The 20 Best Tay-Sachs Disease Doctors in The United States

Florian Eichler is a Pediatric Neurologist in Boston, Massachusetts. Dr. Eichler is rated as an Elite provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Tay-Sachs Disease, Gangliosidosis, and Gastrostomy.

Cynthia Tifft is a Medical Genetics provider in Washington, Washington, D.c.. Dr. Tifft is rated as an Elite provider by MediFind in the treatment of Tay-Sachs Disease. Her top areas of expertise are Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.

Camilo Toro is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Toro is rated as an Elite provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Chediak-Higashi Syndrome, Tay-Sachs Disease, Sandhoff Disease, Spasticity, and Deep Brain Stimulation.

Christopher Stephen is a Neurologist in Boston, Massachusetts. Dr. Stephen is rated as a Distinguished provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Drug Induced Dyskinesia, Spinocerebellar Ataxia Type 27, Movement Disorders, and Tay-Sachs Disease.

Kevin Kapadia is a Neurologist in Santa Barbara, California. Dr. Kapadia has been practicing medicine for over 17 years and is rated as an Advanced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Peripheral Neuropathy, Tay-Sachs Disease, Migraine, and Neuronal Intranuclear Inclusion Disease (NIID).

Chester Whitley is a Pediatrics specialist and a Medical Genetics provider in Minneapolis, Minnesota. Dr. Whitley is rated as a Distinguished provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are 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 currently accepting new patients.

Heather Lau is a Pediatric Neurologist in New York, New York. Dr. Lau is rated as a Distinguished provider by MediFind in the treatment of Tay-Sachs Disease. Her top areas of expertise are Gaucher Disease, Sandhoff Disease, Gaucher Disease Type 3, and Gaucher Disease Type 2.

Susan Perlman is a Neurologist in Los Angeles, California. Dr. Perlman is rated as a Distinguished provider by MediFind in the treatment of Tay-Sachs Disease. Her top areas of expertise are Spinocerebellar Ataxia, Friedreich Ataxia, Drug Induced Dyskinesia, and Olivopontocerebellar Atrophy.

Nizar Chahin is a Neurologist in Portland, Oregon. Dr. Chahin is rated as an Advanced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Inclusion Body Myositis, Myasthenia Gravis, Nemaline Myopathy, and Lambert-Eaton Syndrome.

Ximena Arcila is a Neurologist in West Bloomfield, Michigan. Dr. Arcila is rated as an Advanced provider by MediFind in the treatment of Tay-Sachs Disease. Her top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy Type 3, and Gastrostomy.

Saurabh Shukla is a Neurologist in Denton, Texas. Dr. Shukla has been practicing medicine for over 17 years and is rated as an Advanced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Memory Loss, Thromboangiitis Obliterans, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, and Migraine.

Richard Chang is a Medical Genetics provider in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Arginase Deficiency, and Urea Cycle Disorders (UCD). Dr. Chang is currently accepting new patients.

Anand Gundakaram is a Neurologist in Wilmington, Delaware. Dr. Gundakaram has been practicing medicine for over 19 years and is rated as an Experienced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Generalized Tonic-Clonic Seizure, Seizures, Migraine, and Wolf-Hirschhorn Syndrome.

Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Experienced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

Eugene Morris is a Pediatric Neurologist in Athens, Georgia. Dr. Morris has been practicing medicine for over 28 years and is rated as an Experienced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Generalized Tonic-Clonic Seizure, Seizures, Epilepsy, and Neuralgia. Dr. Morris is currently accepting new patients.

Anthony Gregg is a Neonatologist in Columbia, South Carolina. Dr. Gregg is rated as an Experienced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Preeclampsia, Mayer-Rokitansky-Kuster-Hauser Syndrome, Premature Infant, Hysterectomy, and Salpingo-Oophorectomy. Dr. Gregg is currently accepting new patients.

Dimitri Krainc is a Neurologist in Chicago, Illinois. Dr. Krainc has been practicing medicine for over 34 years and is rated as an Experienced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Movement Disorders, Parkinson's Disease, Farber Lipogranulomatosis, Drug Induced Dyskinesia, and Deep Brain Stimulation.

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 Tay-Sachs Disease. His top areas of expertise are Parkinson's Disease, Movement Disorders, Alzheimer's Disease, and Dementia.

Omid Motabar is a Neurologist in Bethesda, Maryland. Dr. Motabar is rated as an Experienced provider by MediFind in the treatment of Tay-Sachs Disease. His top areas of expertise are Stroke, Farber Lipogranulomatosis, Tay-Sachs Disease, and Gangliosidosis.

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 Tay-Sachs Disease. Her top areas of expertise are Mosaicism, Chromosome 13q Duplication, Trisomy 13, and Holoprosencephaly.