New York Center for Rare Diseases
- New York
Director(s): John Greally, DMed, PhD, Melissa Wasserstein, MD
Contact information
Genetics Clinic
Serves children and adults
Clinic Doctor: Melissa Wasserstein, MD
(718) 741-2323
The New York Center for Rare Diseases (NYCRD) Advanced Diagnostics Program
The NYCRD Advanced Diagnostics Program is a partnership between Montefiore Einstein and GeneDx, the diagnostics company, and PacBio, the sequencing technology company. We are recruiting patients who remain unsolved despite clinical genomic diagnostics. All rare diseases and ages are eligible for this study. We apply long-read DNA and RNA sequencing on patients and family members, advanced phenotyping using Natural Language Processing (NLP) and cellular studies, innovative computational analytical pipelines, and direct clinician input into phenotype curation and variant and disease evaluation. We specialize in using information from the non-coding genome in clinical diagnostics, and addressing the challenges of diagnostics in understudied populations. Dr Xiao Peng is the Director of the Advanced Diagnostics Program, which recruits patents from the 40 rare disease clinics at Montefiore.
Serves: Children and Adults
Referrals: Internal and external referrals are accepted. Clinician referral required to provide background medical information for patient.
Patients can contact the Program through the webpage or by emailing [email protected]
A clinician referral option is also located on the webpage.
ADAM Aerodigestive Program at Montefiore
Serves Children
Clinic Doctor: Michel Nassar, MD
(718) 920-4646
Cardiac Amyloidosis
Serves children and adults
Website in development
Clinic Doctor: James Tauras, MD
(929) 263-3729
Cardiac Sarcoidosis Clinic
Serves children and adults
Website in development
Clinic Doctor: Yogita Rochlani, MD
(718) 290-2248
Center for Rett Syndrome
Serves children and adults
Clinic Doctor: Aleksandra Djukic, MD
(718) 920-4378
Comprehensive Epilepsy Center
Serves children and adults
Clinic Doctors: Solomon L. Moshe, MD & Sheryl Haut, MD
For Adult Epilepsy: (718) 920-4898; For Child Epilepsy: (718) 920-4378
Craniofacial Center
Serves children and adult
Clinic Doctor: Oren Tepper, MD
(718) 405-8337
Hemophilia Treatment Center
Serves children and adults
Clinic Doctors: Henry Billett, MD, Adult Director; Jennifer Davila, MD, Pediatric Director
(718) 741-2351
LINCS (Linking Individual Needs of Children with Services) Complex Care Program
Serves Children
Clinic Doctor: Ronald C. Samuels, MD
(718) 741-2450
Lupus Nephritis Clinic
Serves children and adults
Clinic Doctors: Beatrice Goilav, MD; Dawn M. Wahezi, MD; and Diana H. Lee, MD
(718) 655-1120
Neurocutaneous Clinic
Serves children and adults
Website in development
Clinic Doctor: Susan Duberstein, MD
(718) 920-4378
Neuromuscular Unit of Pediatric Neurology
Serves Children
Clinic Doctor: Leslie Delfiner, MD
(718) 920-4378
Sickle Cell Disease Program
Serves children and adults
Clinic Doctors: Deepa Manwani, MD and Kerry Morrine, MD
(914) 377-8690
Thrombosis Prevention Treatment Program
Serves children and adults
Website in development
Clinic Doctor: Henny Billett, MD
(718) 920-6310
Tuberous Sclerosis Complex Clinic
Serves children and adults
Website in development
Clinic Doctor: Nagma Dalvi, MD
(718) 920-4378
Williams Syndrome Clinic
Serves children and adults
Clinic Doctor: Robert Marion
(718) 741-2514
