FrancesDoughertyKendallMD

Clinical Biochemical Genetics, Clinical Genetics, Pediatric Medical Genetics

Clinical Biochemical Geneticist focused on mitochondrial disorders, ehlers-danlos syndrome (EDS) & connective tissue disorders, mystery multi-system involved cases, metabolic and inborn errors of metabolism. Evaluation, diagnosis, ongoing management, and genetic testing (nuclear gene sequencing, next gen sequencing, WES (whole exome sequencing) & WGS (whole genome sequencing)).

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Office
mail - 5579 Chamblee Dunwoody Rd
Ste 110
Atlanta, GA 30338
Phone+1 404-793-7800

Fax+1 866-744-5665
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Summary

I am a Harvard trained Board certified Clinical Biochemical Geneticist with a 25+ year career specialized in Metabolic, Mitochondrial, Connective Tissue, and Inherited Disorders that serves both children and adults patients. My practice, VMP (Virtual Medical Practice) pioneered telemedicine in rare genetics over a decade ago and is strictly a clinical practice with no laboratory affiliation or financial incentive in the tests that may be ordered. While I see 80% of my patients in office, roughly 20% are seen remotely worldwide - from Eastern Europe to Hong Kong. I started the first of it's kind mitochondrial disease program in the US and that spirit continues as I am often involved with the latest developments in the field due to being the only independent practice focused on these disorders. I sit on the Medical Advisory Board of foundations, authored numerous articles and publications, guest lecturer at medical schools and nursing schools, frequent guest speaker at international medical conferences, expert witness on state and federal legal cases, and I have appeared on national news to offer expert opinion.

www.VMPGenetics.com

Extensive website on the full practice - Direct Patient Care, Physician Support Services for hospitals, and Education for industry to healthcare professionals.

Education & Training

Children's HospitalFellowship, Clinical Biochemical Genetics, 1993
Sidney Kimmel Medical College at Thomas Jefferson University1990
Sidney Kimmel Medical College at Thomas Jefferson University1987 - 1988
Rutgers New Jersey Medical SchoolClass of 1987

Certifications & Licensure

GA State Medical License 1997 - 2025
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics

Awards, Honors, & Recognition

Making a Difference in Mitochondrial Medicine MitoAction.org, 2012

Clinical Trials

EPI-743 for Mitochondrial Respiratory Chain Diseases
No longer available
EPI-743 for Metabolism or Mitochondrial Disorders Start of enrollment: 2012 Sep 01
Completed
Phase 1, Phase 2
Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study Start of enrollment: 2016 Aug 22
Completed
Phase 2
Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) Start of enrollment: 2016 Dec 01
Terminated
Phase 2
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Publications & Presentations

PubMed

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management.
Parikh S Goldstein A Koenig MK Scaglia F Enns GM Saneto R> ;Mitochondrion. 2013 Nov
14 citations
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy M...> ;Genetics in Medicine. 2016 Nov 1
43 citations
De novo mutations in PURA are associated with hypotonia and developmental delay
Akemi J. Tanaka, Renkui Bai, Megan T. Cho, Kwame Anyane-Yeboa, Priyanka Ahimaz, Ashley Wilson, Fran Kendall, Beverly N. Hay, Timothy J. Moss, Monica Nardini, Mislen Ba...> ;Cold Spring Harbor Molecular Case Studies. 2015 Oct 1
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Wightman, P. J., Santer, R., Ribes, A., Dougherty, F., McGill, N., Thorburn, D. R., FitzPatrick, D. R.> ;Hum Mutat. 2003 Oct
Metabolic testing in mitochondrial disease.
Dougherty, F. E.> ;Semin Neurol. 2001 Sep
Rod photoreceptor function in children with mitochondrial disorders.
Cooper, L. L., Hansen, R. M., Darras, B. T., Korson, M., Dougherty, F. E., Shoffner, J. M., Fulton, A. B.> ;Arch Ophthalmol. 2002 Aug
30 citations
Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse,...> ;Mitochondrion. 2014 Jan 1
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Pervaiz MA Kendal F Hegde M Singh RH> ;Indian J Hum Genet. 2011 Jan
Spectrum of phenotypic variability in Niemann-Pick type C disease: A cause of delayed diagnosis.
Prasad, C., Pushpanathan, C., Morris, R., Davis, A., Dougherty, F.> ;Paediatr Child Health. 1998 Sep
Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis.
Hochman, J. A., Treem, W. R., Dougherty, F., Bentley, R. C.> ;J Inherit Metab Dis. 2001 Oct
Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
Dougherty, F. E., Ernst, S. G., Aprille, J. R.> ;J Pediatr. 1994 Nov
Neonatal renal abscess caused by Staphylococcus aureus.
Dougherty, F. E., Gottlieb, R. P., Gross, G. W., Denison, M. R.> ;Pediatr Infect Dis J. 1991 Jun
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Journal Articles

Bridging the Gap between ASD and Mitochondrial Disease
Kendall, Fran D, Autism Science Digest
Mitochondrial disorders: Overview of diagnostic tools and new diagnostic trends
Kendall, Fran D, Journal of Pediatric Biochemistry

Books/Book Chapters

Medical Care for Children and Adults with Developmental Disabilities
Chapter: Muccopolysaccharidoses
Page 119 - 126Dougherty Kendall, F, Cox GEditors: I. Rubin M.D, Allen Crocker M.D..

Abstracts/Posters

Next Generation Sequencing of the Mitochondrial Genome
Sheldon, Kate, Tarnopolsky, Mark, Trifiletti, Rosario, Kendall, Fran, McKernan, Kevin, Zare, Amir, Boles Richard, ACMG meeting
Next Generation Sequencing of a Thousand Nuclear Mitochondrial Genes
Boles, Richard, Trifiletti, Rosario, Tarnapolsky, Mark, Kendall, Fran, McKernan, Kevin, Zare, Amir, Griesbach, Audry, Sheldon, Kate, ACMG meeting
Clustering of mutations in a North American Series Supports a Dominant-Negative Mechanism of KCNQ2 Encephalopathy
Cooper, Edward C; Carmant, Lionel; Flamini, Robert; Kendall, Fran D. Levisohn, Paul M.; Millichap, John J; Ortiz-Gonzalez, Xilma R.; Park, Kristen; Porter, Brenda E.; ..., AAN meeting
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with VLCADD
Pervaiz M.A., Kendall F, Singh R, International Congress of Inborn Errors of Metabolism
Fibroblast butyryl-carnitine accumulation in an infant with putative ethylmalonic encephalopathy
Rhead W, Flannery D, Kendall, F, SIMD meeting
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Lectures

Direct to Consumer Testing – Power & Pitfalls
MitoAction monthly Podcast - 4/1/2019
Mitochondrial Disease and Autism
Talk About Curing Autism (TACA) Georgia Autism Conference, Cumming, GA - 2/1/2018
Is it really Mitochondrial Disease?
MitoAction monthly Podcast - 2/1/2018
Mitochondrial Disease and Its Association with Autistic Spectrum Disorders
US Autism & Asperger Association International Conference. Colorado Springs, CO - 5/1/2017
Experience of Cannabinoid Oil Use in Mitochondrial Patients
US Autism & Asperger Association International Conference. Chicago, IL - 5/1/2016
Synopsis of Advancements in Mitochondrial Medicine and GI Complications in Mitochondrial Disease, UMDF Mini-symposium
New Orleans, LA - 12/5/2015
GI Complications in Mitochondrial Disease, UMDF annual international symposium
Washington, DC - 6/15/2015
Mitochondrial Overview, Grand Rounds University of Kansas Medical Center
Kansas City, KS - 6/1/2015
Cannabis Oil to Treat Mitochondrial Disease
Mitoaction monthly Podcast - 5/15/2015
Importance of Correct Diagnosis in Mitochondrial Disease with Case Studies
GeneDx Laboratories, Gaithersburg, MD - 5/1/2015
Mitochondrial Disease: Screening, Evaluation, and the Role of the Primary Care Physician
MitoAction Clinical Conference, Atlanta, GA - 3/1/2015
Mitochondrial Disease: Its clinical presentation, diagnosis, treatment, and association with autism
University of Georgia, Athens, GA - 2/1/2015
Overview of Mitochondrial Disease
Georgia Association of School Nurses Annual Conference, UGA, Athens, GA - 7/14/2014
Nuts and Bolts of Mitochondrial Disease
MitoAction Medical Conference, Boston, MA - 5/2014
GI Complications of Mitochondrial Disease
American Society for Parenteral & Enteral Nutrition (A.S.P.E.N.) int'l conference. Savannah, GA - 2/2014
Mitochondrial Disorders
Philadelphia College of Osteopathic Medicine - 2014
Mitochondrial Disorders
Emory University - Nell Hodgson Woodruff School of Nursing - 2014
Overview of Mitochondrial Disease and Its Association with Autistic Spectrum Disorders
US Autism & Asperger Association International Conference. Salt Lake City, UT - 8/2013
Pain management for mitochondrial disease
UMDF annual international symposium. Bethesda, MD - 6/2012
Mito-Autism: Information for parents and clinicians
MitoAction Online - http://www.mitoaction.org/blog/mito-autism-information-parents-and-clinicians - 7/8/2011
Bridging the Gap Between ASD and Mitochondrial Disease
AutismOne International Conference. Chicago, IL - 5/2011
Muscle Biopsy Testing for Mitochondrial Disease
MitoAction Online - http://www.mitoaction.org/blog/muscle-biopsy-testing-mitochondrial-disease - 7/6/2010
Mitochondrial Disorders: An overview
FOD/OAA annual meeting. Atlanta, GA - 7/2010
CoQ10 and Creatine in mitochondrial disorders
MitoAction Online: www.mitoaction.org/blog/the-dosing-debate-coq10-and-creatine-mitochondrial - 8/7/2008
Adult presentation of Fatty Acid Oxidation Defects
Northside Hospital, Atlanta, GA - 11/2006
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Authored Content

Direct to Consumer Genetic Testing PodcastApril 2019
Is It Really Mito? PodcastFebruary 2018
Unusual Cases - why the help of a true specialist in rare genetics is so importantAugust 2017
Mitochondrial Disease Interview at AutismOneSeptember 2016
History of GeneticsMay 2016
It's All In The GenesMarch 2016
Mitochondrial Disease: the damaging rhetoric of NBC & HollywoodFebruary 2016
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Committees

Professional Representative, United Mitochondrial Disease Foundation Regional Champion 2010 - Present
Member, MitoAction Medical Advisory Board 2009 - Present