Ann Seman, MS, CGC
- Director of Clinical Education
- Assistant Professor
- Genetic Counseling
Ann Seman, MS, CGC is Assistant Professor in the School of Health and Rehabilitation Sciences and Director of Clinical Education for the Master of Science in Genetic Counseling Program at the MGH Institute of Health Professions. As the Director of Clinical Education, Ann teaches Fieldwork I and II, coordinates genetic counseling standardized patient encounters at the IMPACT Practice Center, and coordinates observations and participatory clinical and nonclinical rotations. She enjoys sharing with students how to put together the components of a genetic counseling session, encouraging and witnessing their growth over the course of the program, and welcoming their insights into the counseling process. She feels that learning from the students is just as important as teaching them. Ann also instructs the Embryology and Teratology team-based learning course, where she thrives on the challenge of how to break down and teach the complex concept of the development of each organ system in a way that is relatable to the needs of a genetic counselor. Additionally, Ann participates in the Capstone-related portion of the program by serving on student research committees particularly those focused on pediatrics, laboratory, education, and/or JEDI.
In line with the mission of the IHP, Ann believes in the importance of service and giving back to one's profession. She serves as an Equity Advocate on the School of Nursing Search Committee and is a member of the Program Review Committee for the Accreditation Council for Genetic Counseling. She also is a member of the Philanthropic Education Organization (P.E.O.), which supports women's education through loans, grants, scholarships, awards, and stewardship of Cottey College.
March 2016. Mosaicism for SRY-Positive Y Chromosome in Karyotype and Chromosomal Microarray Analysis in a Female with Turner syndrome Presentation, Poster Presentation, ACMG Annual Clinical Genetics Meeting, Tampa, FL
Oct 2015. UPD1 in a Child with Multiple Congenital Anomalies, Poster Presentation, ASHG Annual Meeting, Baltimore, MD
Feb 2012. FAQ on CMA: Update on Chromosomal Microarray Testing for Neurology, Neurology staff meeting, Boston Children’s Hospital, Boston, MA
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB. Heterozygous variants in KDM4B lead to global developmental delay and neuroanatomical defects. Am J Hum Genet. 107(6):1170-1177. (Dec. 2020)
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 28(10):1422-1431. (Oct. 2020)
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 143(1):55-68. (Jan. 2020)
Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, and Stoler JM. Novel loss-of-function variants in DIAPH1 are associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A. 170A(2):435-440. (Feb. 2016)
Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, and Shen Y. Chromosomal microarray testing for patients with congenital heart defects reveals novel disease-causing loci and high diagnostic yield. BMC Genomics. 15:1127. (Dec. 2014)