discussion of current topics in genetics. The project ran for more than 10 years on different online platforms, and concluded in 2021. The material in this research guide is provided for informational purposes only.
October 2021
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AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal DialysisMorelle, J., Marechal, C., Yu, Z., Debaix, H., Corre, T., Lambie, M., Verduijn, M., Dekker, F., Bovy, P., Evenepoel, P., Bammens, B., Selgas, R., Bajo, M. A., Coester, A. M., Sow, A., Hautem, N., Struijk, D. G., Krediet, R. T., Balligand, J. L., Goffin, E., … Devuyst, O. (2021). AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis. The New England journal of medicine, 385(17), 1570–1580. https://doi.org/10.1056/NEJMoa2034279
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In Gratitude for mRNA VaccinesStuart L. M. (2021). In Gratitude for mRNA Vaccines. The New England journal of medicine, 385(15), 1436–1438. https://doi.org/10.1056/NEJMcibr2111445
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Obesity-Associated GNAS Mutations and the Melanocortin PathwayMendes de Oliveira, E., Keogh, J. M., Talbot, F., Henning, E., Ahmed, R., Perdikari, A., Bounds, R., Wasiluk, N., Ayinampudi, V., Barroso, I., Mokrosiński, J., Jyothish, D., Lim, S., Gupta, S., Kershaw, M., Matei, C., Partha, P., Randell, T., McAulay, A., Wilson, L. C., … Farooqi, I. S. (2021). Obesity-Associated GNAS Mutations and the Melanocortin Pathway. The New England journal of medicine, 385(17), 1581–1592. https://doi.org/10.1056/NEJMoa2103329
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Optogenetics — The Might of LightHäusser M. (2014). Optogenetics: the age of light. Nature methods, 11(10), 1012–1014. https://doi.org/10.1038/nmeth.3111
September 2021
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A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionChai, G., Szenker-Ravi, E., Chung, C., Li, Z., Wang, L., Khatoo, M., Marshall, T., Jiang, N., Yang, X., McEvoy-Venneri, J., Stanley, V., Anzenberg, P., Lang, N., Wazny, V., Yu, J., Virshup, D. M., Nygaard, R., Mancia, F., Merdzanic, R., Toralles, M., … Gleeson, J. G. (2021). A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. The New England journal of medicine, 385(14), 1292–1301. https://doi.org/10.1056/NEJMoa2033911
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Breast Cancer, HER2 Mutations, and Overcoming Drug ResistanceBose, R., & Ma, C. X. (2021). Breast Cancer, HER2 Mutations, and Overcoming Drug Resistance. The New England journal of medicine, 385(13), 1241–1243. https://doi.org/10.1056/NEJMcibr2110552
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Kayser–Fleischer Rings in Wilson’s DiseaseChandra, A., & Bhattacharjee, M. S. (2021). Kayser-Fleischer Rings in Wilson's Disease. The New England journal of medicine, 385(14), e46. https://doi.org/10.1056/NEJMicm2103029
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Sense and Sense Ability in a Synthetic Genetic CodeLiu C. C. (2021). Sense and Sense Ability in a Synthetic Genetic Code. The New England journal of medicine, 385(11), 1045–1048. https://doi.org/10.1056/NEJMcibr2109352
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Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous MalformationsPeyre, M., Miyagishima, D., Bielle, F., Chapon, F., Sierant, M., Venot, Q., Lerond, J., Marijon, P., Abi-Jaoude, S., Le Van, T., Labreche, K., Houlston, R., Faisant, M., Clémenceau, S., Boch, A. L., Nouet, A., Carpentier, A., Boetto, J., Louvi, A., & Kalamarides, M. (2021). Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations. The New England journal of medicine, 385(11), 996. https://doi.org/10.1056/NEJMoa2100440
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Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer CellsLisco, A., Hsu, A. P., Dimitrova, D., Proctor, D. M., Mace, E. M., Ye, P., Anderson, M. V., Hicks, S. N., Grivas, C., Hammoud, D. A., Manion, M., Starrett, G. J., Farrel, A., Dobbs, K., Brownell, I., Buck, C., Notarangelo, L. D., Orange, J. S., Leonard, W. J., Orestes, M. I., … Sereti, I. (2021). Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer Cells. The New England journal of medicine, 385(10), 921–929. https://doi.org/10.1056/NEJMoa2102715
August 2021
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CD19-Targeted CAR T Cells in Refractory Systemic Lupus ErythematosusMougiakakos D, Krönke G, Völkl S, Kretschmann S, Aigner M, Kharboutli S, Böltz S, Manger B, Mackensen A, Schett G. CD19-Targeted CAR T Cells in Refractory Systemic Lupus Erythematosus. N Engl J Med. 2021 Aug 5;385(6):567-569. doi: 10.1056/NEJMc2107725. PMID: 34347960.
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Gene Editing — A Cure for Transthyretin Amyloidosis?Maurer MS. Gene Editing - A Cure for Transthyretin Amyloidosis? N Engl J Med. 2021 Aug 5;385(6):558-559. doi: 10.1056/NEJMe2110557. PMID: 34347958.
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SARS-CoV-2 Variants in Patients with ImmunosuppressionCorey L, Beyrer C, Cohen MS, Michael NL, Bedford T, Rolland M. SARS-CoV-2 Variants in Patients with Immunosuppression. N Engl J Med. 2021 Aug 5;385(6):562-566. doi: 10.1056/NEJMsb2104756. PMID: 34347959.
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Turning Purple with PainFredrick TW, Braga Neto MB, Johnsrud DO, Camilleri M, Chedid VG. Turning Purple with Pain. N Engl J Med. 2021 Aug 5;385(6):549-554. doi: 10.1056/NEJMcps2105278. PMID: 34347956.
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Variant PNLDC1, Defective piRNA Processing, and AzoospermiaNagirnaja L, Mørup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jørgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup K. Variant PNLDC1, Defective piRNA Processing, and Azoospermia. N Engl J Med. 2021 Aug 19;385(8):707-719. doi: 10.1056/NEJMoa2028973. Epub 2021 Aug 4. PMID: 34347949.
July 2021
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Freedom of SpeechHochberg LR, Cash SS. Freedom of Speech. N Engl J Med. 2021 Jul 15;385(3):278-279. doi: 10.1056/NEJMe2106392. PMID: 34260841.
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Hepatocellular Carcinoma — Origins and OutcomesKelley RK, Greten TF. Hepatocellular Carcinoma - Origins and Outcomes. N Engl J Med. 2021 Jul 15;385(3):280-282. doi: 10.1056/NEJMcibr2106594. PMID: 34260842.
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Neuroprosthesis for Decoding Speech in a Paralyzed Person with AnarthriaMoses DA, Metzger SL, Liu JR, Anumanchipalli GK, Makin JG, Sun PF, Chartier J, Dougherty ME, Liu PM, Abrams GM, Tu-Chan A, Ganguly K, Chang EF. Neuroprosthesis for Decoding Speech in a Paralyzed Person with Anarthria. N Engl J Med. 2021 Jul 15;385(3):217-227. doi: 10.1056/NEJMoa2027540. PMID: 34260835.
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Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical ControlsDarras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L; FIREFISH Working Group. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047. PMID: 34320287.
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To Scar or Not to ScarClark, R. A. (2021). To Scar or Not to Scar. New England Journal of Medicine, 385(5), 469-471.
Webinar Series
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- Webinar 1: Molecular Characterisation of Cancers for Precision Oncology - Thurs Oct 7 3pm BST/ 4pm CEST/ 10am EDT
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Genetic Mutations Underlying Azoospermia
One third of couples have fertility problems, which are often due to male factors, including nonobstructive azoospermia. Men with nonobstructive azoospermia have intact seminal ducts but impaired spermatogenesis. A growing number of gene variants have been implicated. New research findings are summarized in a short video.
Visual Abstract
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Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous MalformationsSomatic PIK3CA Mutations in Sporadic
Cerebral Cavernous Malformations
