Susan D Fernbach, B.A., R.N.
Susan D Fernbach, B.A., R.N.
Co-Director Office of Community Engagement and Diversity, Assistant Professor
- Co-Director Office of Community Engagement and Diversity, Assistant Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas United States
- Baylor College of Medicine (Office)
Houston, TX 77030
- BSN from Texas Woman's University
- 05/1979 - Houston, Texas United States
- BA from University of Texas
- 12/1977 - Austin, Texas United States
- Nursing Licensure
- #250148 (08/30/2019 - 08/30/2021)
- Board of Nursing
Professional StatementI 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.
Includes current and past seminar listings as well as slides, videos.
- 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
- Buffone GJ, Spence JE, Fernbach SD, Curry MR, O'Brien WE, Beaudet AL "Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared.." Clin. Chem.. 1988 May;34(5):933-7. Pubmed PMID: 2897257
- Spence JE, Buffone GJ, Rosenbloom CL, Fernbach SD, Curry MR, Carpenter RJ, Ledbetter DH, O'Brien WE, Beaudet AL "Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.." Hum. Genet.. 1987 May;76(1):41404. Pubmed PMID: 3471704
- Feldman GL, Lewiston N, Fernbach SD, O'Brien WE, Williamson R, Wainwright BJ, Beaudet AL "Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk.." Am. J. Med. Genet.. 1989 Jun;33(2):238-41. Pubmed PMID: 2569827
- Spence JE, Maddalena A, O'Brien WE, Fernbach SD, Batshaw ML, Leonard CO, Beaudet AL "Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency.." J. Pediatr.. 1989 Apr;114(4):582-8. Pubmed PMID: 2564432
- Lemna WK, Feldman GL, Kerem B, Fernbach SD, Zevkovich EP, O'Brien WE, Riordan JR, Collins FS, Tsui LC, Beaudet AL "Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.." N. Engl. J. Med.. 1990 Feb 1;322(5):291-6. Pubmed PMID: 2296270
- Beaudet AL, Feldman GL, Kobayashi K, Lemna WK, Fernbach SD, Knowles MR, Boucher RC, O'Brien WE "Mutation analysis for cystic fibrosis in a North American population.." Adv. Exp. Med. Biol.. 1991;290:53-4. Pubmed PMID: 1950757
- Fernbach SD, Thomson EJ "Molecular genetic technology in cystic fibrosis: implications for nursing practice.." J Pediatr Nurs. 1992 Feb;7(1):20-5. Pubmed PMID: 1548558
- Beaudet AL, Feldman GL, Fernbach SD, Buffone GJ, O'Brien WE "Linkage disequilibrium, cystic fibrosis, and genetic counseling.." Am. J. Hum. Genet.. 1989 Mar;44(3):319-26. Pubmed PMID: 2916578
- McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW "Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).." Eur. J. Hum. Genet.. 2009 Jun;17(6):811-9. Pubmed PMID: 19142209
- McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW "Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.." Am. J. Med. Genet. A. 2005 Apr 15;134(2):180-6. Pubmed PMID: 15690347
- Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM "Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.." Hum. Mol. Genet.. 2009 Mar 1;18(5):861-71. Pubmed PMID: 19064609
- Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW "Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.." Am. J. Hum. Genet.. 2004 Jan;74(1):93-105. Pubmed PMID: 14681828
- Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, Smith EO, Towbin JA "Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.." Circulation. 2005 Nov 1;112(18):2799-804. Pubmed PMID: 16246949
- Lewin MB, McBride KL, Pignatelli R, Fernbach S, Combes A, Menesses A, Lam W, Bezold LI, Kaplan N, Towbin JA, Belmont JW "Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.." Pediatrics. 2004 Sep;114(3):691-6. Pubmed PMID: 15342840
- Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM "Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.." Hum. Mol. Genet.. 2009 Jun 1;18(11):1909-23. Pubmed PMID: 19279158
- Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, Grenier M, Kertesz NJ, Clunie SK, Fernbach SD, Southern JF, Berger S, Towbin JA, Bowles KR, Bowles NE "Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.." Circulation. 2005 Sep 13;112(11):1612-7. Pubmed PMID: 16144992
- Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H "Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.." Pediatrics. 2004 Oct;114(4):925-31. Pubmed PMID: 15466086
- Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA "Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.." Circulation. 2003 Nov 25;108(21):2672-8. Pubmed PMID: 14623814
- McBride KL, Zender GA, Fitzgerald-Butt SM, Seagraves NJ, Fernbach SD, Zapata G, Lewin M, Towbin JA, Belmont JW "Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.." Birth Defects Res. Part A Clin. Mol. Teratol.. 2011 Mar;91(3):162-8. Pubmed PMID: 21290564
- McBride KL, Fernbach S, Menesses A, Molinari L, Quay E, Pignatelli R, Towbin JA, Belmont JW "A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.." Birth Defects Res. Part A Clin. Mol. Teratol.. 2004 Oct;70(10):825-30. Pubmed PMID: 15390319
- Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW "Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.." Am. J. Med. Genet. A. 2003 Apr 30;118(3):260-6. Pubmed PMID: 12673657
- “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.
- Susan Fernbach
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