This page is dedicated to the Interstitial and Diffuse Lung Disease research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Interstitial and Diffuse Lung Disease research study, established at Boston Children’s in 2019 and led by Drs. Benjamin Raby, Martha Fishman, and Alicia Casey, has enrolled more than 200 patients and their families. The study aims to identify genetic causes of interstitial and diffuse lung disease and provide personalized medicine.

Disease information

Interstitial and diffuse lung disease (ILD) is a group of rare lung diseases that range from mild to severe and can make it difficult to breathe. The diseases can interfere with the exchange of oxygen and carbon dioxide and can cause fluid and other materials to collect in the lungs.

Currently, there are at least 35 genes known to be causative of ILD. Learn more about ILD at Boston Children’s.

Key outcomes

Key outcomes include changes in treatment plans for 5% of patients, discoveries of new treatment modalities, and candidate findings in 31% of patients that are being researched further.

Participate in research

Physicians may refer their patients with ILD to Drs. Raby, Fishman, or Casey. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their studies on their research profiles: Dr. Raby, Dr. Fishman, Dr. Casey. 

Patient care

Patients and their families with ILD can be seen by an expert multidisciplinary team in the Interstitial Lung Disease Program at Boston Children’s.

Investigators

Divisions

Notable publications by investigators

  1. A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy.
  2. Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach.
  3. Development, Progression, and Mortality of Suspected Interstitial Lung Disease in COPDGene.
  4. GSDMB/ORMDL3 Rare/Common Variants Are Associated with Inhaled Corticosteroid Response among Children with Asthma.
  5. Gasdermin B, an asthma-susceptibility gene, promotes MAVS-TBK1 signalling and airway inflammation.
  6. Suspected Interstitial Lung Disease in COPDGene Study.
  7. Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in Human Bronchial Epithelium.
  8. Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals.
  9. A novel locus for exertional dyspnoea in childhood asthma.
  10. Approach to the patient with Childhood Interstitial and Diffuse Lung Disease.
  11. The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort.
  12. Innovations in the care of childhood interstitial lung disease associated with connective tissue disease and immune-mediated disorders.
  13. Childhood Interstitial Lung Disease (chILD): shining a new light on childhood!
  14. Overview of the ChILD Research Network: A roadmap for progress and success in defining rare diseases.

Disease support organizations

Children’s Interstitial and Diffuse Lung Disease Foundation

Children’s Interstitial and Diffuse Lung Disease Foundation is a nonprofit organization whose mission is to accelerate research to cure all forms of children’s interstitial and diffuse lung disease.

NEHI Research Foundation

NEHI Research Foundations works to improve the diagnostic process, find treatments, and ultimately cure all forms of children’s interstitial lung disease through the support of research.

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