A global leader in rare disease care, we are a designated Center of Excellence by the National Organization for Rare Disorders (NORD)—one of only 40 academic medical centers in the U.S. selected to be a part of this prestigious national network.
We are an international referral site for the most complex, rare and inherited conditions.
Leaders in the Advanced Diagnosis & Treatment of Rare Conditions
Comprising more than forty innovative programs and centers dedicated to caring for rare diseases, many of which are among the nation’s first-of-its-kind, the New York Center for Rare Diseases at Montefiore Einstein is a premier global destination. At the forefront of academic research, education and clinical care, our elite, multidisciplinary team of world-renowned doctors utilizes the latest and most advanced diagnostics, treatments and technologies, including next-generation genomic sequencing, AI and newly emerging therapeutics, to deliver state-of-the-art personalized care and precision medicine to optimize quality of life for all individuals with complex and rare conditions.
Somos un centro internacional de referencia y centro académico para una amplia gama de enfermedades complejas, raras y hereditarias, y nuestro equipo de expertos en genómica y genética es uno de los equipos más grandes del país. Como uno de los primeros y más respetados programas del país, nuestra División de Genética ha liderado el camino en el cuidado de enfermedades genéticas y genómicas durante más de cincuenta años, sirviendo como modelo para otros. Estamos comprometidos a hacer que la medicina genómica y la atención de alta calidad sean más accesibles. Estamos desarrollando herramientas y estrategias para mejorar la detección de enfermedades raras que han eludido el diagnóstico y traduciendo los descubrimientos científicos en mejores resultados clínicos y nuevos tratamientos y curas que cambian la vida.
Whether you have been diagnosed with a rare condition or are suspected of having one, we understand the challenges that you and your family face, as well as the long and difficult diagnostic and therapeutic journey to finding an accurate diagnosis, effective treatment and quality care–and we’re here to help every step of the way. We have developed unique, multi-disciplinary programs to support individuals and families affected by various rare genetic diseases, including “gene teams” consisting of the child’s parents, physicians, and scientists knowledgeable about the gene causing the rare disorder. This helps to better inform and empower patients and parents of children with rare diseases and inspires scientists to expand their research on specific genetic diseases.
Image courtesy Positive Exposure in collaboration with FAST.
More than 50 Years of Experience & Groundbreaking Research
Image courtesy Positive Exposure in collaboration with the Chromosome 18 Registry and Research Society.
Nuestras investigaciones más recientes
Advancing health, scientific discovery and innovation through groundbreaking research on rare diseases.
Leaders in the Science of Rare Disease Care
We’re committed to finding new ways to predict, prevent, diagnose and treat rare conditions, and we believe that every individual with a rare disease deserves the highest level of care. We are leading collaborative research and spearheading numerous studies and clinical trials, some of which are sponsored by the National Institutes of Health (NIH), and translating novel scientific discoveries into new diagnostics and treatments to help improve clinical outcomes and change lives. Through our clinical trials, our patients can access emerging technologies and innovative treatments and cures that are otherwise unavailable.
Our physician-scientists and researchers are conducting basic, translational and clinical research to explore the genetic mechanisms, natural history and care delivery for rare diseases and develop diagnostic and therapeutic solutions for a broad range of rare conditions. From co-developing the clinical guidelines setting the standard of care for acid sphingomyelinase deficiency to spearheading the nation’s largest pilot newborn screening study of its kind for rare disorders, we continue to lead the way in rare disease care and research.
Tecnologías de vanguardia
We offer access to the latest and most advanced technologies to help prevent, detect and treat rare conditions in patients of all ages, from children through their transition to young adulthood and beyond. We have significant success in establishing accurate diagnoses for complex cases that may have previously eluded explanation, and we continue to develop tools to improve the interpretation of variants of unknown or uncertain significance (VUS) and non-coding variants.
We utilize the latest genetic sequencing techniques, including the most advanced, clinically approved sequencing technology, including whole-genome sequencing. With our partners at GeneDx and PacBio, we are offering research diagnostics using long-read DNA and RNA sequencing technology.
We also employ a range of clinical and research diagnostic testing, including DNA methylation profiles, metabolomics, proteomics, immunophenotyping, germline mutation and molecular cytogenetic techniques, machine learning and AI algorithms, and advanced imaging technology.
We are also developing new treatments utilizing advanced gene therapies, cellular, molecular and nano-technologies, AI platforms, laser technology and newly approved medications, including antisense oligonucleotide, monoclonal antibody, substrate reduction and enzyme replacement therapy, gene therapy, stem cell therapy, and molecularly targeted therapeutics. If surgery is needed, our team of world-renowned surgeons offers the latest approaches, including fetal surgery and robotic and minimally invasive surgery, whenever possible.
Transforming Hope into Reality
Imagen cortesía de Positive Exposure en colaboración con la Fundación Wilhelm.
New York Center for Rare Diseases Highlights
-
$14M+
Genetics-related funding from the NIH in 2023
-
13+
Clinical research trials available to patients throughout the tri-state area
-
2,500+
Molecular diagnostic tests performed annually
Conozca al equipo de New York Center for Rare Diseases
Dr. John M. Greally, MD en PhD
Melissa P. Wasserstein, MD
Xiao P. Peng, MD, PhD
Sara S. Rabin-Havt, MD
Nicole Kelly
Nuestro equipo multidisciplinario de expertos reconocidos a nivel nacional e internacional colabora para traducir las investigaciones de vanguardia en nuevas soluciones de diagnóstico y tratamiento. Brindamos atención de vanguardia y, al mismo tiempo, abordamos las necesidades complejas de cada paciente y sus familias para ayudar a mejorar su calidad de vida.
Lysosomal Acid Lipase (LAL) Deficiency Registry (ALX-LALD-501)
-
Fecha de inicio
May 30, 2013
-
Afecciones
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease, Wolman Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2, Acid Lipase Deficiency, LIPA Deficiency, LAL-Deficiency
Bronx Transthyretin Amyloid Cardiomyopathy Database
-
Fecha de inicio
September 23, 2023
-
Afecciones
Transthyretin Cardiac Amyloidosis, Transthyretin Amyloid Cardiomyopathy
A Study Evaluating Gene Therapy with BB305 Lentiviral Vector in Sickle Cell Disease
-
Fecha de inicio
February 14, 2020
-
Afecciones
Anemia drepanocítica
ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders
-
Fecha de inicio
September 30, 2020
-
Afecciones
Bleeding Disorder, Connective Tissue Disorder, Factor IX Deficiency, Factor VIII Deficiency, Hematologic Disorder, Hemophilia, Thrombosis, Platelet Disorder, Rare Bleeding Disorder, Sickle Cell Disease, Thalassemia, Thrombophilia, Von Willebrand Disease
MEK Inhibitor Mirdametinib (PD-0325901) in Patients with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas (ReNeu)
-
Fecha de inicio
September 29, 2019
-
Afecciones
Plexiform Neurofibroma, Neurofibromatosis Type 1 (NF1)
Rett Syndrome Registry (RSR)
-
Fecha de inicio
August 2, 2022
-
Afecciones
Genetic Disease, Genetic Diseases, X-Linked, Rett Syndrome, Rett Syndrome, Atypical, Intellectual Disability, Nervous System Diseases, Neurobehavioral Manifestations, Neurodevelopmental Disorders, Neurologic Disorder, Neurologic Manifestations
ScreenPlus: A Comprehensive, Flexible, Multi-Disorder Newborn Screening Program (ScreenPlus)
-
Fecha de inicio
May 10, 2021
-
Afecciones
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis III-B, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Niemann-Pick Disease, Type C
Nephrotic Syndrome Study Network (NEPTUNE)
-
Fecha de inicio
April 1, 2010
-
Afecciones
Minimal Change Disease (MCD), Membranous Nephropathy, Glomerulosclerosis, Focal Segmental
