The 20 Best Acid Sphingomyelinase Deficiency (ASMD) Doctors in The United States

Jaya Ganesh is a Pediatrics provider practicing medicine in New York, New York. Dr. Ganesh is rated as an Elite provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). She is also highly rated in 64 other conditions, according to our data. Her clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Pompe Disease, and Danon Disease.

Irina Petrache is an Intensive Care Medicine provider practicing medicine in Denver, Colorado. Dr. Petrache is rated as an Advanced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Emphysema, Chronic Obstructive Pulmonary Disease (COPD), Cerebral Hypoxia, and Pulmonary Hypertension.

Gerald Cox is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Cox is rated as a Distinguished provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Gaucher Disease Type 1, Acid Sphingomyelinase Deficiency (ASMD), Sandhoff Disease, and Niemann-Pick Disease. Dr. Cox is currently accepting new patients.

Joshua Baker is a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Baker is rated as a Distinguished provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). He is also highly rated in 152 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Acid Sphingomyelinase Deficiency (ASMD), and Propionic Acidemia.

Forbes Porter is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Bethesda, Maryland. Dr. Porter is rated as a Distinguished provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

Karina Serban is an Intensive Care Medicine provider practicing medicine in Denver, Colorado. Dr. Serban is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Alpha-1 Antitrypsin Deficiency (AATD), Emphysema, Chronic Obstructive Pulmonary Disease (COPD), and Subcutaneous Emphysema.

Atul Mehta is a Transplant Surgeon practicing medicine in Cleveland, Ohio. He has been practicing medicine for over 56 years. Dr. Mehta is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Acute Interstitial Pneumonia, Emphysema, Interstitial Lung Disease, Lung Transplant, and Endoscopy. Dr. Mehta is board certified in American Board Of Internal Medicine, 1984.

Dr. Karjoo specializes in pediatric gastroenterology/hepatology in the Department of Medicine at Johns Hopkins All Children’s Hospital. She sees patients in St. Petersburg and Sarasota. Dr. Karjoo’s clinical interests include hepatology and medical education. She earned her medical degree from The State University of New York Upstate Medical University. Dr. Karjoo trained in pediatrics at the University of Pittsburgh Medical Center/Children’s Hospital of Pittsburgh, in Pittsburgh, Pennsylvania. She completed a gastroenterology clinical fellowship and a gastroenterology research fellowship at the Children's Hospital of Philadelphia. Dr. Karjoo is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Lactose Intolerance, Eosinophilic Esophagitis, Delayed Growth, Gastrostomy, and Endoscopy. Dr. Karjoo is board certified in American Board Of Obesity Medicine and American Board Of Pediatrics.

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 Acid Sphingomyelinase Deficiency (ASMD). 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.

Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

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 Acid Sphingomyelinase Deficiency (ASMD). 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.

Gustavo Maegawa is a Medical Genetics provider practicing medicine in New York, New York. Dr. Maegawa is rated as an Advanced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Krabbe Disease, Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, and Gaucher Disease. Dr. Maegawa is board certified in Clinical Genetics And Genomics (MD) and Medical Biochemical Genetics. Dr. Maegawa is currently accepting new patients.

Juliana Mariani is an Intensive Care Medicine provider practicing medicine in Boston, Massachusetts. Dr. Mariani is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Hydranencephaly, Orofaciodigital Syndrome 6, VLDLR-Associated Cerebellar Hypoplasia, Myringotomy, and Adenoidectomy.

Mark Dexter is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Dexter is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). His clinical expertise encompasses Koolen De Vries Syndrome, Early Infantile Epileptic Encephalopathy, Wildervanck Syndrome, and Microcephaly Deafness Syndrome.

Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.

Luis Umana is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Umana is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). He is also highly rated in 177 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Biotinidase Deficiency, and Argininosuccinic Aciduria.

Katherine Peeler is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Peeler is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). Her clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome).

Ivan Borbon is a primary care provider, practicing in Internal Medicine in Tucson, Arizona. Dr. Borbon is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Niemann-Pick Disease, Non-Langerhans-Cell Histiocytosis, Type 2 Diabetes (T2D), and Reticulohistiocytoma. Dr. Borbon is currently accepting new patients.

Maria Leal is a Laboratory Medicine provider practicing medicine in Charleston, South Carolina. Dr. Leal is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Type 1 Diabetes (T1D), Type 2 Diabetes (T2D), Abdominal Obesity Metabolic Syndrome, and Periodontitis.

Richard Kolesnick is an Endocrinologist practicing medicine in New York, New York. Dr. Kolesnick is rated as an Experienced provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). His clinical expertise encompasses Diabetic Retinopathy, Niemann-Pick Disease, Acid Sphingomyelinase Deficiency (ASMD), and Thyroid Nodule.