Email

fernbach@bcm.edu

Positions

Co-Director Office of Community Engagement and Diversity, Assistant Professor

Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas United States

Addresses

Baylor College of Medicine (Office)

BCM 225
Houston, TX 77030
United States
fernbach@bcm.edu
https://www.bcm.edu/eveninggenetics

Education

BSN from Texas Woman's University

05/1979 - Houston, Texas United States

Nursing

BA from University of Texas

12/1977 - Austin, Texas United States

Spanish

Certifications

Nursing Licensure

#250148 (08/30/2019 - 08/30/2021)

Board of Nursing

Professional Statement

I have been fortunate to be involved in the field of genetics and genomics for many years and my efforts center around enabling families and caregivers to find information in plain language, connecting families with resources and connecting students with information about careers in genetics and genomics. My role as PI on our grant for statewide outreach has enabled inter-professional programs for healthcare providers along with community conferences and webinars. I lead or co-lead annual Rare Disease Day events, the Texas Children’s Hospital Genetic Family Advisory Committee and the From Stress to Strength program, held in English and Spanish for parents/caregivers of children with developmental and intellectual disabilities and autism. This has led to a collaboration with the BCM Transition Medicine Clinic and I am co-PI for a grant from the Ligums Family Foundation.

Forming collaborations has been a major focus of my efforts, leading to successful partnerships with state and local agencies along with parent organizations serving families of children with autism spectrum disorders, developmental disabilities and specific genetic syndromes. Volunteers from local universities and colleges are needed and welcomed at each of these events and my role has grown to include efforts to increase the diversity of medical genetic trainees. Attracting and encouraging greater numbers of diverse trainees, faculty and scientists is of enormous importance to this field. It is with pleasure that I lead a dedicated group of nurses and nurse practitioners in our department as well as serve as a BCM Faculty Inclusion and Equity Ambassador. Each of these endeavors speaks to my interest in access to information, resources and training for our professional community and the families we serve.

Websites

Selected Publications

• Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW "Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.." Am. J. Hum. Genet. 2006 Feb;78(2):303-14. Pubmed PMID: 16400610
• Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JW "SNP genotyping to screen for a common deletion in CHARGE syndrome.." BMC Med. Genet. 2005 Feb 14;6:8. Pubmed PMID: 15710038
• Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW "SEMA3E mutation in a patient with CHARGE syndrome.." J. Med. Genet. 2004 Jul;41(7):e94. Pubmed PMID: 15235037
• Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R "PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.." Hum. Mutat. 2002 Oct;20(4):298-304. Pubmed PMID: 12325025

Funding

“Using a Positive Adult Development Program to Reduce Anxiety, Stress, and Depression in Caregivers of Transition Aged Youth with IDD”.

(10/01/2019 - 09/30/2021) Grant funding from Ligums Family Transition Medicine Grant

To develop a recurring and sustainable workshop series that improves the self-care of caregivers of youth with intellectual and developmental disabilities (IDD) and increases knowledge surrounding transition planning from pediatric to adult healthcare.

Genetic Educational Seminars

(06/21/2018 - 06/30/2022) Grant funding from Texas Department of State Health Services

The goal of this project is to improve health and educational outcomes of individuals with intellectual and developmental disabilities (IDD) and/or genetic diseases and who have economic, educational or social limitations, by providing enhanced access to medical information and resources via seminars, resource fairs and webinars.

Skills

Susan Fernbach

Languages

Spanish