The 20 Best Sandhoff Disease Doctors in The United States

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 Sandhoff Disease. 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.

Patrick Thompson is a Hematologist and an Oncologist practicing medicine in Houston, Texas. Dr. Thompson is rated as an Elite provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Sandhoff Disease, Hepatoblastoma, Acute Lymphoblastic Leukemia (ALL), and Ewing Sarcoma.

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 Sandhoff Disease. He is also highly rated in 25 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 an Advanced provider by MediFind in the treatment of Sandhoff Disease. 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.

Camilo Toro is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Toro is rated as a Distinguished provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Chediak-Higashi Syndrome, Tay-Sachs Disease, Sandhoff Disease, Spasticity, and Deep Brain Stimulation.

Heather Lau is a Pediatric Neurologist practicing medicine in New York, New York. Dr. Lau is rated as a Distinguished provider by MediFind in the treatment of Sandhoff Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Gaucher Disease, Sandhoff Disease, Gaucher Disease Type 3, and Gaucher Disease Type 2.

Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as a Distinguished provider by MediFind in the treatment of Sandhoff Disease. 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 currently accepting new patients.

Mary Ameh is a Registered Nurse provider practicing medicine in Richland, Washington. Dr. Ameh is rated as a Distinguished provider by MediFind in the treatment of Sandhoff Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Sandhoff Disease and Seasonal Affective Disorder (SAD). Dr. Ameh is currently accepting new patients.

Tanya Lehky is a Neurologist practicing medicine in Bethesda, Maryland. Dr. Lehky is rated as an Advanced provider by MediFind in the treatment of Sandhoff Disease. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Giant Axonal Neuropathy, Peripheral Neuropathy, Chediak-Higashi Syndrome, and Sandhoff Disease.

Pradeep Bhat is a Cardiologist practicing medicine in Phoenix, Arizona. Dr. Bhat is rated as an Advanced provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 59 other conditions, according to our data. His clinical expertise encompasses Atrial Fibrillation, Arterial Embolism, Heart Failure, and Coronary Heart Disease.

Rahool Karnik is a Cardiologist practicing medicine in Glendale, Arizona. Dr. Karnik is rated as an Advanced provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Arterial Embolism, Carotid Artery Disease, Glucocorticoid-Remediable Aldosteronism, and Hypertension.

Eva Baker is a Radiologist practicing medicine in Bethesda, Maryland. Dr. Baker is rated as an Advanced provider by MediFind in the treatment of Sandhoff Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses GM1 Gangliosidosis, Sandhoff Disease, Neurofibromatosis, and RASopathies.

Martin Pomper is a Radiologist practicing medicine in Baltimore, Maryland. Dr. Pomper is rated as an Advanced provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Neuroendocrine Tumor, Renal Cell Carcinoma (RCC), Sandhoff Disease, Prostatectomy, and Lithotripsy.

Nicholas Maragakis treats patients with motor neuron diseases, such as amyotrophic lateral sclerosis (ALS). This care is coordinated with the Johns Hopkins Center for ALS Specialty Care, a multidisciplinary clinic with expertise in treating patients with ALS and providing support to their caregivers. He serves as medical director of the ALS Clinical Trials Unit, an extension of the multidisciplinary clinic that seeks to facilitate opportunities for patients with ALS to participate in clinical trials that could advance the treatment of this disease. Dr. Maragakis is interested in the basic science of understanding neurodegenerative diseases, as well as the translational potential of therapeutic compounds developed in the laboratory. His fundamental research interest is in using stem cells — more specifically, stem cell-derived motor neurons and glia — for understanding the development and propagation of ALS. His laboratory has been involved in creating and characterizing lines of stem cells from patients with ALS using induced pluripotent stem cell (iPSC) methodologies. The laboratory has a large library of iPSCs from patients with familial ALS and from patients with sporadic ALS. The utilization of this library of iPSCs has facilitated the development of a spinal cord-specific iPSC-astrocyte/motor neuron co-culture system, which has been leveraged for the development of assays that can be used for both the basic understanding of ALS astrocyte and motor neuron biology as well as, eventually, drug screening for ALS therapeutics. His laboratory has taken its long-standing interests in astrocyte biology, as it relates to ALS, to develop a program that investigates astrocyte-specific mechanisms as contributors to the progression (both temporally and anatomically) of disease in ALS. In this vein, there is an interest in astrocytic glutamate transporters and, more recently, astrocyte hemichannels and gap junctions. Dr. Maragakis is rated as an Experienced provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, 15q11.2 Microdeletion, and Spinal Muscular Atrophy (SMA).

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

Dimitri Krainc is a Neurologist practicing medicine in Chicago, Illinois. He has been practicing medicine for over 34 years. Dr. Krainc is rated as an Experienced provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Movement Disorders, Parkinson's Disease, Farber Lipogranulomatosis, Drug Induced Dyskinesia, and Deep Brain Stimulation. Dr. Krainc is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified).

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 Sandhoff Disease. 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.

Anitha Lokesh is a primary care provider, practicing in Family Medicine in Winston-salem, North Carolina. Dr. Lokesh is rated as an Advanced provider by MediFind in the treatment of Sandhoff Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Sandhoff Disease, Tay-Sachs Disease, High Cholesterol, and Familial Combined Hyperlipidemia.

Oguz Cataltepe is a Neurosurgery provider practicing medicine in Worcester, Massachusetts. He has been practicing medicine for over 44 years. Dr. Cataltepe is rated as an Advanced provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Cerebellum Agenesis Hydrocephaly, Hydrocephalus, Normal Pressure Hydrocephalus, Gastrostomy, and Tissue Biopsy.

Mohammad Rahman is a primary care provider, practicing in Internal Medicine in Macon, Georgia. Dr. Rahman is rated as an Advanced provider by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Conversion Disorder, Sandhoff Disease, Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, and Gastrostomy. Dr. Rahman is board certified in American Board Of Internal Medicine. Dr. Rahman is currently accepting new patients.