The following top (2) articles are a direct result of new genetic findings thanks to Ear Community’s collaborative research with Harvard, Vanderbilt, MIT – the Broad Institute, the NIH and the Gabriella Miller Kids First Foundation. Ear Community championed this research to find the answers our community was looking for. As a result, we have discovered new information about what causes Microtia and Atresia and Craniofacial Microsomia.
The following is a presentation by Dr. Jon Siedman (Seidman Labs) at Harvard presenting on our genetics research. Dr. Seidman’s presentation begins at 17:08.
“Damaging Variants in FOXI3 Cause Microtia and Craniofacial Microsomia,” published by Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics, through Elsevier, and can be found here. Published on October 19th, 2022. The answers from this research for our community would not be possible without the efforts and dedication of the following authors and all contributors:
Authors include: Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman and Christine E. Seidman.
For a sharable link, please click here.
Click on the below pdf link for the abstract:
1-s2.0-S1098360022009418-main
“An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations,” published by the Proceedings of the National Academy of Sciences (PNAS)can be found here. The answers from this research for our community would not be possible without the efforts and dedication of the following authors and all contributors noted. Published on May 18, 2022 online at: www.pnas.org
DOI number 10.1073/pnas.2203928119
Authors include: Daniel Quiat, Seong Won Kim, Qi Zhang, Sarah U. Morton , Alexandre C. Pereira , Steven R. DePalma , Jon A. L. Willcox, Barbara McDonough , Daniel M. DeLaughter, Joshua M. Gorham, Justin J. Curran, Melissa Tumblin, Yamileth Nicolau, Maria A. Artunduaga, Lourdes Quintanilla-Dieck, Gabriel Osorno, Luis Serrano, Usama Hamdan, Roland D. Eavey, Christine E. Seidman, and J. G. Seidman.
Contributed by J. G. Seidman; received March 7, 2022; accepted April 12, 2022; reviewed by Jonathan Haines and Bernice Morrow.
Click on the below pdf link for full paper:
pnas.2203928119
Below are research articles, abstracts and posters where Ear Community is a contributing author:
“A Conceptual Thematic Framework of Psychological Adjustment in Caregivers of Children with Craniofacial Microsomia”
Published in the Cleft Palate Craniofacial Journal on April 8, 2024
Link to article:https://journals.sagepub.com/doi/10.1177/10556656241245284
Heike, C. L., Costa, B., Birgfeld, C., Crerand, C., Daniels, K., Drake, A., Evans, K., Feragen, K., Hotton, M., Hsu, A., Johns, A., Koudstaal, M., Magee, L., McKinney, C., McWilliams, D., Mills, A., Schefer, A., Stueckle, L., Stuhaug, E., Tumblin, M., White, P., Stock, N. Poster Presentation. 79th Annual Meeting of the American Cleft Palate-Craniofacial Association. Fort Worth, Texas. April 2022.
“Like Trying to Drink Water from a Fire Hose”: Caregivers’ Experiences of Early Intervention and Healthcare for Craniofacial Microsomia in the Pre-School Years”
Johns, A., McWilliams, D., Costa, B., Russell, C., Crerand, C., Magee, L., Hotton, M., Tumblin, M., Schefer, A., Drake, A., The CARE Team, & Stock, N. Oral Presentation. Cleft 2022, 14th International Congress of Cleft Lip, Palate, and Related Craniofacial Anomalies. Edinburgh, Scotland, UK. July 2022.
Abstract: McKinney, C. M., Daniels, K., Stueckle, L., Evans, K. N., Tumblin, M., Schefer, A., Mills, A., Hsu, A., The CARE Team, & Heike, C. L. Poster Presentation. Cleft 2022, 14th International Congress of Cleft Lip, Palate, and Related Craniofacial Anomalies. Edinburgh, Scotland, UK. July 2022. Also being presented at the ACPA Conference in May of 2023.
McWilliams, D., Johns, A., Russell, C., Costa, B., Crerand, C., Feragen, K., Schefer, A., Tumblin, M., Heike, The CARE Team, & Stock, N. Oral Presentation. Cleft 2022, 14th International Congress of Cleft Lip, Palate, and Related Craniofacial Anomalies. Edinburgh, Scotland, UK. July 2022.
“The CARE Participant Registry” Presentation at the ACPA Conference in Edinburgh, UK in July 2022, contributing author.
On February 26, 2018, the Ear Community Organization was invited to present at the FDA during a listening session about what it is like to live with Microtia and Atresia and the need for 3D printed regenerated ears as another option for reconstructive surgery for our community.
“Integrated microtia and aural atresia management,” published by Frontiers in Surgery at the following link.
The following publication is something that has been needed for decades for microtia and aural atresia – and we finally have it! This document has created the gold standard for the management and care of patients with microtia and atresia! Thank you to the following contributing authors: Dr. Mai Thy Truong, Dr. Yi-Chun Carol Liu, Dr. Jocelyn Kohn, Dr. Sivakumar Chinnadurai, Dr. David Zopf, Melissa Tribble AuD, Paul Tanner, Dr. Kathleen Sie and Dr. Kay Chang for your collaboration and as contributing authors making these guidelines possible!
DOI number at https://doi.org/10.3389/fsurg.2022.944223
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First ever 3D Printed ear transplant
“These Doctors Have Carried Out The First-Ever Successful Transplant of A 3D-Printed Ear”. January 22, 2023. To view article, click here.
Extensive research papers on the epidemiology and gentics of Microtia can be found at the following link through the Vanderbilt University Medical Center’s Microtia and Atresia clinic website: click here. A specific research study that was conducted on twins with Microtia can be searched by the title: Genetic and environmental contributions to congenital external ear malformations and isolated microtia: a classical twin study (Accepted by the New Eng J Med). Authors include Atrunduaga M, Quintanilla-Dieck M de L, Betensky R, Nicolau Y, Hamdan U, Osorno G, Brent B, Eavey RD, Seidman CE, Seidman JG
Microtia: Epidemiology and Genetics can be found here. Authors include Daniela V. Luquetti, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham and Timothy C. Cox. Published on November 21, 2011.
Extensive research papers on craniofacial microsomia (also known as hemifacial microsomia) can be found at the following link through the Seattle Children’s Hospital craniofacial clinic website: click here. Authors include Carrie L. Heike, Daniela V. Luquetti, Kelly Evans, etc…
“Microtia Reconstruction,” through Researchgate here: contributing authors: David A. Zopf, Elizabeth Knecht and Jennifer Kim
Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type
Published on June 17th, 2020
Nuo Si, Xiaolu Meng, Xiaosheng Lu, Zhe Liu, Zhan Qi, Lianquing Wang, Chuan Li, Meirong Yang, Ye Zhang, Changchen Wang, Peipei Guo, Lingdong Zhu, Lei Liu, Zhengyong Li, Zhenyu Zhang, Zhen Cai, Bo Pan, Haiyue Jiang and Xue Zhang.
Journal of Translational Medicine
https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-020-02409-6
Genetic Advances in the Understanding of Microtia
Published on September 23rd, 2016
Guest Editors: Peter J. Taub, MD, FACS, FAAP, and Bryn D. Webb, MD, FACMG
Journal of Pediatric Genetics
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123892/
