The 20 Best Gaucher Disease Doctors Near Me in Austin, TX

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 Elite provider by MediFind in the treatment of Gaucher Disease. 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.

Markey Mcnutt is an Internal Medicine specialist and an Endocrinologist practicing medicine in Dallas, Texas. Dr. Mcnutt is rated as an Advanced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 122 other conditions, according to our data. His clinical expertise encompasses Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Phenylketonuria (PKU), and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

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 Gaucher 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.

Maurizio Ghisoli is a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Ghisoli is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Ewing Sarcoma, Osteosarcoma, Adult Soft Tissue Sarcoma, Beta Thalassemia, and Bone Marrow Aspiration. Dr. Ghisoli is board certified in Pediatrics- American Board Of Pediatrics, Pediatric Hematology/Oncology- American Board Of Pediatrics/Pediatric Hematology-Oncology, and Pediatric Hematology-Oncology- American Board Of Pediatrics.

Esraa Eloseily is a Pediatric Rheumatologist and a Pediatrics provider practicing medicine in Frisco, Texas. Dr. Eloseily is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Juvenile Idiopathic Arthritis (JIA), Gaucher Disease, Osteomyelitis in Children, and Arthritis. Dr. Eloseily is board certified in Pediatrics- American Board Of Pediatrics.

Nisarg Shah is an Endocrinologist practicing medicine in Galveston, Texas. Dr. Shah is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 44 other conditions, according to our data. His clinical expertise encompasses Type 2 Diabetes (T2D), Graves Disease, Hypothyroidism, and Hyperthyroidism.

Jeremy Ruskin is a Cardiologist practicing medicine in Cypress,, Texas. Dr. Ruskin is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Atrial Fibrillation, Cardiac Tamponade, Cardiomyopathy, Cardiac Ablation, and Pacemaker Implantation.

Sarah Desoky is a Pediatric Radiologist practicing medicine in Galveston, Texas. Dr. Desoky is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Appendicitis, Megalencephaly-Capillary Malformation Syndrome, Perlman Syndrome, and Marshall-Smith Syndrome.

Arianna Bender is a primary care provider, practicing in Internal Medicine in El Paso, Texas. Dr. Bender is rated as an Advanced provider by MediFind in the treatment of Gaucher Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Gaucher Disease Type 1, Gaucher Disease Type 3, Gaucher Disease, and Gaucher Disease Type 2.

Christine Eng is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Eng is rated as an Advanced provider by MediFind in the treatment of Gaucher Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Hypotonia, Gaucher Disease Type 1, Micrognathia, and Meier-Gorlin Syndrome. Dr. Eng is currently accepting new patients.

Kathleen Halka is an Oncologist practicing medicine in Temple, Texas. Dr. Halka is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Deep Vein Thrombosis, Pulmonary Embolism, Thrombocytopenia, Bone Marrow Aspiration, and Endoscopy. Dr. Halka is board certified in Hematology- American Board Of Internal Medicine and Internal Medicine- American Board Of Internal Medicine.

Dr. Mark Sultenfuss is a board-certified diagnostic and interventional radiologist with a particular interest in minimally invasive treatment of renal cell cancer, varicose vein treatment and undergraduate medical education. Dr. Sultenfuss earned his certification from the American Board of Radiology and is a member of the Society of Interventional Radiology Association of Academic Radiologists, the Radiologic Society of North America, the American Vein and Lymphatic Society, the American College of Radiology and the American Roentgen Ray Society. In his spare time, he enjoys golf and working on vintage automobiles. Dr. Sultenfuss is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Ascites, WT1-Related Wilms Tumor Syndromes, Pleurisy, Liver Embolization, and Gastrostomy. Dr. Sultenfuss is board certified in Interventional Radiology And Diagnostic Radiology- American Board Of Radiology.

Vernon Sutton is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Austin, Texas. Dr. Sutton is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Osteogenesis Imperfecta, Genital Dwarfism, Robinow Syndrome, and 2q37 Deletion Syndrome. Dr. Sutton is currently accepting new patients.

James Gibson is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Austin, Texas. Dr. Gibson is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Hypotonia, Smith-Magenis Syndrome, Maple Syrup Urine Disease, and Phenylketonuria (PKU). Dr. Gibson is currently accepting new patients.

Oscar Aguilar is an Internal Medicine provider practicing medicine in El Paso, Texas. Dr. Aguilar is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. His clinical expertise encompasses Necrosis, Gaucher Disease Type 2, Gaucher Disease, and Gaucher Disease Type 3.

Joseph Ray is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Galveston, Texas. He has been practicing medicine for over 17 years. Dr. Ray is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 95 other conditions, according to our data. His clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Fabry Disease.

Jane Chawla is a Hematologist practicing medicine in Austin, Texas. Dr. Chawla is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Sideroblastic Anemia, Iron Deficiency Anemia, Thrombocytopenia, and Paget Disease of the Breast.

Kathryn Hudson is an Oncologist practicing medicine in Austin, Texas. Dr. Hudson is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Paroxysmal Nocturnal Hemoglobinuria (PNH), Breast Cancer, Paget Disease of the Breast, and Acute Mountain Sickness.

Michael Kasper is an Oncologist practicing medicine in Austin, Texas. Dr. Kasper is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Multiple Myeloma, Pleuropulmonary Blastoma, Lung Cancer, and Familial Pancreatic Cancer.

Ericka Greene is a Neurologist practicing medicine in Houston, Texas. Dr. Greene is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Myasthenia Gravis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Chronic Inflammatory Demyelinating Polyneuropathy, Spinal Muscular Atrophy Type 3, and Gastrostomy.