This page is dedicated to the Bronchiectasis 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 Bronchiectasis research study, established at Boston Children’s in 2019, is led by Drs. Benjamin Raby, Ruobing Wang, and Umakanth Katwa and has enrolled 145 patients and their families. The study aims to identify genetic causes of bronchiectasis and provide personalized medicine.

Disease information

Bronchiectasis is a long-term condition where the airways of the lungs become widened, leading to a build-up of excess mucus that can make the lungs more vulnerable to infection. The most common symptoms of bronchiectasis include: a persistent cough that usually brings up phlegm (sputum) and shortness of breath. 

It is estimated that 20-30% of individuals with bronchiectasis have an underlying genetic cause for their condition. Learn more about bronchiectasis at Boston Children’s.

Key outcomes

Key outcomes include diagnostic findings in 4% of patients and candidate findings in 31% that are being researched further.

Participate in research

Physicians may refer their patients with diagnoses of bronchiectasis to Drs. Raby, Wang, and Katwa. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their studies, including the Bronchiectasis study, on Dr. Raby’s research profile.

Patient care

Patients and their families with CP can be seen by an expert multidisciplinary team in the Pulmonary Genetics Program and Pulmonary Medicine. Learn more about bronchiectasis.

Investigators

Divisions

Notable publications by investigators

  1. A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy.
  2. GSDMB/ORMDL3 Rare/Common Variants Are Associated with Inhaled Corticosteroid Response among Children with Asthma.
  3. Gasdermin B, an asthma-susceptibility gene, promotes MAVS-TBK1 signalling and airway inflammation.
  4. Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in Human Bronchial Epithelium.
  5. Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals.
  6. A novel locus for exertional dyspnoea in childhood asthma.
  7. De Novo Generation of Pulmonary Ionocytes from Normal and Cystic Fibrosis Human Induced Pluripotent Stem Cells.

Disease support organizations

COPD Foundation

The COPD Foundation was established to improve the lives of people with COPD, bronchiectasis, and nontuberculous mycobacterial (NTM) lung disease through initiatives that expand services and speed innovations which will make treatment more effective and affordable. We do this through scientific research, education, advocacy, and awareness with the goal of disease prevention, slowed progression, and ultimately a cure.

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