List of Resources For Rare Disease Patients In New York
When you receive a rare disease diagnosis with limited treatment options, you need actionable resources immediately. New York's rare disease ecosystem spans specialized clinical diagnostics, community support, financial assistance, and emerging treatment pathways—this guide helps you access them.
Key Takeaways
An estimated 300 million people worldwide live with a rare disease (approximately 3.5–5.9% of the global population)—yet more than 95% of rare diseases have no FDA-approved treatment
Montefiore Einstein's Advanced Diagnostics Program uses long-read DNA and RNA sequencing for select undiagnosed cases, with thousands of molecular diagnostic tests processed annually
Active clinical trials throughout the tri-state area provide research participation opportunities (search current trials at ClinicalTrials.gov)
Financial assistance programs including 24/7 helpline access, SNAP, HEAP, and Medicaid serve New York families facing food, housing, and healthcare cost barriers
Personalized therapeutic development when traditional pharma offers no solutions
1. New York Center for Rare Diseases at Montefiore Einstein – NORD Center of Excellence
The New York Center for Rare Diseases at Montefiore Einstein serves patients throughout the tri-state area with specialized genetics expertise and advanced diagnostic capabilities.
Genetics Clinic Services
The Genetics Clinic serves children and adults under the direction of Dr. Melissa Wasserstein, MD.
Services Include:
Comprehensive genetic evaluations and consultations
Thousands of molecular diagnostic tests performed annually
Advanced genomic sequencing technologies
Both internal and external patient referrals accepted
Contact: (718) 741-2323
Visit: Montefiore Rare Diseases contact page for current contact information
Advanced Diagnostics Program for Unsolved Cases
The Advanced Diagnostics Program specifically addresses patients who remain undiagnosed despite previous genetic testing. This program recruits from rare disease clinics across Montefiore.
Advanced Technologies Applied:
Long-read DNA and RNA sequencing
Natural language processing phenotyping
Cellular functional studies
Non-coding genome analysis
Specialized analysis for understudied populations
This program serves patients of any age who have undergone extensive medical evaluation without reaching a diagnosis—addressing the diagnostic odyssey that burdens many rare disease families.
Active Clinical Research
Active clinical trials are available to patients throughout the tri-state area, providing opportunities to access emerging therapies while contributing to treatment development. Search current opportunities at ClinicalTrials.gov.
The center operates with significant NIH genetics research funding, supporting both diagnostic innovation and translational research.
2. National Organization for Rare Disorders (NORD) – Patient Information and Support
NORD serves as the leading rare disease patient advocacy organization nationwide with comprehensive support programs accessible to New York residents.
GARD Information Center
The Genetic and Rare Diseases (GARD) Information Center, run by NIH/NCATS and NHGRI, provides free, current, reliable health information on genetic and rare diseases.
Resources Available:
Disease-specific information sheets
Treatment options and clinical trial matching
Specialist referrals
Community connection to other patients
RareCare Financial Assistance Programs
NORD's financial assistance programs address medication costs, insurance premiums, diagnostic testing, and travel expenses.
Program Components:
Life-saving medication coverage
Insurance premium assistance
Diagnostic testing support
Travel assistance for clinical trial participation
Rare Caregiver Respite Program offers limited financial assistance (amounts and eligibility vary)
Contact: (800) 999-6673
Applications: For current details and application instructions, visit NORD's assistance page
3. Ronald McDonald House New York – Family Community and Housing Support
Ronald McDonald House New York provides safe residential spaces and community connection for families with children facing rare disease challenges.
Why Community Matters
Many patients with rare conditions have never met another person with their diagnosis. Ronald McDonald House creates spaces where families connect with others experiencing similar challenges—providing both practical guidance and psychological support that clinical care alone cannot deliver.
Services Offered:
Residential accommodation during treatment
Community spaces for family connection
Rare Disease Day programming and awareness events
Support reducing isolation for families
4. New York State 211 Helpline – 24/7 Resource Connection
The 211 helpline operates continuously to connect New York residents with housing, food, transportation, and care assistance. New York residents can also access localized resources at 211NYS.org.
Available Resources:
Housing assistance and emergency shelter
Food pantries and meal programs
Transportation services
Healthcare enrollment support
Utility payment assistance
Caregiver support services
Access: Dial 211 from any phone, 24 hours daily
This single entry point eliminates the burden of navigating fragmented social services independently.
5. New York Healthcare Insurance and Financial Assistance Programs
New York offers coordinated financial assistance addressing healthcare costs, food security, housing, and utilities.
Medicaid Enrollment
New York State Medicaid provides comprehensive coverage for eligible individuals; coverage of genetic testing and other services depends on medical necessity and plan policies.
Contact: New York State of Health at nystateofhealth.ny.gov for income-based insurance options
SNAP (Supplemental Nutrition Assistance Program)
SNAP helps families afford food, addressing food insecurity that impacts treatment adherence and health outcomes.
Home Energy Assistance Program (HEAP)
NYS HEAP provides financial assistance for heating costs—reducing the burden of utility expenses for families managing medical costs.
Caregiver Support Services
New York State Office for the Aging (NYSOFA) and NY Connects provide statewide caregiver support programs, including respite care and resources for managing the demands of rare disease care coordination. Additional resources are available through the national Caregiver Action Network.
6. Patient Advocacy in Nursing – Clinical Workflow Integration
Nurses play critical roles in rare disease patient support through care coordination, treatment decision support, and multidisciplinary team collaboration.
Clinical Responsibilities:
Care coordination across multiple specialists
Genetic counseling partnerships
Informed consent processes for emerging therapies
Clinical trial enrollment support
Patient and family education
Nurses stay current on emerging therapies, understand genetic test results, and connect patients with appropriate specialists, registries, and, where appropriate, vetted platforms that support research or experimental therapy navigation when conventional options are exhausted.
7. Staying Current on Rare Disease Research and Treatment Options
Families often struggle to distinguish between passive literature searches and actionable treatment pathways.
Evidence Sources for Rare Disease Information
Reliable Databases:
PubMed for peer-reviewed scientific literature
ClinicalTrials.gov for ongoing research studies
NCATS Rare Diseases Clinical Research Network for collaborative studies on over 200 rare diseases
Disease-specific patient registries
NORD Rare Disease Database
When Technology Accelerates Information Processing
Traditional literature review requires months for comprehensive analysis. AI-powered systems can analyze scientific papers and databases more quickly—but the critical difference is expert validation and translation into patient-specific options.
For families facing progressive conditions where time matters, Nome's patient journey platform transforms genetic test results into AI-generated, expert-reviewed reports that score whether personalized therapy is possible and outline specific next steps.
8. Clinical Trials and Experimental Therapy Access
NCATS Rare Diseases Clinical Research Network
The NIH's RDCRN oversees medical research on over 200 rare diseases through clinical studies, collaborations, and data sharing designed to speed treatment development.
Network Benefits:
Multi-site collaborative research
Patient enrollment opportunities
Data sharing to accelerate discovery
Family participation in treatment advancement
Understanding Experimental Treatment Pathways
Clinical Trials: Structured research studies testing new therapies with defined enrollment criteria, randomization, and regulatory oversight.
Expanded Access Programs: Also called compassionate use—pathways for patients to access investigational therapies outside clinical trials when no alternative exists.
N-of-1 Trials: Personalized experimental therapies developed for individual patients, particularly relevant for ultra-rare genetic conditions. These approaches typically require IRB approval and, in the U.S., FDA authorization (e.g., individual patient IND) or use of Expanded Access pathways.
Why Traditional Pharma Doesn't Serve Ultra-Rare Conditions
Pharmaceutical companies require financial incentives to develop treatments. For conditions affecting small patient populations, conventional drug development models fail economically.
This creates a gap where the science exists to develop personalized therapies, but operational complexity and funding barriers prevent families from accessing these treatments. Nome addresses this gap by coordinating geneticists, research labs, manufacturers, regulators, and providers—turning "no options" into clear experimental therapy pathways.
9. Genetic Testing and Diagnosis Resources
Comprehensive Genetic Diagnostic Services
The New York Center for Rare Diseases provides multiple genetic diagnostic approaches:
Testing Technologies:
Whole genome sequencing
Exome analysis
Long-read DNA sequencing
RNA sequencing
Variant interpretation
Pathogenic mutation analysis
Who Should Seek Genetic Testing:
Patients with undiagnosed conditions with suspected genetic basis
Families with multiple affected members
Individuals with rare disease symptoms matching genetic syndromes
Patients seeking diagnosis confirmation for treatment planning
After Diagnosis: What Comes Next
Receiving a genetic diagnosis answers critical questions but often raises new ones—particularly when no approved treatment exists.
Immediate Steps:
Connect with disease-specific patient advocacy organizations
Request genetic counseling to understand inheritance patterns
Evaluate whether experimental therapies or clinical trials exist
Assess whether your specific mutation is amenable to emerging treatment platforms
As one option, families may explore third-party platforms that review genetic data for potential research or experimental therapy pathways. Nome provides evaluations that determine therapeutic feasibility and outline detailed next steps.
10. Educational and School Support Services for Children
About half of people affected by rare diseases are children, making educational accommodations essential for quality of life and development.
Special Education Rights in New York
Individualized Education Programs (IEPs):
Customized learning plans for children with disabilities
Related services including occupational therapy, physical therapy, and counseling
Annual review and modification based on progress
504 Plans:
Accommodations for students who don't require specialized instruction but need support
Medical accommodations for rare disease management during school hours
Accessibility modifications
Coordinating Medical Care with School Services
Key Considerations:
School nurse coordination for medication administration
Homebound instruction for students unable to attend due to medical needs
Transition planning for students with progressive conditions
Communication protocols between medical team and school staff
11. Emerging Personalized Medicine Platforms
The past decade has shown that personalized therapies for rare diseases are scientifically possible. A small but growing number of individualized therapies have been reported, such as the Milasen case for Batten disease, demonstrating that a new approach to rare disease treatment works.
However, this process remains difficult, expensive, and slow—primarily because of operational barriers rather than scientific limitations.
The Operational Complexity Challenge
Developing a personalized therapy requires coordinating:
Genetic analysis and mutation characterization
Therapeutic approach selection (gene therapy, ASO, small molecule, etc.)
Preclinical testing design and execution
Contract manufacturer identification and negotiation
Regulatory pathway navigation
Institutional review board approvals
Clinical site coordination
Treatment administration and monitoring
How AI Addresses the Scaling Problem
AI tools may help coordinate complex workflows (e.g., identifying qualified manufacturers and timelines), but expert review and regulatory oversight remain essential.
Nome's Operating System for Personalized Therapeutics coordinates all complex pieces—geneticists, research labs, manufacturers, regulators, and providers—similar to how an operating system manages computer functions.
Nome's 5-Step Patient Journey
Share Your Diagnosis - Submit genetic test results and medical history through Nome's secure platform.
Summary Report - Receive a free, AI-generated, expert-reviewed evaluation scoring whether custom therapy is possible for your specific mutation.
Engage with the Team - Live follow-up support to explore feasibility, timelines, and requirements in detail.
Action Plan - Execution-ready, highly detailed next steps tailored to your genetic profile and disease progression.
Ongoing Support - Nome remains involved throughout the development process, regulatory approvals, and treatment delivery.
Take Action: Your Path Forward
New York offers robust rare disease support across clinical diagnostics, community connection, financial assistance, and emerging treatment development.
Start Today:
For diagnostic needs: Contact the New York Center for Rare Diseases Genetics Clinic at (718) 741-2323 or explore the Advanced Diagnostics Program for unsolved cases
For immediate financial assistance: Call 211 (24/7) or visit 211NYS.org to connect with food, housing, and utility support
For community connection: Reach out to Ronald McDonald House New York or disease-specific advocacy organizations through NORD
For treatment options beyond conventional care: As one option, families may explore third-party platforms that review genetic data for potential research or experimental therapy pathways
Frequently Asked Questions
What qualifies as a rare disease in the United States?
A rare disease affects fewer than 200,000 people in the United States. However, collectively, an estimated 300 million people worldwide live with a rare disease—approximately 3.5–5.9% of the global population. Despite individual rarity, more than 95% of rare diseases have no FDA-approved treatment, making resource coordination and emerging therapy access critical.
How do I find patient advocacy organizations for my specific rare disease in New York?
Start with NORD's directory which connects families to disease-specific advocacy organizations nationwide. Additionally, genetic counselors at the New York Center for Rare Diseases can provide referrals to appropriate advocacy groups during diagnostic consultations.
What should I do if my child receives a rare disease diagnosis with no existing treatment options?
First, connect with the diagnostic team's genetic counselor to understand the specific mutation and inheritance pattern. Then, simultaneously pursue: (1) disease-specific patient advocacy organizations through NORD for community support and research updates, (2) clinical trial searches through ClinicalTrials.gov and the NCATS RDCRN network, and (3) evaluation of whether your child's specific genetic variant is amenable to personalized therapeutic approaches. For children facing progressive conditions, platforms like Nome provide evaluations that assess whether custom therapy development is scientifically feasible and outline realistic timelines.
Where can I access genetic testing and counseling services in New York State?
The New York Center for Rare Diseases Genetics Clinic at (718) 741-2323 serves both children and adults with comprehensive genetic evaluation. The center processes thousands of molecular diagnostic tests annually and accepts both internal and external referrals. For previously unsolved cases, the Advanced Diagnostics Program uses long-read sequencing and advanced phenotyping. Genetic counseling helps families understand test results, inheritance patterns, and treatment implications—critical for making informed decisions about next steps.
Will New York health insurance cover experimental or personalized therapies for rare diseases?
Coverage varies significantly by insurance plan and therapy type. Medicaid provides comprehensive coverage for eligible individuals; coverage of genetic testing and other services depends on medical necessity and plan policies. Experimental therapies often require appeals, expanded access pathways, or clinical trial enrollment. NORD's financial assistance programs help with medication costs when insurance denies coverage. For personalized therapies, platforms like Nome work with families to address insurance pre-authorization and explore available funding options during treatment planning.
