Newsroom and Resources

Educational and Practical Resources

Rare Opportunities in Primary Care, formerly called the Association for Comprehensive Care in Rare Diseases (ACCORD), has conducted its own original research on issues related to primary care for patients with rare diseases. 

Poster: Common Primary Care Issues That Arise When Treating Patients With Rare Diseases

White Paper: Rare Diseases: Common Medical Needs

White Paper: How Do Primary Care Clinicians Get Information on Rare Diseases?

Diagnosis

• Diseases and Conditions (Mayo Clinic)
• Undiagnosed Diseases Network (National Institutes of Health)
• Orphanet: Search by Sign (Orphanet)

Genetic testing

• GeneTests (GeneTests)
• Genetic Testing (Global Genes)
• Find a Genetic Counselor (National Society of Genetic Counselors)
• Online Mendelian Inheritance in Man: An Online Catalog of Human Genes and Genetic Disorders (Johns Hopkins University)
• Your Guide to Understanding Genetic Conditions (National Institutes of Health)

Optimizing care for pediatric patients

• American Academy of Pediatrics Treatment Guidelines
• • Achondroplasia
  • Down syndrome
  • Fragile X syndrome
  • Marfan syndrome
  • Neurofibromatosis
  • Prader-Willi syndrome
  • Turner syndrome
• Bullying and Youth with Disabilities and Special Health Needs (U.S. Department of Health & Human Services)
• Developmental Disabilities Literacy Promotion Guide for Pediatric Healthcare Providers (Reach Out and Read)

Referral networks

• Joint Principles of the Patient-Centered Medical Home (American Academy of Family Physicians, American Academy of Pediatrics, American College of Physicians, American Osteopathic Association)

Transitions of care

• American College of Physicians Pediatric to Adult Care Transitions Initiative: Condition-Specific Tools (American College of Physicians)
• Six Core Elements of Health Care Transition 2.0: Transitioning to an Adult Approach to Health Care Without Changing Providers (Got Transition)

Treatments

• Medicines in Development for Rare Diseases: A Report on Orphan Drugs in the Pipeline (Pharmaceutical Research and Manufacturers of America)
• American College of Emergency Physicians: Clinical and Practice Management (American College of Emergency Physicians)
  

Vaccinations

• Who Should NOT Get Vaccinated with these Vaccines? (Centers for Disease Control and Prevention)

Financial resources

• First Hand Foundation 
• Ralph Braun Foundation
• Medically Fragile Community Based Waiver Programs (state based)
• Supplemental Security Income (Social Security Administration)

Diagnosis

• A prospective, randomized, controlled study demonstrating a novel, effective model of transfer of care between physicians: the 5 Cs of consultation
• Clinical features and neuroimaging (CT and MRI) findings in presumed Zika virus related congenital infection and microcephaly: retrospective case series study
• Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
• Growth charts for children with Down syndrome in the United States
• Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening
• Motor delays: early identification and evaluation
• Ways to identify children with medical complexity and the importance of why
  

Genetic testing

• GeneReviews

Optimizing pediatric care

• Children with medical complexity: an emerging population for clinical and research initiatives
• Functional difficulties and health conditions among children with special health needs
• Mental health care services for children with special health care needs and their family members: prevalence and correlates of unmet needs

Transitions of care

• Supporting the health care transition from adolescence to adulthood in the medical home

Vaccinations

• 2013 IDSA clinical practice guideline for vaccination of the immunocompromised host
• Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close-contacts

• About Special Kids (ASK)
• American College of Emergency Physicians (ACEP)
• Genetic and Rare Diseases (GARD) Information Center
• Global Genes
• Got Transition
• National Center for Medical-Legal Partnership
• National Organization for Rare Disorders (NORD)