• Skip to main navigation
  • Skip to main content
  • Skip to Footer
  • Navigate Novartis
    • Patients
    • Healthcare Professionals
    • Media
    • Investors
    • Partners
    • ESG
    • Job Seekers
    • Clinical Trials
  • Coronavirus
  • Global
    • Novartis site directory
Novartis logo: a global healthcare company
  • Our Company
    • Our Leadership
      • Board of Directors
      • Executive Committee of Novartis
    • Our Approach
      • Strategy
      • Corporate Responsibility
      • Diversity & Inclusion
      • Partnering
      • People and Culture
    • Our Business
      • Global Product Portfolio
      • Innovative Medicines
      • Novartis Pharmaceuticals
      • Novartis Gene Therapies
      • Novartis Oncology
      • Sandoz
    • Media
      • Newsroom
      • News Archive
      • Multimedia Resources
      • Subscribe to Updates
    • Investors
      • Event Calendar
      • Financial Data
      • Share Data & Analysis
      • Shareholder Information
      • Environmental, Social & Governance
  • Our Focus
    • Disease Areas
      • Cancer
      • Cardiovascular, Renal and Metabolic Medicine
      • Immunology & Dermatology
      • Ophthalmology
      • Neuroscience
      • Respiratory
    • Platforms and Technology
      • Data and Digital
      • Cell & Gene Therapy
    • Novartis Stories
      • Discovery
      • From Our Labs
      • Access to Healthcare
      • Patient Perspectives
      • People and Culture
      • Live Magazine
  • Our Impact
    • Building Trust with Society
      • Corporate Responsibility
      • Ethical Standards
      • Access
      • Environmental Sustainability
    • Global Health
      • Malaria
      • Sickle Cell Disease
      • Chagas disease
      • Leprosy
      • Novartis Foundation
    • ESG Performance and Reporting
      • Materiality Assessment
      • Environmental, Social and Governance
      • Transparency and Disclosures
      • Positions on Key Topics
      • Statements on Key Issues
  • Our Science
    • Research & Early Development
      • Novartis Institutes for BioMedical Research
      • Research Disease Areas
      • Postdoc Program
      • Open Source Science
    • Drug Development at Novartis
      • Novartis Pipeline
      • Clinical Trials
      • Translational Medicine
      • Global Product Portfolio
    • Science Stories
      • Discovery
      • From Our Labs
  • Careers
    • Your Career
      • Global Career Search
      • Teams and Skills
      • Gene Therapies Careers
    • Working at Novartis
      • Diversity & Inclusion
      • People and Culture
      • Corporate Responsibility
    • Career Programs
      • Our Career Programs
      • Students and Scholars
      • Novartis Quantitative Sciences Hackathon
Search
Girl with scarf on her head
  • TwitterTweet
  • FacebookShare
  • Share
    • Twitter
    • Facebook
    • LinkedIn
    • Email
    • Whatsapp
  • Jump to Comments
Stories/Discovery

Quest for rare disease treatments drives researchers

When endocrinologist Ann Taylor was working at Massachusetts General Hospital, she met a woman with McCune-Albright syndrome, a rare disorder that affects the skin, bones and several hormone-producing tissues.

Feb 25, 2014

The woman had many large, pale spots on her skin; her face was crooked; her bones were riddled with lesions; and she had gone through puberty at an early age. At the time, the cause of the syndrome was unknown, so Taylor and her colleagues were forced to treat her symptoms — with recurrent surgeries for bone deformities, for example — without addressing the underlying cause of the condition. Taylor wished she could do more to help.

Now she works at the Novartis Institutes for BioMedical Research (NIBR), where scientists are working toward treatments for more than 40 rare diseases. Her years in the clinic gave her an understanding of the impact rare diseases have on individuals and families — and for their cumulative prevalence. More than 300 million people suffer from one or more of the approximately 7,000 known rare diseases, and Novartis scientists hope to make a difference in some of their lives.

In her current role as global head of the NIBR Program Office, Taylor looks across the organization’s portfolio to ensure that projects are aligned with the overall research approach. In a recent conversation, she discussed the promise and challenge of rare disease research.

Definition of a rare disease

By definition, a rare disease affects just a small fraction of the population — fewer than 200,000 persons in the United States and fewer than 1 in 2,000 in Europe. Why does Novartis work on diseases that affect so few individuals?

Taylor: “It’s not a business decision. We follow the science and evaluate the unmet medical need when selecting projects, which often leads us to rare diseases. We typically focus on a specific molecular pathway, develop a compound that impacts the pathway, and then ask, ‘Which diseases are associated with dysregulation of the pathway?’ It’s very exciting to be working for a company that encourages you to go after a disease that makes sense, even if the potential market isn’t big.”

Why does the science often lead you to rare diseases? 

Taylor: “Some rare diseases have uniform underlying causes, with defects in a single molecular pathway to blame. Common diseases, on the other hand, tend to be more heterogeneous and mechanistically complex, with multiple pathways involved. If we test our drug in a rare disease with a single defective pathway, then we can see if it works as intended before expanding to common diseases where the pathway is one of multiple variables.”

You mentioned that unmet medical need factors into project selection at Novartis. Can you elaborate on that in relation to rare diseases?

Taylor: “Rare diseases were historically overlooked by pharmaceutical companies, and many of them still aren’t understood. There are relatively few approved treatments for them. We’d like to expand the therapeutic arsenal for doctors to use in helping patients. We concentrate on rare diseases that are debilitating where the scientific understanding is strong and where we believe new treatments could significantly improve the lives of patients with these diseases.”

Is there a danger of overpromising?

Taylor: “We have to be extremely careful not to overpromise. If it’s a devastating disease without an approved therapy, patients and their families get very excited about the prospect of a treatment. It’s important for us to convey the clinical research process, including the long timelines involved, and to make sure that patients understand there’s no guarantee that an experimental treatment will work. We can partner with patient advocacy groups — which frequently encourage participation in clinical trials — to help set expectations that match reality.”

How has Novartis adapted clinical trials to address the needs of patients with rare diseases?

Taylor: “Instead of asking patients with a rare disease to visit a separate contract research organization site to participate in a clinical trial, we work to integrate the research into their regular care. We find the experts in a particular disease, clinicians who may or may not have experience in clinical research, and we provide them with infrastructure and training to set up a study site.”

What else can be done to facilitate clinical trials in rare diseases?

Taylor: “We need to do a much better job of characterizing the natural history of these diseases so that we can measure whether or not new treatments are working. Take McCune-Albright syndrome, the disease I encountered at Mass. General. The underlying cause of the syndrome was discovered in 1991, but we still have not found a treatment. If we did have a specific therapy, we would still need more information to figure out how to run a clinical trial. We don’t always know how quickly the average patient with a particular rare disease gets worse, making it difficult for us to determine if an experimental treatment is slowing the rate of progression. To run an effective clinical trial, we must be able to score success.”

Rare Disease Day, the last day of February, sparks awareness-raising activities around the world. 

Rare disease research has exploded in recent years. According to a report by the Institute of Medicine, a branch of the U.S. National Academy of Science, “Scientific and technological advances on many fronts — combined with supportive public policies and private initiatives — offer opportunities to intensify research on the causes and mechanisms of rare diseases and to reduce the number of rare diseases with no or inadequate means of prevention."

Novartis is an industry leader in the development of medicines for rare diseases. More than a dozen Novartis medicines currently on the market have been designated orphan drugs. In addition, more than 60 Novartis compounds in preclinical or clinical development have received “orphan designations.”

Tags: 
Biomedical Research, Future of Healthcare, Rare Diseases
    • TwitterTweet
    • FacebookShare
    • Share
      • Twitter
      • Facebook
      • LinkedIn
      • Email
      • Whatsapp
    • Jump to Comments
  • Print
  • Save

Novartis Stories

View all

RNA strand
Discovery

Take a visual tour of medicines that target RNA

A kidney patient is smiling at the camera
Discovery

New hope for treating inflammatory diseases of the kidney

2D rendering of kidneys
Discovery

Predictive analytics could bring medicines to patients faster

You are here

  1. Home ›
  2. Stories ›
  3. Discovery

Novartis Global

  • Navigate Novartis

    • Patients & Caregivers
    • Healthcare Professionals
    • Investors
    • Media
    • Society & ESG
    • Partners
  • Contact Us

    • Global Contacts
    • Office Locations
    • For Investors
    • For Media
  • About Novartis

    • Our Company
    • Our Focus
    • Our Impact
    • Our Science
    • Our Stories
  • Our Portfolio

    • Global Product Portfolio
    • Global Clinical Pipeline
  • Careers

    • Career Search

Connect with Novartis

  • twitter
  • linkedin
  • youtube
  • facebook
  • instagram
Novartis Site Directory
© 2021 Novartis AG
  • Terms of Use
  • Privacy Policy
  • Contact Us
  • Site Map
  • Cookie Settings

This site is intended for a global audience.