Samantha Schilit, M.A.



Program in Biological and Biomedical Sciences, Harvard Medical School
Certificate Program in Leder Human Biology and Translational Medicine (LHBTM)
Program in Genetics and Genomics (PGG)




Sam joined the Morton Laboratory as a graduate student in June 2015. She completed her bachelor’s and master’s degrees in Molecular Biology and Biochemistry at Wesleyan University, where she developed a research project exploring the function of Hho1, the histone H1 homolog in budding yeast. After graduation, she taught biology to undergraduates at the Asian University for Women in Chittagong, Bangladesh. Sam started her PhD training at Harvard Medical School in the Biological and Biomedical Sciences Program in 2012. As a National Science Foundation Graduate Research Fellow, she joined Dr. Jesse Gray’s lab to study transcription factors important for neuronal activity-dependent transcription. To pursue more focused research in clinical genetics, Sam switched to Dr. Cynthia Morton’s lab in 2015.

Her current research focuses on identifying novel genes disrupted or dysregulated in patients with unexplained infertility and a balanced chromosomal anomaly (BCA). Her dissertation work uses the Developmental Genome Anatomy Project (DGAP) infrastructure to identify genetic etiologies underlying infertility in these patients. Her work has uncovered a meiotic gene that may cause oligo/azoospermia (low sperm count) when dysregulated. Under a National Research Service Award (NRSA) Individual Predoctoral Fellowship (F31), Sam is using patient cell line, yeast and mouse models to test the hypothesis that this genetic mutation leads to meiotic defects and subsequent impaired spermatogenesis. In addition to identifying an etiology for an individual case, Sam’s work broadly demonstrates the importance of considering genes near the breakpoints for patients with BCAs as the cause of infertility in addition to the production of unbalanced gametes.

Sam’s passion for clinical genetics extends beyond the bench. In a recent independent project, Sam and her identical twin sister, Arielle Schilit Nitenson, explored issues of genetic privacy and ownership in the field. Sam received one of the first clinical whole genome sequencing tests available to ostensibly healthy adults, which did not require any disclosure of her monozygosity or informed consent from her sister. Sam and Arielle described the ethical dilemmas they faced in the Journal of Genetic Counseling (JoGC) article “My Identical Twin Sequenced our Genome.” Their findings, which advocate for resources to inform and protect vulnerable relatives of the genetic test recipient, have gained widespread attention in both the genetics community and the general public through academic commentaries, JoGC‘s continuing education (CEU) quiz program, media coverage, invited talks and workshops. Sam continues to inform genetics education by disseminating classroom materials to teachers. She has since founded The Patient Genome Project, a venue for other genetic test recipients to contribute their stories to a book that will ultimately serve as a resource for prospective and current patients. Sam hopes to pursue a career in clinical genetics, with a focus on diagnosing and counseling patients with genetic disorders.

Sam is a member of the Program in Genetics and Genomics as well as the Leder Human Biology and Translational Medicine Program, for which she has served on the steering committee. She is an affiliate of the Personal Genetics Education Project (pgEd) and a former member of the Program in Biological and Biomedical Sciences admissions committee. In her free time, Sam coaches and paddles for the Harvard Dragon Boat team, rows for the Dudley House Rowing team, volunteers as a camp counselor for children with cancer through Camp Casco, and spends time with her kitten, Sgt. Pepper.



  • Schilit SLP and Morton CC. 3C-PCR: A Novel Proximity Ligation-Based Approach to Phase Chromosomal Rearrangement Breakpoints with Distal Allelic Variants. Hum Genet. 2017 Dec 1. doi: 10.1007/s00439-017-1853-0. [Epub ahead of print]
  • Schilit SLP^ and Schilit Nitenson A. My Identical Twin Sequenced Our Genome. J Genet Couns. 2017 Apr;26(2):276-278. doi: 10.1007/s10897-016-0046-7. Epub 2016 Nov 16. (^corresponding author)
  •  Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM… Schilit SLP (111/137)… Morton CC, Gusella JF and Talkowski ME. The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Congenital Anomalies. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.
  • Schilit SLP*, Currall BB*, Yao R, Hanscom C, Collins RL, Pillalamarri V, Lee DY, Kammin T, Zepeda-Mendoza CJ, Mononen T, Nolan LS, Gusella JF, Talkowski ME, Shen J and Morton CC. Estrogen-Related Receptor Gamma (ESRRG) Implicated in a Phenotype Including Hearing Loss and Mild Developmental Delay. Eur J Hum Genet. 2016 Nov;24(11):1622-1626. doi: 10.1038/ejhg.2016.64. Epub 2016 Jul 6. (*co-first authors)
  • Schilit SLP*^, Ohtsuka M*, Quadros RM and Gurumurthy CB^. Pronuclear Injection-Based Targeted Transgenesis. Curr Protoc Hum Genet. 2016 Oct 11; 91:15.10.1-15.10.28. doi: 10.1002/cphg.23. (*co-first authors; ^co-corresponding authors)
  • Gurumurthy CB, Grati M, Ohtsuka M, Schilit SLP, Quadros RM and Liu XZ. CRISPR: a Versatile Tool for both Forward and Reverse Genetics Research. Hum Genet. 2016 Sep;135(9):971-6. doi: 10.1007/s00439-016-1704-4. Epub 2016 Jul 7.




Pubmed Bibliography


Master’s Dissertation: The Role of Histone H1 and Its Interaction with the Nucleosome in Saccharomyces cerevisiae



Commentary: “My Identical Twin Sequenced Our Genome” Genetic counselors Sabrina Suckiel and Randi Zinberg published a commentary on Sam’s article “My Identical Twin Sequenced our Genome.” Suckiel, SA and Zinberg, RE. Commentary: “My Identical Twin Sequenced Our Genome.” J Genet Couns. 2017 Apr;26(2):281-282. doi: 10.1007/s10897-016-0055-6. Epub 2017 Jan 26.

Commentary to “My Identical Twin Sequenced Our Genome”: Cautionary Genomics Dr. Wylie Burke published a commentary on Sam’s article “My Identical Twin Sequenced our Genome.” Burke WJ. Commentary to “My Identical Twin Sequenced Our Genome”: Cautionary Genomics. J Genet Couns. 2017 Apr;26(2):279-280. doi: 10.1007/s10897-016-0054-7. Epub 2016 Dec 20.

Guest Post: Whose Genes are they Anyway? Dr. Kat Arney reviewed Sam’s article “My Identical Twin Sequenced Our Genome” in the context of data privacy and security as a guest post in Naked Security by Sophos.

Do your Family Members Have a Right to your Genetic Code? Sam’s published article “My Identical Twin Sequenced our Genome” was featured in the MIT Technology Review.

Who Owns a Twin’s Genetic Information? Best DNA tests highlighted the findings from Sam’s article “My Identical Twin Sequenced our Genome.”

New Case Report Published in EJHG The unique methods used in Sam’s published article “Estrogen-Related Receptor Gamma (ESRRG) Implicated in a Phenotype Including Hearing Loss and Mild Developmental Delay” were described by Ryan Collins in his Scholars at Harvard blog.

Alumni in Science: Samantha Schilit ’10 MA’11 Sam was featured in an article from Wesleyan University about her graduate school research and her National Science Foundation Graduate Research Fellowship.