Daniel Driscoll, MD

Daniel J Driscoll, MD, PhD - Research & Publications

(352) 294-5050

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Publications

Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study
American Journal of Medical Genetics Part a
2018

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.
Journal of Medical Genetics
2018

Oxytocin Treatment in Children With Prader-Willi Syndrome: a Double-Blind, Placebo-Controlled, Crossover Study
American Journal of Medical Genetics Part a
2017

Induced Pluripotent Stem Cells (Ipsc) Created From Skin Fibroblasts of Patients With Prader-Willi Syndrome (Pws) Retain the Molecular Signature of Pws
Stem Cell Research
2016

Higher Plasma Orexin a Levels in Children With Prader-Willi Syndrome Compared With Healthy Unrelated Sibling Controls
American Journal of Medical Genetics Part a
2016

Higher Plasma Orexin a Levels in Children With Prader-Willi Syndrome Compared With Healthy Unrelated Sibling Controls
American Journal of Medical Genetics Part a
2016

Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment
Clinical Pediatrics
2016

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications
American Journal of Medical Genetics Part a
2016

Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings
American Journal of Medical Genetics Part a
2016

Laparoscopic Sleeve Gastrectomy in 108 Obese Children and Adolescents Ages 5 To 21 Years By Alqahtani Ar, Antonisamy B, Alamri H, Elahmedi M, Zimmerman Va
Annals of Surgery
2015

Increased Plasma Chemokine Levels in Children With Prader-Willi Syndrome
American Journal of Medical Genetics Part a
2015

Hyperghrelinemia in Prader-Willi Syndrome Begins in Early Infancy Long Before the Onset of Hyperphagia
American Journal of Medical Genetics Part a
2015

High Plasma Neurotensin Levels in Children With Prader-Willi Syndrome
American Journal of Medical Genetics Part a
2015

Growth Charts for Non-Growth Hormone Treated Prader-Willi Syndrome
Pediatrics
2015

Clinical Utility Gene Card For: Angelman Syndrome

2015

Hyperphagia: Current Concepts and Future Directions Proceedings of the 2Nd International Conference On Hyperphagia
Obesity
2014

Clinical Utility Gene Card For: Prader-Willi Syndrome

2014

Loss-Of-Function Mutations in Sim1 Contribute To Obesity and Prader-Willi-Like Features

2013

A Reduced-Energy Intake, Well-Balanced Diet Improves Weight Control in Children With Prader-Willi Syndrome
Journal of Human Nutrition and Dietetics
2013

Unique and Atypical Deletions in Prader-Willi Syndrome Reveal Distinct Phenotypes

2012

Prader-Willi Syndrome

2012

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome
Genetic Testing and Molecular Biomarkers
2012

Letter To the Editor: Long-Term Experience With Duodenal Switch in Adolescents
Obesity Surgery
2012

Nutritional Phases in Prader-Willi Syndrome
American Journal of Medical Genetics Part a
2011

Growth Standards of Infants With Prader-Willi Syndrome
Pediatrics
2011

Carnitine and Coenzyme Q10 Levels in Individuals With Prader-Willi Syndrome
American Journal of Medical Genetics Part a
2011

Prader-Willi and Angelman Syndromes: Genetic Counseling Reply

2010

Epigenetic Regulation of Pericentromeric Heterochromatin During Mammalian Meiosis
Cytogenetic and Genome Research
2010

Clinical and genetic aspects of Angelman syndrome.

2010

Clinical and Genetic Aspects of Angelman Syndrome

2010

Sleep disordered breathing in infants with Prader-Willi syndrome during the first 6 weeks of growth hormone therapy: a pilot study.
Journal of Clinical Sleep Medicine
2009

Sleep Disordered Breathing in Infants With Prader-Willi Syndrome During the First 6 Weeks of Growth Hormone Therapy: a Pilot Study
Journal of Clinical Sleep Medicine
2009

Loss-Of-Function Mutations in Sim1 Cause a Specific Form of Prader-Willi-Like Syndrome

2009

Is Gestation in Prader-Willi Syndrome Affected By the Genetic Subtype?

2009

Imprinting and Childhood Obesity: the Prader-Willi Syndrome Paradigm
Hormone Research
2009

Genomic and Genic Deletions of the Fox Gene Cluster On 16Q24.1 and Inactivating Mutations of Foxf1 Cause Alveolar Capillary Dysplasia and Other Malformations

2009

Genomic and Genic Deletions of the Fox Gene Cluster On 16Q24.1 and Inactivating Mutations of Foxf1 Cause Alveolar Capillary Dysplasia and Other Malformations (Vol 84, Pg 780, 2009)

2009

Early childhood obesity is associated with compromised cerebellar development.
Developmental Neuropsychology
2009

Early Childhood Obesity Is Associated With Compromised Cerebellar Development
Developmental Neuropsychology
2009

Alu-Mediated Deletions and Point Mutations Within the Fox Transcription Factor Gene Cluster On 16Q24.1 Result in Alveolar Capillary Dysplasia/Misalignment of Pulmonary Veins and Multiple Congenital Ma
Chromosome Research
2009

A Novel 16Q24 Microdeletion Syndrome Involving the Fox Transcription Factor Gene Cluster.
Chromosome Research
2009

Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity.
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
2008

Pituitary Abnormalities in Prader-Willi Syndrome and Early Onset Morbid Obesity
American Journal of Medical Genetics Part a
2008

Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity.

2007

Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome.
The Journal of Clinical Endocrinology and Metabolism
2006

Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI.
Journal of Neurology Neurosurgery and Psychiatry
2005

Effects of topiramate in adults with Prader-Willi syndrome.
American Journal of Mental Retardation
2004

Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome.
International Journal of Neuropsychopharmacology
2002

Angelman syndrome: mimicking conditions and phenotypes.
American Journal of Medical Genetics
2001

Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American Journal of Medical Genetics
1998

Research Interests

Research skills and a good bedside manner can coexist. The overarching goal of Dan Driscoll's research is to blend meaningful discoveries at the laboratory bench and the patient's bedside which ultimately will result in significant treatments for both children and adults. His research interests are focused in three interrelated areas that combine his clinical and basic science expertise; Genomic imprinting/Epigenetics; Prader-Willi syndrome; and Early-onset morbid obesity.

Driscoll, a professor of pediatrics and genetics and the John T. and Winifred M. Hayward Professor of Genetics Research studies Prader-Willi syndrome as a model system to understand genomic imprinting and early-onset morbid obesity. Genomic imprinting is a recently discovered phenomenon whereby certain genes are expressed differently depending upon whether they are inherited from the mother or the father.

"A disturbance in genomic imprinting in humans has been shown to play a major role in a number of birth defects, genetic diseases and cancers," says Driscoll.

Driscoll's laboratory developed a system over a decade ago which is now used worldwide as a rapid means to make the diagnosis of Prader-Willi syndrome as well as several other imprinted disorders. This methodology, in many cases, has allowed the diagnosis of Prader-Willi syndrome to be made at a much earlier age which has resulted in earlier treatment and better outcomes for this condition.

In addition, his laboratory was the first to propose and demonstrate a whole new class of mutations which are now called imprinting defects. This type of mutation has since been found in several other diseases and cancers.

Most recently, Driscoll and his colleagues have shown that early-onset childhood obesity is associated with cognitive impairment and white matter lesions in the brain. They postulate that the metabolic disturbances of early obesity could be having deleterious effects on the young, vulnerable brain.

"It's well-known that obesity is associated with a number of other medical problems, such as diabetes, hypertension and elevated cholesterol," says Driscoll, the lead author of the study. "Now, we're postulating that early-onset morbid obesity and the subsequent metabolic/ biochemical problems can also lead to cognitive impairment."