25 of the Best Geneticists Near Me

Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New Hyde Park, New York. Dr. Fernandes is highly rated in 153 conditions, according to our data. Her clinical expertise encompasses Microcephaly, Chromosome 13q Deletion, Hemihyperplasia, and Alstrom Syndrome.

Kandamurugu Manickam is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Toledo, Ohio. Dr. Manickam is highly rated in 3 conditions, according to our data. His clinical expertise encompasses Chromosome 6q Deletion, Vici Syndrome, Neurofibromatosis Type 1 (NF1), and Smith-Magenis Syndrome. Dr. Manickam is board certified in American Board Of Internal Medicine and American Board Of Medical Genetics & Genomics. Dr. Manickam is currently accepting new patients.

Laurie Seaver is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Grand Rapids, Michigan. Dr. Seaver is highly rated in 3 conditions, according to our data. Her clinical expertise encompasses Hypotonia, 1p36 Deletion Syndrome, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome. Dr. Seaver is currently accepting new patients.

Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Zackai is highly rated in 100 conditions, according to our data. Her clinical expertise encompasses Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Ahmad is highly rated in 50 conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Ahmad is board certified in Clinical Biochemical Genetics and Clinical Genetics & Genomics.

Dr. Pritchard is a Michigan native who returned to the University of Michigan to join the faculty here in 2019 after completing her pediatrics and genetics residencies and biochemical genetics fellowship. She enjoys care of complex patients with rare genetic diseases. Dr. Pritchard is active in medical education as Program Director for the Medical Biochemical Genetics Fellowship program and Associate Program Director for the Medical Genetics and Genomics training programs.Outside of work, Dr. Pritchard enjoys cooking, reading, hiking, and spending time with her husband and two daughters. Dr. Pritchard is highly rated in 149 conditions, according to our data. Her clinical expertise encompasses Microcephaly Deafness Syndrome, Propionic Acidemia, Delayed Growth, and Cockayne Syndrome Type 2.

Suzanne Debrosse is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cleveland, Ohio. Dr. Debrosse is highly rated in 88 conditions, according to our data. Her clinical expertise encompasses Pyruvate Dehydrogenase Deficiency, Pyruvate Decarboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Pyruvate Carboxylase Deficiency. Dr. Debrosse is currently accepting new patients.

Gifty Bhat is a Medical Genetics provider practicing medicine in Orlando, Florida. She has been practicing medicine for over 3 years. Dr. Bhat is highly rated in 134 conditions, according to our data. Her clinical expertise encompasses Microcephaly, HNRNPH2-Related Disorder, Chromosome 6q Duplication, and Chromosome 8p Deletion. Dr. Bhat is board certified in American Board Of Medical Genetics And Genomics.

Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Quinonez is highly rated in 129 conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Propionic Acidemia. Dr. Quinonez is board certified in Pediatrics, Clinical Biochemical Genetics, and Clinical Genetics & Genomics.

Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is highly rated in 27 conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation. Dr. Hamosh is board certified in American Board Of Medical Genetics And Genomics.

Luis Umana is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Umana is highly rated in 177 conditions, according to our data. His clinical expertise encompasses Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Classic Galactosemia, Biotinidase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. During her Ph.D., she worked with Dr. David Valle using next-generation sequencing to elucidate the molecular basis of rare Mendelian phenotypes and in 2010 she discovered PTPN11 as the gene responsible for metachondromatosis by using whole-genome sequencing. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data. She has also worked extensively on functional studies that evaluate the possible pathogenic effects of the candidate causative variants. Recent News Articles and Media Coverage Living the Hopkins Mission Honorees, Johns Hopkins Medicine Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD, Ambry Genetics (April 30, 2018) Enfermedades raras: el desafio es encontrar otros pacientes que tienen el mismo mal, Lun (26 de septiembre de 2019) 2021 Science Writers' Boot Camp, Johns Hopkins Medicine (June 7, 2021) Making the Perfect Match, Johns Hopkins Medicine (February 1, 2020). Dr. De Macena Sobreira is highly rated in 24 conditions, according to our data. Her clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy. Dr. De Macena Sobreira is board certified in American Board Of Medical Genetics And Genomics.

Lance Rodan is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Rodan is highly rated in 172 conditions, according to our data. His clinical expertise encompasses Polymicrogyria, Hennekam Syndrome, Increased Head Circumference, and Cortical Dysplasia.

In my clinical practice, I see adult patients with diagnosed or suspected genetic disease. This includes both chromosomal abnormalities, as well as single gene disorders. I see patients with a variety of disorders, including Tuberous Sclerosis, Neurofibromatosis, connective tissue disease including Ehlers-Danlos syndrome and Marfan syndrome, and familial cancer syndromes. I have a particular clinical interest in patients with cardiopulmonary disease. As a physician-scientist, I have a research focus on postural orthostatic hypotension (POTS) and pulmonary artery hypertension (PAH). Dr. Posey is highly rated in 20 conditions, according to our data. Her clinical expertise encompasses Hypotonia, Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia. Dr. Posey is currently accepting new patients.

Constantine Stratakis is a Medical Genetics specialist and a Gastroenterologist practicing medicine in Bethesda, Maryland. Dr. Stratakis is highly rated in 15 conditions, according to our data. His clinical expertise encompasses Cushing's disease, Neuroendocrine Tumor, Gastrointestinal Stromal Tumor, Hormone Replacement Therapy (HRT), and Orchiectomy.

Dr. Virginia E. Kimonis is a board-certified UCI Health clinician-scientist who specializes in the diagnosis and treatment of children and adults with neuromuscular, neurodegenerative, dysmorphia and other complex disorders.Her clinical interests include inclusion body myopathy, Paget disease, Pompe disease, frontotemporal dementia, Prader Willi syndrome, morbid obesity and craniosynostosis.Kimonis earned her medical degree at the University of Southampton Medical School in Southampton, England. She completed a residency in pediatrics at Massachusetts General Hospital in Boston, followed by a fellowship in clinical and biochemical genetics at the National Institutes of Health (NIH) and Children's National Hospital in Washington, D.C.The author or co-author of more than 175 peer-reviewed publications in prestigious journals, Kimonis has focused her research primarily on inherited muscle disorders, lysosomal storage diseases, Prader Willi and several other rare disorders. She developed the Lysosomal Disease Program, established a registry study among a large cohort of patients with Pompe disease, and conducted a study of resistance training for axial and respiratory muscles in Pompe disease as an adjunct to enzyme replacement treatment.She also discovered multisystem proteinopathy, a new disease type associated with mutations in the VCP gene that overlaps with Pompe disease. She has received research funding from numerous agencies, including NIH, the Muscular Dystrophy Association, the Paget Foundation and other rare disease foundations.Kimonis also is a lead investigator with the newly establishedNational Organization for Rare Disorders (NORD) Rare Disease Center of Excellence, a joint program of UCI Health and Children's Hospital of Orange County (CHOC). Dr. Kimonis is highly rated in 15 conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.

Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is highly rated in 12 conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Progressive External Ophthalmoplegia, and Infantile Neutropenia. Dr. Vernon is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

William Rizzo is a Medical Genetics provider practicing medicine in Omaha, Nebraska. He has been practicing medicine for over 49 years. Dr. Rizzo is highly rated in 11 conditions, according to our data. His clinical expertise encompasses Sjogren-Larsson Syndrome, Zellweger Syndrome, Pompe Disease, and Danon Disease.

Stephen Gruber is a Medical Genetics specialist and an Oncologist practicing medicine in Duarte, California. Dr. Gruber is highly rated in 10 conditions, according to our data. His clinical expertise encompasses Colorectal Cancer, Familial Colorectal Cancer, Lynch Syndrome, Melanoma, and Colonoscopy.

Darius Adams is a Medical Genetics provider practicing medicine in Morristown, New Jersey. Dr. Adams is highly rated in 10 conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Glycogen Storage Disease Type 3, Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Dr. Adams is board certified in American Board Of Medical Genetics And Genomics. Dr. Adams is currently accepting new patients.

Hope Northrup is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Houston, Texas. She has been practicing medicine for over 43 years. Dr. Northrup is highly rated in 9 conditions, according to our data. Her clinical expertise encompasses Cortical Dysplasia, Epilepsy in Children, Phenylketonuria (PKU), and Spasmus Nutans.

Jeffrey Weitzel is a Medical Genetics provider practicing medicine in Westwood, Kansas. He has been practicing medicine for over 38 years. Dr. Weitzel is highly rated in 9 conditions, according to our data. His clinical expertise encompasses Breast Cancer, Ovarian Cancer, Li-Fraumeni Syndrome, Breast Cancer in Men, and Salpingo-Oophorectomy. Dr. Weitzel is board certified in American Board Of Internal Medicine, Medical Oncology - 1989 and American Board Of Internal Medicine, Internal Medicine - 1986. Dr. Weitzel is currently accepting new patients.

I am a clinical geneticist and a pediatrician with a deep interest in undiagnosed and rare genetic disorders. I provide medical care for children and adults with chromosome 22q11.2 deletion syndrome and diagnostic evaluation for patients with symptoms and signs of genetic disorders, when evaluations have not provided a specific diagnosis. Dr. Shashi is highly rated in 9 conditions, according to our data. Her clinical expertise encompasses DiGeorge Syndrome, Hypotonia, Immune Defect due to Absence of Thymus, and Micrognathia. Dr. Shashi is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics - General.

Dana Zakalik is a Medical Genetics specialist and an Oncologist practicing medicine in Royal Oak, Michigan. She has been practicing medicine for over 43 years. Dr. Zakalik is highly rated in 9 conditions, according to our data. Her clinical expertise encompasses Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, Paget Disease of the Breast, and Salpingo-Oophorectomy. Dr. Zakalik is board certified in American Board Of Internal Medicine and American Board Of Internal Medicine. Dr. Zakalik is currently accepting new patients.

I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is highly rated in 8 conditions, according to our data. His clinical expertise encompasses Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Hypotonia. Dr. Niyazov is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics - General.