BIANCA RUSSELL, MD
Dr. Bianca Russell received her bachelors degree from Connecticut College in New London, Connecticut in 2008 and her medical degree from the University of California, Irvine in 2013. She is currently a third year Pediatrics and Human Genetics resident at the Cincinnati Children's Hospital in Cincinnati, Ohio with an expected graduation date in 2018. She has focused her career and research on clinical genetics with a particular interest in the management of genetic conditions including Bohring-Opitz Syndrome.
WEN-HANN TAN, MD
Dr. Wen-Hann Tan a clinical geneticist at Boston Children's Hospital with an interest in diagnosis and management of rare genetic syndromes, including pediatric cancer predisposition syndromes, vascular malformations, and other unusual clinical findings. He has also been actively involved in a longitudinal natural history study and various clinical trials in Angelman syndrome, which is a rare neurodevelopmental disorder.
JUAN YOUNG, PHD
Dr. Juan Young is a researcher and associate professor in the Department of Human Genetics at the University of Miami. He co-directs the Center for Molecular Genetics, where he studies genetic mutation in mice models. He studied Rett Syndrome extensively, as well as 2q23.1 Microdeletion Syndrome. He is currently working on creating mice models with Bohring-Opitz Syndrome, in order to better understand treatment methods in the future.
SAMANTHA VERGANO, MD
Dr. Schrier Vergano is the Division Director of Medical Genetics and Metabolism at The Children’s Hospital of The King’s Daughters in Norfolk, VA. She received her medical degree from Eastern Virginia Medical School in Norfolk, VA. She completed her pediatric residency at Morristown Medical Center/Atlantic Health in Northern NJ and a medical genetics fellowship at the Children’s Hospital of Philadelphia in Philadelphia, PA. Her primary research interests include Coffin-Siris syndrome, and the utilization of electronic medical tools for improving detection of infants with hyperammonemia.
BEN HELM, CGC
Benjamin Helm, MS, CGC, is a certified genetic counselor currently specializing in cardiovascular genetics, however he has significant experience working with patients and families with rare genetic diseases. Rare diseases are an active interest for him, and he continues to work with advocacy and support groups in his spare time. He helps families navigate the genetic testing process, has provided genetic counseling for rare disorders, advocates for families, and provides psychosocial support to patients and families throughout the process. Ben developed an interest in Bohring-Opitz syndrome after working with a family in his previous work in Virginia. He hopes to help raise awareness and motivate research for rare genetic conditions, and he also hopes to help shed light on the integral role of genetic counselors in this area.
OMAR ABDEL-WAHAB, MD
Dr. Omar Abdel-Wahab is a hematologist/oncologist and Assistant Attending Physician on the Leukemia Service at Memorial Sloan-Kettering Cancer Center. His laboratory focuses on the functional understanding of genetic alterations in patients with chronic myeloid and lymphoid leukemias. One of his main areas of interest is in understanding the role of mutations in the ASXL1 gene and other ASXL family members in cancer and developmental disorders such as Bohring-Opitz Syndrome. His work is currently funded by the Leukemia & Lymphoma Society, the American Society of Hematology, the Evans Foundation for MDS Research, the Damon Runyon Foundation, the V Foundation, the Histiocytosis Foundation, the Hairy Cell Leukemia Foundation, the Erdheim-Chester Disease Global Alliance, and the National Institute of Health.
FENG-CHUN YANG, MD, PHD
Dr. Yang is an established investigator in the field of stem cell biology and myeloid malignancies. She is a Professor of Biochemistry and Molecular Biology at the University of Miami, where her area of research is in molecular mechanisms involved in Genetic Disease and Cancer. Dr. Yang has been studying the cellular and molecular mechanisms underlying the pathogenesis of BOS and myeloid malignancies. The ultimate goal of her research is to identify novel therapeutic targets and to develop rational therapies to treat myeloid malignancies and BOS. She has authored over 90 peer-reviewed papers in the field of research and is a member of several professional societies. Dr. Yang also serves on the review boards for numerous professional journals and funding agencies.
Join the BOS Registry
Patients and families (including angels) with BOS or mutations in ASXL genes are enrolled in our study which is approved by the hospital ethics committees. Parents complete simple questionnaires online about their child’s medical history and may submit photographs as well as test results and notes from their physicians. The information is kept on a secure server. Identified information can only be accessed by the researchers in charge of the study. Deidentified content may be available to other researchers, members of the registry advisory board, and the study participants.
A parent with a new BOS diagnosis, or a family member trying to learn more about the disorder can be overwhelmed by the medical literature about BOS. The literature is written in medical jargon and may be hard to understand. We polled our medical advisors for their top selections on the best articles for those new to the syndrome. Here’s what they suggested:
Russell B, Tan WH, Graham JM Jr. Bohring-Opitz Syndrome. 2018 Feb 15. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
Read the article here:
Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan W-H, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SAS, Helm BM, Harrison RE, Graham Jr. JM. 2015. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet Part A 167A:2122–2131.
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Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K. 2015. Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. Am J Med Genet Part A 167A:3161–3166.
Read the article here:
Hastings, Rob; Cobben, Jan-Maarten; Gillessen-Kaesbach, Gabriele; Goodship, Judith; Hove, Hanne; Kjaergaard, Susanne; Kemp, Helena; Kingston, Helen; Lunt, Peter; Mansour, Sahar; McGowan,Ruth; Metcalfe, Kay; Murdoch-Davis, Catherine; Ray,Mary; Rio,Marle`ne; Smithson, Sarah; Tolmie, John; Turnpenny, Peter; van Bon, Bregje; Wieczorek, Dagmar; Newbury-Ecob, Ruth. 2011. Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. European Journal of Human Genetics.
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For a comprehensive list of all literature about BOS, please visit: