Research Guides: Genetics Journal Club: 2018-2019

January 2019

Peutz–Jeghers Syndrome
Sengupta S, Bose S. Peutz-Jeghers Syndrome. N Engl J Med. 2019 Jan 31;380(5):472. doi: 10.1056/NEJMicm1806623. PubMed PMID: 30699321.
After the Storm — A Responsible Path for Genome Editing
Daley GQ, Lovell-Badge R, Steffann J. After the Storm - A Responsible Path for Genome Editing. N Engl J Med. 2019 Jan 16. doi: 10.1056/NEJMp1900504. [Epub ahead of print] PubMed PMID: 30649993.
Rogues and Regulation of Germline Editing
Charo RA. Rogues and Regulation of Germline Editing. N Engl J Med. 2019 Jan 16. doi: 10.1056/NEJMms1817528. [Epub ahead of print] PubMed PMID: 30650001.
PARP Inhibitors and Parkinson’s Disease
Olsen AL, Feany MB. PARP Inhibitors and Parkinson's Disease. N Engl J Med. 2019 Jan 31;380(5):492-494. doi: 10.1056/NEJMcibr1814680. PubMed PMID: 30699325.
The Future of Gene Editing — Toward Scientific and Social Consensus
Rosenbaum L. The Future of Gene Editing - Toward Scientific and Social Consensus. N Engl J Med. 2019 Jan 16. doi: 10.1056/NEJMms1817082. [Epub ahead of print] PubMed PMID: 30649992.
Steering CAR T Cells into Solid Tumors
Brown MH, Dustin ML. Steering CAR T Cells into Solid Tumors. N Engl J Med. 2019 Jan 17;380(3):289-291. doi: 10.1056/NEJMcibr1811991. PubMed PMID: 30650328.
New Neuroscience of Homeostasis and Drives for Food, Water, and Salt
Lowell BB. New Neuroscience of Homeostasis and Drives for Food, Water, and Salt. N Engl J Med. 2019 Jan 31;380(5):459-471. doi: 10.1056/NEJMra1812053. PubMed PMID: 30699320.

December 2018

Diagnostic Utility of Exome Sequencing for Kidney Disease
Groopman, E. E., Marasa, M., Cameron-Christie, S., Petrovski, S., Aggarwal, V. S., Milo-Rasouly, H., ... & Lam, W. Y. (2018). Diagnostic Utility of Exome Sequencing for Kidney Disease. New England Journal of Medicine.
Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa
Tshilolo, L., Tomlinson, G., Williams, T. N., Santos, B., Olupot-Olupot, P., Lane, A., ... & Ware, R. E. (2018). Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa. New England Journal of Medicine.
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease
Juge, P. A., Lee, J. S., Ebstein, E., Furukawa, H., Dobrinskikh, E., Gazal, S., ... & Tsuchiya, N. (2018). MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. New England Journal of Medicine, 379(23), 2209-2219.
Tackling Tsc1 to Promote Nephrogenesis
Ingelfinger, J. R. (2018). Tackling Tsc1 to Promote Nephrogenesis. New England Journal of Medicine, 379(25), 2476-2478.
Worldwide Frequencies of APOL1 Renal Risk Variants
Nadkarni, G. N., Gignoux, C. R., Sorokin, E. P., Daya, M., Rahman, R., Barnes, K. C., ... & Kenny, E. E. (2018). Worldwide Frequencies of APOL1 Renal Risk Variants. New England Journal of Medicine, 379(26), 2571-2572.
Tofacitinib Treatment and Molecular Analysis of Cutaneous Sarcoidosis
Damsky, W., Thakral, D., Emeagwali, N., Galan, A., & King, B. (2018). Tofacitinib Treatment and Molecular Analysis of Cutaneous Sarcoidosis. New England Journal of Medicine, 379(26), 2540-2546.
Mapping Symptoms to Brain Networks with the Human Connectome
Fox, M. D. (2018). Mapping symptoms to brain networks with the human connectome. New England Journal of Medicine, 379(23), 2237-2245.

November 2018

Application of Cell-free DNA Analysis to Cancer Treatment
Corcoran, R. B., & Chabner, B. A. (2018). Application of Cell-free DNA Analysis to Cancer Treatment. New England Journal of Medicine, 379(18), 1754-1765.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., ... & Jacob, H. J. (2018). Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. New England Journal of Medicine.
HSD17B13 and Chronic Liver Disease in Blacks and Hispanics
Kozlitina, J., Stender, S., Hobbs, H. H., & Cohen, J. C. (2018). HSD17B13 and Chronic Liver Disease in Blacks and Hispanics. New England Journal of Medicine, 379(19), 1876-1877.
Inhibition of Casein Kinase 1 Alpha in Acute Myeloid Leukemia
Ebert, B. L., & Krönke, J. (2018). Inhibition of Casein Kinase 1 Alpha in Acute Myeloid Leukemia. New England Journal of Medicine, 379(19), 1873-1874.
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease
Juge, P. A., Lee, J. S., Ebstein, E., Furukawa, H., Dobrinskikh, E., Gazal, S., ... & Tsuchiya, N. (2018). MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. New England Journal of Medicine.

October 2018

Classification and Personalized Prognosis in Myeloproliferative Neoplasms
Grinfeld, J., Nangalia, J., Baxter, E. J., Wedge, D. C., Angelopoulos, N., Cantrill, R., ... & Cook, J. (2018). Classification and Personalized Prognosis in Myeloproliferative Neoplasms. New England Journal of Medicine, 379(15), 1416-1430.
Classification, Ontology, and Precision Medicine
Haendel, M. A., Chute, C. G., & Robinson, P. N. (2018). Classification, Ontology, and Precision Medicine. New England Journal of Medicine, 379(15), 1452-1462.
Association of coffee drinking with mortality by genetic variation in caffeine metabolism: findings from the UK Biobank
Loftfield, E., Cornelis, M. C., Caporaso, N., Yu, K., Sinha, R., & Freedman, N. (2018). Association of coffee drinking with mortality by genetic variation in caffeine metabolism: findings from the UK Biobank. JAMA internal medicine, 178(8), 1086-1097.
Hemoglobinopathies in the Fetal Position
Pasricha, S. R., & Drakesmith, H. (2018). Hemoglobinopathies in the Fetal Position. New England Journal of Medicine, 379(17), 1675-1677.
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease
Juge, P. A., Lee, J. S., Ebstein, E., Furukawa, H., Dobrinskikh, E., Gazal, S., ... & Tsuchiya, N. (2018). MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. New England Journal of Medicine.
Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing
CRyPTIC Consortium and the 100,000 Genomes Project. (2018). Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing. New England Journal of Medicine, 379(15), 1403-1415.

September 2018

“Precision” Public Health—Between Novelty and Hype
Chowkwanyun, M., Bayer, R., & Galea, S. (2018). “Precision” Public Health—Between Novelty and Hype. New England Journal of Medicine.
Essential Role of BRCA2 in Ovarian Development and Function
Weinberg-Shukron, A., Rachmiel, M., Renbaum, P., Gulsuner, S., Walsh, T., Lobel, O., ... & Shore, T. (2018). Essential Role of BRCA2 in Ovarian Development and Function. New England Journal of Medicine, 379(11), 1042-1049.
High-Risk Clonal Hematopoiesis as the Origin of AITL and NPM1-Mutated AML
Tiacci, E., Venanzi, A., Ascani, S., Marra, A., Cardinali, V., Martino, G., ... & Falini, B. (2018). High-Risk Clonal Hematopoiesis as the Origin of AITL and NPM1-Mutated AML. The New England journal of medicine, 379(10), 981.
Systemic AA Amyloidosis Caused by Inflammatory Hepatocellular Adenoma
Calderaro, J., Letouzé, E., Bayard, Q., Boulai, A., Renault, V., Deleuze, J. F., ... & Moutschen, M. (2018). Systemic AA Amyloidosis Caused by Inflammatory Hepatocellular Adenoma. The New England journal of medicine, 379(12), 1178.
Unveiling the RNA World
Lieberman, J. (2018). Unveiling the RNA World. New England Journal of Medicine.
Antibody-Mediated Rejection of Solid-Organ Allografts
Loupy, A., & Lefaucheur, C. (2018). Antibody-Mediated Rejection of Solid-Organ Allografts. New England Journal of Medicine, 379(12), 1150-1160.

August 2018

BRCA1 and BRCA2 Testing in Medically Underserved Medicare Beneficiaries With Breast or Ovarian Cancer
Gross, A. L., Blot, W. J., & Visvanathan, K. (2018). BRCA1 and BRCA2 Testing in Medically Underserved Medicare Beneficiaries With Breast or Ovarian Cancer. JAMA, 320(6), 597-598.
Broad-Based Molecular Testing for Lung Cancer: Precisely the Time for Precision
Bunn, P. A., & Aisner, D. L. (2018). Broad-Based Molecular Testing for Lung Cancer: Precisely the Time for Precision. JAMA, 320(5), 445-446.
Comparison of 2 Treatment Models: Precision Medicine and Preventive Medicine
Psaty, B. M., Dekkers, O. M., & Cooper, R. S. (2018). Comparison of 2 Treatment Models: Precision Medicine and Preventive Medicine. JAMA, 320(8), 751-752.
Emicizumab Prophylaxis in Patients Who Have Hemophilia A without Inhibitors
Mahlangu, J., Oldenburg, J., Paz-Priel, I., Negrier, C., Niggli, M., Mancuso, M. E., ... & Callaghan, M. U. (2018). Emicizumab Prophylaxis in Patients Who Have Hemophilia A without Inhibitors. New England Journal of Medicine, 379(9), 811-822.
Olaparib for metastatic breast cancer in patients with a germline BRCA mutation
Robson, M., Im, S. A., Senkus, E., Xu, B., Domchek, S. M., Masuda, N., ... & Wu, W. (2017). Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. New England Journal of Medicine, 377(6), 523-533.

July 2018

l-Glutamine and the Dawn of Combination Therapy for Sickle Cell Disease
Minniti CP. l-Glutamine and the Dawn of Combination Therapy for Sickle Cell Disease. N Engl J Med. 2018 Jul 19;379(3):292-294. doi: 10.1056/NEJMe1800976. PubMed PMID: 30021091.
A Phase 3 Trial of l-Glutamine in Sickle Cell Disease
Niihara, Y., Miller, S. T., Kanter, J., Lanzkron, S., Smith, W. R., Hsu, L. L., ... & Guillaume, E. (2018). A Phase 3 Trial of l-Glutamine in Sickle Cell Disease. New England Journal of Medicine, 379(3), 226-235.
Gaining on Pain
Emery EC, Wood JN. Gaining on Pain. N Engl J Med. 2018 Aug 2;379(5):485-487. doi: 10.1056/NEJMcibr1803720. PubMed PMID: 30067934.
Chimeric Antigen Receptor Therapy
June CH, Sadelain M. Chimeric Antigen Receptor Therapy. N Engl J Med. 2018 Jul 5;379(1):64-73. doi: 10.1056/NEJMra1706169. Review. PubMed PMID: 29972754.
Sequencing of Circulating Cell-free DNA during Pregnancy
Bianchi DW, Chiu RWK. Sequencing of Circulating Cell-free DNA during Pregnancy. N Engl J Med. 2018 Aug 2;379(5):464-473. doi: 10.1056/NEJMra1705345. PubMed PMID: 30067923.
Tipping Clonal Hematopoiesis into Transformation
Karlsson S. Tipping Clonal Hematopoiesis into Transformation. N Engl J Med. 2018 Jul 19;379(3):295-296. doi: 10.1056/NEJMcibr1803641. PubMed PMID: 30021097.
Update on Keratinocyte Carcinomas
Nehal KS, Bichakjian CK. Update on Keratinocyte Carcinomas. N Engl J Med. 2018 Jul 26;379(4):363-374. doi: 10.1056/NEJMra1708701. PubMed PMID: 30044931.

Genomics & Personalized Medicine

This event is free and open to the public (ID card needed)

Pre-registration required: https://goo.gl/forms/xJNkzmWdJB8lKa6s1

Genomics in the Public Square

Is coffee bad? Not for your mortality!

New research published in JAMA Internal Medicine looks at the inverse relationship between coffee drinking and mortality. In this population-based study, researchers used baseline demographic data to estimate hazard ratios for coffee intake and mortality, and also looked at the potential effect of specific genes which are known to modify caffeine metabolism.

In Association of Coffee Drinking With Mortality by Genetic Variation in Caffeine Metabolism: Findings From the UK Biobank, Lotfield, Cornelis, and Caporaso seek to answer the question:

"Moderate coffee consumption has been inversely associated with mortality; however, does heavy intake, particularly among those with common genetic polymorphisms that impair caffeine metabolism, increase risk of mortality?"

To understand their research and find an interesting example of population-based genetic research, read the full article - and and enjoy your favorite caffeine beverage guilt-free while you read!

To learn more about these issues and other genetics topics, participate in the SMHS’s online Genetics Journal Club.

Image citation: Foong, C. (2012). coffee [Online image]. Available at https://www.flickr.com/photos/cherylfoong/8249906174

Is precision public health a good idea - or even possible?

Is precision public health a good idea - or even possible?

An article recently published in the New England Journal of Medicine explores the inherent tension between public health and precision medicine as public health has worked to improve the health of populations and precision medicine seeks to improve the health of individuals via their unique genome. In “Precision” Public Health — Between Novelty and Hype, Merlin Chowkwanyun, Ronald Bayer, and Sandro Galea explore what precision medicine might mean for public health and ask:

What does a shift toward precision medicine mean for public health?
Will precision public health provide an opportunity reenvision and empower public health or is it an abandonment of public health’s core aim of enhancing health at a population level?
How will public health integrate individual genome specific data and interventions with its broader mission?