Current Research

chILD RESEARCH PARTICIPANTS WANTED:

Who?
  • Individuals with diagnosis of Childhood Interstitial Lung Disease
Study Components:
  • Complete a questionnaire and phone interview.
  • Blood samples will be collected.
  • Optional visit to Vanderbilt for other possible testing, such as a chest CT scan (adults only) or
  • lung function tests; total visit time up to 4 hours.
  • You will not be compensated for your participation.
If you are interested in participating or would like more information about this study, please e-mail
Study Coordinator: Errine Garnett: Errine.t.Garnett@vanderbilt.edu or phone: 615-343-0539.

Lisa Young, MD
Principal Investigator
Vanderbilt University Medical Center
chILD flyer for a printable flyer about this research project.

NEHI RESEARCH PARTICIPANTS WANTED:

Who?
  • Individuals with diagnosis of Neuroendocrine Cell Hyperplasia of Infancy (NEHI)
Study Components:
  • Complete a questionnaire and phone interview.
  • Blood samples will be collected.
  • Optional visit to Vanderbilt for other possible testing, such as a chest CT scan (adults only) or
  • lung function tests; total visit time up to 4 hours.
  • You will not be compensated for your participation.
If you are interested in participating or would like more information about this study, please e-mail
Study Coordinator: Errine Garnett: Errine.t.Garnett@vanderbilt.edu or phone: 615-343-0539.

Lisa Young, MD
Principal Investigator
Vanderbilt University Medical Center
Nashville, TN
NEHI flyer for download linked here.

Lawrence Nogee Awarded an $80,000 grant from the chILD Foundation and ATS Foundation

The ATS Foundation and the chILD Foundation have awarded Lawrence Nogee, MD, of Johns Hopkins University a grant for $80,000 to support his research in pediatric interstitial lung disease. Children’s interstitial lung disease (chILD) is the name for a group of illnesses that cause chronic breathing problems in children. In many children, the cause of their disease is unknown, which creates substantial barriers to treatment.

Dr. Nogee’s research will expand upon the results of an earlier study in which he found that three siblings with similar clinical symptoms each had a mutation in the CCR2 gene. In his current project, Dr. Nogee will try to amass further evidence that this mutation causes certain interstitial lung diseases. To do this, he will characterize how the CCR2 protein (coded by the CCR2 gene) behaves in people with this mutation. He will also test other children who have chILD to see if they have the genetic mutation. According to Dr. Nogee, “Collectively, these studies will establish whether CCR2 is the proximate cause of lung disease in these children and its potential role in chILD. Proving that a problem in this gene can cause lung problems will also be important information to researchers who are targeting this gene as a possible therapy for other diseases.”

Our portion of the grant funding was made possible through the fundraising efforts of the John Schwalm and the donors from the Crouch Girls FirstGiving Page. Their funds were designated for unknown familial lung disease and Dr. Nogee’s was selected from many applications by the ATS Foundation review board. We thank you for your efforts and look forward to the outcome of this promising research.

Dr. Lawrence Nogee John’s Hopkins University

Dr. Lisa Young Awarded $50,000 for NEHI Research

Lisa R. Young, MD, Associate Professor of Pediatrics and Medicine at Vanderbilt University School of Medicine, is the recipient of an American Thoracic Society Foundation/chILD Foundation/chILD (Lung) Foundation-UK Research Award in NEHI. The grant provides $50,000 in funding to support her project entitled “Genetic Discovery in Familial Neuroendocrine Cell Hyperplasia of Infancy.”

Neuroendocrine cell Hyperplasia of Infancy (NEHI) is a poorly understood disorder which most commonly causes fast breathing and low oxygen levels in young infants. The symptoms last for years, and there are currently no effective therapies. There are some families in which more than one individual has NEHI, suggesting that NEHI might be inherited in some cases. The strategies proposed in Dr. Young’s project evaluate the clinical manifestations of NEHI in families and will enable the most efficient approach for determining the genetic cause(s) of NEHI. Identifying the genetic cause of NEHI will enable less invasive diagnosis of NEHI and provide knowledge which holds promise for developing future therapies for this disease.

Dr. Lisa Young Vanderbilt University School of Medicine

Dr. Robin Deterding Awarded $35,000 for NEHI Research

Robin Deterding, MD
Dr. Robin Deterding Children’s Hospital Colorado

Robin Deterding, MD, a Professor of Pediatrics at the University of Colorado Denver, is a recipient of the ATS Foundation/chILD Foundation/La Fundación Pequeños Pulmones Research Award. The grant provides $35,000 in funding to support her project entitled “Novel Proteomic Profiles in Neuroendocrine Cell Hyperplasia of Infancy (NEHI).”

Neuroendocrine cell hyperplasia of infancy (NEHI) is a disease of young children that delays growth and necessitates years of oxygen use. Before they are definitively diagnosed with NEHI, suspected patients undergo multiple expensive and risky diagnostic tests that include CT scans and lung biopsy. Dr. Deterding and her team will develop an alternative and less invasive diagnostic tool to improve the safety and efficacy of NEHI diagnosis. Dr. Deterding will also help identify novel biomarkers for disease severity and prognosis, which will allow families to better understand the disease course and risks for their children.

chILD Foundation awarded Rare99X grant from Rare Genomics Institute

In 2012, the chILD Foundation submitted two grant applications to the Rare99X Project offered by the Rare Genomics Institute. One grant application was accepted for funding and several families that have multiple children affected by Neuroendocrine Hyperplasia of Infancy (NEHI) will have exome sequencing done to look for common genetic mutations among NEHI patients. The data obtained from this testing will be shared with our researchers and will be used to elevate our understanding of familial NEHI.

Dr. Ikonomou Awarded $80,000 for Pediatric Lung Research

Laertis Ikonomou, PhD, assistant professor of medicine at Boston University School of Medicine, was the recipient of an American Thoracic Society Foundation/Children’s Interstitial Lung Disease Foundation Grant to study genetic mutations in children with interstitial lung disease (chILD).

In 2012, we funded the second year of this ground-breaking research. (The grant provided $40,000 in funding for two years.) A subset of children suffering from interstitial lung diseases (chILD) carry mutations in NKX2-1, a gene important for the development and function of the respiratory system. There is currently no treatment beyond supportive care for those with chILD disorders, due in part to a lack of understanding of the pathogenesis of the disease. This proposal develops a novel system potentially able to model lung disease in vitro, focusing on the least understood chILD variant arising from NKX2-1 mutations. Fibroblasts obtained from individuals with chILD will be converted into pluripotent stem cells using state of the art reprogramming techniques. These stem cells will be differentiated into lung epithelial cells in an effort to establish the first in vitro model of lung disease using patient-specific/disease-specific stem cells. If successful, this model system may serve as a powerful high throughput drug screening system potentially leading to the discovery of novel therapeutics to alleviate or even reverse the course of chILD illnesses.

For more information on this grant please visit the Watch and Learn page for a video presentation of this research.