12 Leading Experts Advancing Sickle Cell Disease Gene Therapy
When a family receives a sickle cell disease diagnosis, finding the right path to treatment can feel overwhelming. For decades, patients faced a lifetime of pain management, blood transfusions, and progressive organ damage. Now, gene therapy offers something different: the possibility of a cure. This directory connects families and healthcare providers to the institutions, researchers, and companies advancing sickle cell disease gene therapy—and shows how Nome's platform helps families evaluate whether experimental therapies match their specific genetic profile.
From 2023-2024 alone, two gene therapies received FDA approval, with patients reporting over 85% reduction in annual pain events and substantial quality of life improvements. But approval doesn't guarantee access—families still face a complex system of eligibility screenings, trial enrollments, insurance hurdles, and institutional coordination.
1. Children's National Hospital – Innovation District (Washington, DC)
Key Contributors:
Dr. David Jacobsohn, MD, SCM, MBA – Chief of Bone and Marrow Transplantation
Dr. Henna Butt, MD – Pediatric Hematology-Oncology Fellow
Dr. Mamatha Mandava, MD – Pediatric Hematology-Oncology
Children's National Hospital has emerged as a leader in translating gene therapy research into clinical practice for sickle cell disease. The institution's Innovation District brings together experts in CRISPR technology, stem cell transplantation, and clinical trial design to address the complex challenges of delivering personalized therapies.
Major Contributions:
Published comprehensive reviews on gene therapy advancement (2024)
Clinical expertise in both CRISPR-based editing and lentiviral vector approaches
Focus on addressing cost barriers, accessibility challenges, and long-term safety monitoring
Expert Perspective:
Dr. David Jacobsohn emphasizes that "Advancing gene therapy for sickle cell disease requires not just scientific innovation, but also the clinical expertise and systems to deliver it safely and effectively." This operational focus aligns with the reality that scientific breakthroughs alone don't guarantee patient access.
Dr. Mamatha Mandava notes, "It is exciting to see the technology move forward and see how far we have come in a disease where so little progress has been made historically"—a sentiment echoed by families who spent years hearing "there's nothing we can do."
Current Challenges Identified:
Dr. Henna Butt's research highlights ongoing barriers: "Progress in SCD gene therapy has been slowed by high costs, limited accessibility and safety concerns, such as off-target effects… long-term efficacy data is still needed."
How Nome Helps:
While Children's National advances clinical research, Nome's platform provides families with immediate eligibility assessment and connects them to appropriate treatment centers—compressing the journey from diagnosis to treatment coordination.
2. University of Maryland Medical System – Gene Therapy Program
Institution: University of Maryland Medical System
Website: umms.org
The University of Maryland's Stem Cell Transplant and Cellular Therapies program offers both FDA-approved gene therapies and access to clinical trials for sickle cell disease patients. The program serves patients aged 12 years and older, reflecting current FDA approval parameters.
Treatment Approach:
The Maryland program uses a multi-step process:
Collection of patient's own hematopoietic stem cells via apheresis
Genetic modification using CRISPR-Cas9 or lentiviral vectors
Preparative chemotherapy to eliminate diseased cells
Re-infusion of corrected stem cells
Long-term monitoring for safety and efficacy
Clinical Outcomes:
Patients typically see clinical improvement within 6-12 months after treatment
Modified cells produce functional hemoglobin and reduce sickling events
High engraftment success rates in controlled studies
Risk Profile:
All patients receive detailed counseling on potential complications including:
Infection risk during neutropenic period
Chemotherapy-related side effects
Need for lifelong follow-up monitoring
Graft-related complications
How Nome Helps:
Nome assists families in determining eligibility for programs like Maryland's, coordinating referrals, and navigating insurance approval for these complex therapies.
3. Washington University School of Medicine – First Regional Treatment Center
Location: St. Louis, Missouri
Website: medicine.washu.edu
In late 2024, Washington University became the first institution in its region to administer FDA-approved sickle cell gene therapy, marking geographic expansion beyond traditional academic powerhouses on the East and West coasts.
Significance:
This milestone demonstrates that curative gene therapy is moving beyond major metropolitan research centers, bringing treatment closer to families in the Midwest and reducing the burden of relocation for care.
Patient Access:
Accepts referrals from community hematologists
Coordinates with insurance providers to navigate approval process
Manages therapies that can exceed $2 million per patient
How Nome Helps:
For families seeking regional access to gene therapy, Nome's platform identifies which centers like Washington University offer treatment closest to home and manages the complex coordination required.
4. CRISPR Therapeutics and Vertex Pharmaceuticals – Casgevy
Companies: CRISPR Therapeutics / Vertex Pharmaceuticals
Product: Casgevy (exagamglogene autotemcel)
Approval: FDA-approved December 2023
Casgevy represents the first CRISPR-based therapy approved for any disease, marking a milestone not just for sickle cell disease but for gene editing as a therapeutic modality.
Mechanism of Action:
Uses CRISPR-Cas9 to edit the BCL11A gene in patient stem cells
BCL11A normally suppresses fetal hemoglobin production after birth
Editing this gene "reactivates" fetal hemoglobin, which doesn't sickle
Patients produce high levels of functional hemoglobin without needing to directly correct the HBB mutation
Clinical Trial Results:
88% of patients were free from painful vaso-occlusive crises for at least 12 months following treatment
Substantial improvements in daily functioning reported in Blood Advances
Durable responses maintained during follow-up periods
Quality of Life Impact:
As Dr. Josu de la Fuente, PhD, Director of Pediatric Blood and Marrow Transplantation at Imperial College London, noted: "Most research on new therapies like exa-cel tends to focus on improvements in laboratory values, but what is most important… are improvements in their daily life."
Current Status:
Casgevy is now commercially available at select comprehensive sickle cell centers for patients 12 years and older with recurrent vaso-occlusive crises.
How Nome Helps:
Nome's AI analysis determines whether a patient's specific genetic variant makes them a candidate for Casgevy versus alternative approaches, then coordinates access to treatment centers.
5. bluebird bio – Lyfgenia
Company: bluebird bio
Product: Lyfgenia (lovotibeglogene marcelpival)
Approval: FDA-approved December 2023
Lyfgenia uses a lentiviral vector approach rather than CRISPR editing, representing an alternative gene therapy platform with distinct advantages and considerations.
Mechanism of Action:
Uses a modified lentivirus to deliver a functional beta-globin gene into patient stem cells
Gene addition approach (adding correct gene) rather than gene editing
Modified cells produce the therapeutic hemoglobin HbAT87Q, which functions like adult hemoglobin and inhibits sickling
Doesn't require editing the patient's existing genome
Clinical Efficacy:
Recipients showed 85%-95% freedom from severe pain crises
Durable responses maintained during follow-up periods
Significant quality of life improvements documented
Manufacturing Considerations:
According to pharmacist Mary Catherine Cash, PharmD, BCOP, speaking at the Hematology/Oncology Pharmacy Association: "The approval of two new gene therapies... has revolutionized the treatment of SCD and offers hope for a cure."
Patient Selection:
Both Casgevy and Lyfgenia serve patients with severe sickle cell disease, but differences in mechanism, manufacturing, and long-term safety profiles may make one more suitable than the other for individual patients—a determination that requires specialized expertise.
How Nome Helps:
Nome's therapeutic planning provides families with mechanism-level rationale for why Casgevy versus Lyfgenia may work better for their specific case, backed by peer-reviewed literature.
6. Comprehensive Sickle Cell Centers – Multidisciplinary Care Networks
Across the United States, comprehensive centers provide the multidisciplinary infrastructure required to safely deliver gene therapy.
Core Team Members:
Hematologists specializing in hemoglobinopathies
Stem cell transplant physicians
Genetic counselors
Transfusion medicine specialists
Pharmacists with gene therapy expertise
Social workers and patient navigators
Long-term follow-up coordinators
Why Comprehensive Centers Matter:
Gene therapy requires coordination across multiple specialties:
Pre-treatment evaluation and eligibility screening
Stem cell collection and processing coordination
Inpatient care during conditioning chemotherapy
Infection prevention protocols during neutropenic period
Monitoring for engraftment and early complications
Years of safety and efficacy follow-up
These centers manage clinical trials building the evidence base for long-term outcomes.
How Nome Helps:
Nome connects families to comprehensive sickle cell centers with warm referrals and coordinates handoffs between local hematologists and specialized treatment sites.
7. Children's Hospital Association – Policy and Access Advocacy
Organization: Children's Hospital Association
Website: childrenshospitals.org
While not a clinical provider, the Children's Hospital Association plays a critical role in addressing the policy barriers that prevent eligible patients from accessing approved gene therapies.
Advocacy Focus:
Insurance coverage determination and prior authorization streamlining
Medicaid reimbursement for high-cost cell and gene therapies
Geographic equity in treatment center distribution
Workforce development for specialized care teams
The Access Challenge:
Even with FDA approval, families face substantial barriers to accessing gene therapy due to cost, limited treatment centers, and insurance coverage gaps. The Association's work on policy reform directly impacts whether "hope for a cure" translates to actual treatment.
How Nome Helps:
While advocacy organizations work on systemic barriers, Nome addresses individual family needs by navigating insurance authorization strategies and connecting to financial counseling resources.
8. FDA Regulatory Framework for SCD Gene Therapy
Agency: U.S. Food and Drug Administration
Relevant Center: Center for Biologics Evaluation and Research (CBER)
The FDA's regulatory approach to sickle cell gene therapy balances innovation with patient safety, establishing frameworks that enable both clinical trials and commercial availability.
Expedited Programs:
Gene therapies for severe SCD may qualify for:
Breakthrough Therapy designation – intensive FDA guidance during development
Fast Track designation – rolling review of application components
Priority Review – 6-month review timeline vs. standard 10 months
Accelerated Approval – approval based on surrogate endpoints with confirmatory trials required
Safety Monitoring Requirements:
Both approved therapies require:
Long-term follow-up, typically up to 15 years, per FDA guidance for gene therapy products
Mandatory adverse event reporting
Registry enrollment for real-world safety data
Monitoring for delayed complications including off-target editing effects and potential malignancies
How Nome Helps:
Nome's regulatory expertise helps families understand FDA requirements and coordinates with treatment centers to ensure compliance with long-term monitoring protocols.
9. Personalized Medicine Platforms: Nome's Role in Gene Therapy Access
Platform: Nome Operating System for Personalized Therapeutics™
Website: nome.bio
While academic centers and pharmaceutical companies develop gene therapies, families still face a critical gap: How do you determine if your specific genetic variant is amenable to treatment? Which therapy is right for your case? How do you access clinical trials or approved products?
Nome's Five-Step Process for SCD Families:
Step 1: Share Your Diagnosis
Families provide genetic testing results showing their specific HBB gene mutation and sickle cell disease variant (HbSS, HbSC, HbS-beta thalassemia).
Step 2: AI-Generated Summary Report
Nome's system analyzes the genetic variant against published literature, clinical trial eligibility criteria, and treatment mechanism data to assess:
Whether the mutation is amenable to CRISPR editing or gene addition approaches
Eligibility for FDA-approved therapies vs. investigational trials
Likely response based on genotype-phenotype correlations
Step 3: Live Expert Follow-Up
Genetic counselors and rare disease specialists review the AI assessment and provide personalized guidance on:
Which comprehensive sickle cell centers offer appropriate treatment
How to navigate insurance approval for multi-million dollar therapies
Clinical trial enrollment options if commercially approved therapy isn't accessible
Step 4: Execution-Ready Action Plan
Nome delivers detailed next steps:
Specific institutions to contact with warm referrals
Required documentation for treatment evaluation
Insurance authorization strategies
Timeline expectations from evaluation to treatment
Step 5: Ongoing Support
Nome maintains contact throughout the process, helping families manage:
Multi-site coordination when local evaluation connects to distant treatment center
Second opinion consultations with gene therapy specialists
Problem-solving when barriers emerge
Why Nome Matters for SCD:
Gene therapy approval doesn't automatically translate to patient access. Families need:
Genetic variant interpretation – not all sickle cell mutations respond identically to therapy
Eligibility determination – age restrictions, disease severity thresholds, prior treatment history
Geographic coordination – connecting to the nearest qualified center among limited national options
Insurance navigation – securing coverage for experimental or newly approved high-cost therapies
Nome's platform addresses these gaps by synthesizing dozens of scientific papers and databases in minutes rather than months, then connecting families to the right experts with coordinated execution support.
10. Global Gene Therapy Programs and International Access
While this directory focuses primarily on U.S.-based programs, gene therapy development for sickle cell disease occurs globally, with notable centers in Europe and other regions.
Europe:
Imperial College London (Dr. Josu de la Fuente's program)
Clinical trials operating under European Medicines Agency (EMA) oversight
Challenges for International Patients:
Different regulatory frameworks and approval timelines
Limited manufacturing capacity for personalized cell products
Cross-border medical travel requirements
Insurance coverage gaps for experimental treatments
Nome's Global Support:
Nome's platform serves families internationally by:
Connecting to appropriate clinical trials regardless of location
Coordinating with genetic counselors familiar with regional healthcare systems
Providing therapy assessment that informs whether medical travel is warranted
Managing multi-country coordination when treatment occurs outside home country
11. Navigating Gene Therapy Options: Practical Guidance for Families
For families considering sickle cell gene therapy, understanding the practical steps from evaluation to treatment helps set realistic expectations.
Eligibility Criteria (Typical):
Age 12 years or older for approved therapies
Severe sickle cell disease with recurrent vaso-occlusive crises
Adequate organ function (heart, liver, kidneys)
No active infections
Ability to undergo high-dose chemotherapy conditioning
Stable enough for months-long treatment process
Timeline Expectations:
Initial evaluation: 1-2 months
Insurance approval: 2-6 months
Stem cell collection: 1-2 weeks
Cell processing and manufacturing: 2-6 months
Conditioning chemotherapy and infusion: 3-4 weeks inpatient
Engraftment and recovery: 1-3 months
Clinical benefit measurable: 6-12 months
Cost and Coverage:
Treatment costs can exceed $2 million, though long-term healthcare savings from avoiding decades of hospitalizations and transfusions are significant. Insurance coverage is evolving, with both commercial payers and Medicaid developing frameworks for high-cost curative therapies.
How Nome Helps:
For providers evaluating whether gene therapy is appropriate for their sickle cell patients, Nome's Provider Platform delivers:
Concise Provider Brief with prioritized treatment options
Mechanism-level rationale for why specific approaches may work
Citations to peer-reviewed literature supporting recommendations
Chat interface for interrogating the assessment
Turn "no options" into actionable next steps for patients
This transforms the provider's role from navigating complex literature searches to making informed referral decisions backed by synthesized evidence.
12. Patient Advocacy Organizations Driving Gene Therapy Development
Beyond clinical and commercial entities, patient advocacy organizations have accelerated sickle cell gene therapy development through research funding, clinical trial recruitment, and policy advocacy.
Key Organizations:
Sickle Cell Disease Association of America
American Sickle Cell Anemia Association
Sickle Cell Disease Coalition
Foundation for Sickle Cell Disease Research
Contributions:
Funding early-stage research when pharmaceutical investment was limited
Building patient registries that enabled genotype-phenotype correlation studies
Educating communities about clinical trial opportunities
Advocating for insurance coverage of curative therapies
Community Impact:
These organizations address the reality that sickle cell disease disproportionately affects Black and African American communities, where historical medical mistrust and systemic healthcare inequities create additional barriers to accessing cutting-edge treatments.
How Nome Helps:
Nome partners with advocacy organizations to ensure families from underserved communities have equal access to gene therapy eligibility assessment and treatment coordination.
Making Curative Therapy Accessible: From Diagnosis to Treatment
The experts, institutions, and companies profiled here have transformed sickle cell disease from a condition with few options to one with curative potential. From Children's National Hospital's clinical research advancing CRISPR applications to CRISPR Therapeutics and bluebird bio bringing FDA-approved therapies to market, the field has achieved what seemed impossible just a decade ago.
But scientific advancement alone doesn't deliver treatment. Families still face:
Complex eligibility determination requiring genetic variant interpretation
Geographic barriers with limited treatment centers nationwide
Insurance complexity for $2M+ therapies
Coordination challenges across specialized providers and institutions
Information overload when trying to understand which approach is right for their specific case
This is where Nome's platform delivers value—not by replacing the experts and institutions documented here, but by connecting families to them with clarity, speed, and systematic support:
AI-driven genetic analysis determines therapy eligibility in days, not months
Transparent action plans identify which centers and treatments match the patient's profile
Expert coordination manages referrals and handoffs between diagnosis and treatment
Ongoing support eliminates the burden of navigating institutional complexity alone
For families who've heard "you have no options," gene therapy offers hope. Nome ensures that hope becomes treatment—managing the process at every stage so families can focus on what matters: getting their child the cure they deserve.
The science is here. The experts are ready. Let's get to Nome.
