The 20 Best Gangliosidosis Doctors in The United States

Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as an Elite provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Whitley is board certified in Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984. Dr. Whitley is currently accepting new patients.

Cynthia Tifft is a Medical Genetics provider practicing medicine in Washington, Washington, D.c.. Dr. Tifft is rated as an Elite provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.

Florian Eichler is a Pediatric Neurologist practicing medicine in Boston, Massachusetts. Dr. Eichler is rated as an Elite provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Adrenoleukodystrophy (ALD), CACH Syndrome, Tay-Sachs Disease, Gangliosidosis, and Gastrostomy.

Christopher Stephen is a Neurologist practicing medicine in Boston, Massachusetts. Dr. Stephen is rated as a Distinguished provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 38 other conditions, according to our data. His clinical expertise encompasses Drug Induced Dyskinesia, Spinocerebellar Ataxia Type 27, Movement Disorders, and Tay-Sachs Disease. Dr. Stephen is board certified in Neurology.

Dr. Adam Hartman is an Adjunct Associate Professor of Neurology and Pediatrics at Johns Hopkins School of Medicine. He focuses on treating children with epilepsy, with an emphasis on those whose seizures have not been adequately controlled with medication. He evaluates and manages patients in his clinic who may be candidates for epilepsy surgery, including those with Rasmussen syndrome, brain malformations, and perinatal strokes. Patients who may not be surgery candidates due to inborn errors of metabolism (particularly mitochondrial disorders) also are a special interest for Dr. Hartman. Dr. Hartman is currently a Physician at NINDS/NIH, serving as a Program Director in the Division of Clinical Research. Previously, Dr. Hartman was the Associate Program Director for the Pediatric Neurology Residency at Johns Hopkins Hospital. He also was the Co-Director of the Neurology Intensive Care Nursery and an Attending Physician on the Pediatric Neurology Inpatient Service at Johns Hopkins Hospital. Dr. Hartman’s prior laboratory work was funded by National Institute of Neurological Disorders and Stroke (NIH), Technology Development Corporation (State of Maryland), a Johns Hopkins University School of Medicine Clinician Scientist Award, the Pakula Family, and the Becker Family. Dr. Hartman received his medical degree from Northwestern University Medical School. After completing his residency in Pediatrics in the National Capital Uniformed Services Pediatric Residency Program (National Naval Medical Center, Walter Reed Army Medical Center), he served as a general pediatrician in the US Navy for five years (the last as division head of general pediatrics at Naval Medical Center San Diego). He completed his residency in pediatric neurology and a fellowship in clinical neurophysiology/pediatric epilepsy, both at Johns Hopkins. Dr. Hartman is rated as an Advanced provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Hemimegalencephaly, Seizures, Epilepsy, and Increased Head Circumference. Dr. Hartman is board certified in American Board Of Psychiatry And Neurology.

Rebecca Kuenzler is a Neuromusculoskeletal Medicine provider practicing medicine in Cleveland, Ohio. She has been practicing medicine for over 32 years. Dr. Kuenzler is rated as an Advanced provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 54 other conditions, according to our data. Her clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy (SMA), and Spinal and Bulbar Muscular Atrophy. Dr. Kuenzler is board certified in American Board Of Psychiatry And Neurology, 2005.

Debra Regier is a Pediatrics provider practicing medicine in Washington, Washington, D.c.. She has been practicing medicine for over 17 years. Dr. Regier is rated as a Distinguished provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Gangliosidosis, GM1 Gangliosidosis, Cantu Syndrome, and Maple Syrup Urine Disease.

William Gahl is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Bethesda, Maryland. Dr. Gahl is rated as a Distinguished provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 46 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

Shanna Patterson is a Neurologist practicing medicine in New York, New York. Dr. Patterson is rated as an Advanced provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses GM1 Gangliosidosis, Peripheral Neuropathy, Cramp-Fasciculation Syndrome, and Gangliosidosis.

Maija-riikka Steenari is a Neurologist and a Pediatric Neurologist practicing medicine in Orange, California. Dr. Steenari is rated as an Advanced provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 157 other conditions, according to our data. Her clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, and Pyruvate Carboxylase Deficiency. Dr. Steenari is currently accepting new patients.

Steven Gerhardt is a Neurologist practicing medicine in Dallas, Texas. Dr. Gerhardt is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Stroke, Distal Median Nerve Dysfunction, Foot Drop, and Common Peroneal Nerve Dysfunction.

Anthony Gregg is a Neonatologist practicing medicine in Columbia, South Carolina. Dr. Gregg is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Preeclampsia, Mayer-Rokitansky-Kuster-Hauser Syndrome, Premature Infant, Hysterectomy, and Salpingo-Oophorectomy. Dr. Gregg is board certified in American Board Of Obstetrics And Gynecology. Dr. Gregg is currently accepting new patients.

Susan Klugman, MD, FACOG, FACMG, is Director, Reproductive and Medical Genetics, Program Director, Medical Genetics and Genomics Residency and Professor, Obstetrics & Gynecology and Women’s Health and Pediatrics at Montefiore Einstein. Her clinical focus is on the evaluation of patients and families at risk for genetic disorders including those patients at risk for hereditary cancer syndromes. She also provides evaluations during pregnancy or preconception, including prenatal diagnosis and consultation for patients undergoing assisted reproductive technologies. Dr. Klugman is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Mosaicism, Chromosome 13q Duplication, Trisomy 13, and Trisomy 18.

Omid Motabar is a Neurologist practicing medicine in Bethesda, Maryland. Dr. Motabar is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. His clinical expertise encompasses Stroke, Tay-Sachs Disease, Gangliosidosis, and Generalized Tonic-Clonic Seizure.

Dr. Schiffmann is a renowned expert on neurometabolic diseases. He earned his medical degree from the University of Liège, Belgium and a Master of Health Sciences in Clinical Research from Duke University. He is board-certified in Neurology with a Special Qualification in Child Neurology and is a Fellow of the American Academy of Neurology. Dr. Schiffmann was a lead researcher at the United States National Institutes of Health in Bethesda, Maryland for over 17 years (1991-2007) and then the Director of the Institute of Metabolic Disease at the Baylor Scott & White Research Institute in Dallas, Texas, 2008-2019. Dr. Schiffmann is a Professor in the Department of Internal Medicine, Texas Christian University and a Clinical Professor, Texas A&M University Medical School College of Medicine. He is also a Senior Vice President for Clinical Research at 4D Molecular Therapeutics. Dr. Schiffmann has been performing pre-clinical and clinical research on lysosomal storage diseases since 1991 with a special focus on the natural history, pathogenesis and therapy of Fabry disease, Gaucher disease and the leukodystrophies. One of his particular interests and areas of expertise is to address patients with undiagnosed neurological diseases. Dr. Schiffmann has published 276 peer-reviewed research articles and over 15 book chapters. Dr. Schiffmann is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Gaucher Disease Type 3, Fabry Disease, Gaucher Disease, and Leukodystrophy. Dr. Schiffmann is board certified in Neurology With Special Qualification In Child Neurology- American Board Of Psychiatry And Neurology/Neurology With Special Qualification In Child Neurology and Neurology With Special Qualification In Child Neurology- American Board Of Psychiatry And Neurology.

Margherita Milone is a Neurologist practicing medicine in Rochester, Minnesota. Dr. Milone is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 36 other conditions, according to our data. Her clinical expertise encompasses Necrotizing Myopathy (NM), Nemaline Myopathy, Progressive External Ophthalmoplegia, and Tubular Aggregate Myopathy. Dr. Milone is board certified in MN State Medical License 2003-2023.

Recent advances have made the discovery of genetic susceptibility loci for complex human phenotypes a reality, including nervous system disorders. The critical next step will be to definitively identify the responsible genes and understand their functions in both health and disease. Our research integrates genetic investigation in human subjects and model organisms, with the goal of understanding brain function and aging, and improving the treatment of neurologic disease. We focus on Alzheimer's disease and Parkinson's disease, two incurable neurodegenerative disorders and experimental paradigms for the age-dependent failure of brain cognitive and motor control in humans. Human Genetics: The clinical manifestation of neurodegenerative disease is the culmination of a multi-tiered pathogenic cascade that evolves over decades; understanding how genetic variants impact this causal chain is essential. Although 2 percent of the population over age 65 are clinically diagnosed with Parkinson's disease, the defining pathology of disease (alpha-synuclein Lewy bodies) is discovered in 20 percent of brains from population-based autopsy studies. We are, therefore, investigating the impact of genomic variation on directly measured Lewy pathology, neuronal loss in the midbrain substantia nigra, and progressive motor impairment, leveraging human subject cohorts with detailed clinical and pathological data. In complementary investigations, we are deploying biosensor devices to improve detection of Parkinson's-related motor impairment, including the development of quantitative biometric phenotypes for genetic analyses of disease subtypes. We are also performing whole exome sequencing of individuals with familial Parkinson's disease and related disorders, and exploring potential links between inherited pediatric lysosomal and late-onset, adult neurodegenerative diseases. Drosophila Genetics: Despite the promise of current human genetic methods, such as genome-wide association studies and next generation sequencing, they often fail to definitively identify disease susceptibility genes and variants. We are, therefore, taking advantage of the rapid and powerful genetics available in the fruit fly Drosophila melanogaster in order to accelerate the validation of responsible genes and an understanding of their functions in the nervous system, including for disease pathogenesis. Expression of human amyloid-beta, Tau, or alpha-synuclein proteins in the fly nervous system recapitulates many core features of Alzheimer's disease and Parkinson's disease pathogenesis. We are testing candidate human susceptibility genes for functional genetic interactions in these fly models of neurodegeneration. Implicated molecular pathways are probed in greater depth, using both Drosophila and human genetic approaches. Current areas of interest include endolysosomal sorting, RNA metabolism/splicing, neuronal cell adhesion, and synaptic mechanisms of neurodegeneration. Dr. Shulman is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Parkinson's Disease, Movement Disorders, Alzheimer's Disease, and Dementia. Dr. Shulman is currently accepting new patients.

I find joy and satisfaction in my dedication to the care of children with rare diseases specifically: genetic disorders and inherited disorders of metabolism. Due to many years of training and practice, I have experience involving care of patients with a variety of genetic and metabolic conditions, including but not limited to glycogen storage diseases, fatty acid oxidation defects, mitochondrial disorders, lysosomal storage diseases, urea cycle disorders, organic acidurias, aminoacidopathies, and infantile hepatopathy due to LARS mutations, etc. I enjoy working together with children and their parents, whom I consider an important part of the team. I pursued this field because it gives me great satisfaction and pleasure to see the children with these conditions grow, and the patients and families feel cared for, and not isolated. I love learning about the children's interests, and see that they grow happy and healthy. I think out of the box when there is a challenge that needs to be met for the patient's care and management. Dr. Hassan is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Mitochondrial Trifunctional Protein Deficiency, Protein Deficiency, Von Gierke Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. Hassan is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics and American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics.

Sara Cathey is a Medical Genetics provider practicing medicine in Charleston, South Carolina. Dr. Cathey is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Aspartylglucosaminuria, Mucolipidosis Type 4, Fucosidosis, and Mucolipidosis 3. Dr. Cathey is currently accepting new patients.