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Clinical & Medical Advisory Board

 

The Medical Advisory Board was established to support the foundation and its patients and families.  It serves as a liaison between the BOS Foundation and the medical community.  The role of the board is primarily advisory, however, they may engage in other activities that promote awareness and advocacy on behalf of the Foundation and the community it supports. 

The Medical Advisory Board does not make decisions for the BOS Foundation, however their recommendations, especially those medical in nature, are highly valued.

Members of the Clinical & Medical Advisory Board serve a two-year term that maybe extended up to six consecutive years. 

Carrie Hunsucker(carrie@bos-foundation.org), Clinical & Medical Advisory Board


Clinical & Medical Advisory Board Members

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.  Click here to read more. 

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.  Click here to read more. 

Juan Young, PhD

Dr. Juan Young is a researcher and associate professor in the Department of Human Genetics at the University of Miami.  Click here to read more. 

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. Click here to read more. 

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. Click here to read more. 


Medical Articles 

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:

https://www.ncbi.nlm.nih.gov/books/NBK481833/

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.

Read the article here: 

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37131/abstract 

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: 

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37342/abstract

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.

Read the article here: 

http://www.nature.com/ejhg/journal/v19/n5/full/ejhg2010234a.html

For a comprehensive list of all literature about BOS, please visit:

 https://bohring-opitz.org/bosasxl1/resources/medical-publications/


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.

Click here to find out more and join the BOS Patient Registy