Rare diseases at a glance

This page provides an overview of rare diseases and why diagnoses are important. For more specific information on individual rare diseases and their dedicated research studies, please use the dropdown menu either above or to the left.

Twenty people with one in a different color

Collectively rare diseases are common affecting 5% of people

Three stacked calendars

5 years to diagnosis

3 misdiagnoses

8 doctors

magnifying glass over dna strand

80% of rare diseases are associated with genetic variants

Rare diseases are conditions that affect a small percentage of the population. In the United States, a disease is classified as rare if it affects fewer than 200,000 people. These diseases can be genetic, infectious, or degenerative and often present unique challenges in diagnosis and treatment.

  • Statistics: There are over 7,000 known rare diseases, impacting approximately 300 million people worldwide.
  • Genetic links: Around 70% of rare diseases have been linked to genetic causes.
  • Challenges: Patients frequently face delayed diagnoses and limited treatment options due to barriers such as restricted access to genetic testing and the complexity of identifying rare conditions.

The power of a diagnosis

Receiving a diagnosis for a rare or undiagnosed disease can be transformative:

  • Clarity and validation: It provides answers to patients and families who may have spent years searching for a reason behind their symptoms.
  • Access to treatment: A diagnosis enables access to targeted therapies, specialized care, and clinical trials.
  • Empowerment: Patients gain knowledge about their condition, which helps them make informed health decisions and plan for the future.

Ultimately, a diagnosis brings hope and the possibility of improved quality of life.

Early and accurate diagnosis

At Boston Children's Hospital, we emphasize the importance of quick and accurate diagnosis:

  • Advanced tools: We use cutting-edge research and diagnostic technologies to identify rare diseases promptly and precisely.
  • Benefits of early diagnosis: An early diagnosis can lead to better treatment plans, improved quality of life, and the opportunity to participate in clinical trials.

Personalized care

With a diagnosis in hand, we can provide care tailored to each patient’s unique needs:

  • Targeted therapies: Treatments are customized based on the genetic and molecular understanding of the disease.
  • Specialized support: Patients receive comprehensive medical care and support services that address their specific condition.
  • Family-centered approach: Our team collaborates closely with families to ensure the best possible outcomes.

Research and innovation

Boston Children’s Hospital is at the forefront of rare disease research:

  • Understanding the causes: We study the genetic and molecular basis of rare diseases to uncover their underlying mechanisms.
  • Developing treatments: Our research aims to improve existing treatments and create new therapies for rare conditions.
  • Collaborative approach: We bring together experts from diverse fields to tackle the complexities of rare diseases.

Community and support

A diagnosis connects patients and families to a broader support network:

  • Patient advocacy groups: Families gain access to organizations that provide emotional and practical support.
  • Educational resources: Patients and families receive information to better understand and manage their condition.
  • Comprehensive care: Our care addresses both medical and psychosocial needs, ensuring that families feel supported throughout their journey.