Research
2022 Million Dollar Bike Ride Grant
Team NEHI Warrior was able to raise funds to support yet another NEHI specific medical research grant with our 2022 participation in the Million Dollar Bike Ride. This was our 4th year participating and raising funds for this critical research.
Dr. Nadia Nathan - $87,715 Research Grant
Sorbonne University (France)
Material and methods: Patients will be included in the RespiRare network (Fabre et al. 2022). Patients with a NEHI diagnosis attested by the RespiRare multidisciplinary team (MDT) meeting will be selected. After appropriated consents of the parents, a trio (patient and his two unaffected parents) whole genome sequencing (WGS) will be performed. The identified variants will be studied in terms of in silico pathogenicity and relevance in the context of NEHI pathophysiology. The following gene variants will be selected for comparison between the families: those segregating as new mutations only occurring in affected children and those segregating as recessive traits transmitted from each parent.
Expected results: Identifying molecular causes or predispositions for NEHI is a crucial step in studying the pathophysiology of the disease. This could highlight new pathways of interest that could allow the development of targeted treatments
2021 Million Dollar Bike Ride Grant
With our 3rd consecutive year as a rare disease team we were able to fund not one but TWO NEHI specific research grants. These grants were made possible by our amazing donors and our partnership with the Penn Orphan Disease Center. Congratulations to our 2021 MDBR Grant Recipients!
Dr. Katie Krone - $41,000 Research Grant
Boston Children's Hospital
High Resolution Ventilation and Perfusion MRI Assessment of Neuroendocrine Cell Hyperplasia of Infancy (NEHI) in Infants and Young Children: Technical Feasibility and Direct Clinical Application.
Dr. Adam Gower - $41,000 Research Grant
University of North Carolina at Chapel Hill School of Medicine
Spatial Transcriptomics to Identify Cellular Alterations in NEHI.
2020 Million Dollar Bike Ride Grant
For the 2nd year in a row we were able to work with the Penn Orphan Disease Center to issue a medical research grant. These grants were made possible by the riders, fundraisers, and donors that took part in the 2020 Million Dollar Bike Ride.
$103,000 Research Grant
Dr. Xin Sun of UC San Diego
Dissecting the Genetic and Genomic Basis of NEHI
2020 NORD Grant
For the 2nd year in a row, NEHI and the National Organization for Rare Disorders (NORD) worked together to issue a NEHI specific medical research grant. NEHI Research Foundation sourced all funds and NORD facilitated the RFP and grant issuing process. Thank you to all of our supporters for making this grant a reality.
Dr. Laura Walkup of Cincinnati Children's Hospital Medical Center was awarded the $50,000 grant. The title of her project is "Xe gas-exchange MRI to quantify ventilation, diffusion, and perfusion abnormalities in NEHI". We look forward to seeing what comes of her team's work!
2019 NORD Grant
May 19th, 2020
NEHI Research Foundation and the National Organization for Rare Disorders (NORD) teamed up to issue a $30,000 grant for medical research related to NEHI. All funding was supplied by NEHI Research Foundation and the NORD Research Grant program facilitated the RFP and grant issuing process. NORD reviewed all proposals using the NORD Scientific and Medical Advisory Committee to select the most deserving proposal. We are pleased to announce Dr. Joseph Shieh of UC San Francisco as the grant recipient.
The non-confidential description of Dr. Shieh's research is: Using novel genomic tools to examine the underpinnings of NEHI. We will also develop educational materials for dissemination. Our goal is to improve clinical care for families with NEHI.
2019 Million Dollar Bike Ride Grant
December 12th, 2019
NEHI Research Foundation is pleased to announce that Dr. Lisa Young of Children's Hospital of Philadelphia was selected by the Penn Orphan Disease Center as the recipient of a $60,989 medical research grant. This one‐year grant was made possible by NEHI Research Foundation's participation in the 2019 Million Dollar Bike Ride. NEHI patients and families raised funds totaling $30,000 which were matched by the Penn Orphan Disease Center.
The topic of Dr. Young's research is "Genetic Mechanisms in Neuroendocrine cell Hyperplasia of Infancy (NEHI)" and the description is as follows:
Neuroendocrine cell Hyperplasia of Infancy (NEHI) causes significant pulmonary compromise in young children and no treatment is available beyond supportive care such as supplemental oxygen and nutritional support when needed. There is evidence of underlying genetic mechanisms, though the genes identified to date appear to represent only a small subgroup of NEHI cases. While certain clinical features are consistent and common in all children with NEHI, disease severity is variable and some individuals have been reported to have additional health concerns, suggesting that NEHI may be a genetically heterogeneous disorder.
The studies in this pilot award are designed to identify additional genetic mechanisms for NEHI, thereby providing fundamental knowledge required to advance a programmatic approach to NEHI through (1) informing early diagnosis and/or genetic counseling, (2) advancing understanding of the variable natural history of disease, and (3) facilitating further mechanistic studies and development of novel targeted therapeutics.
Our approach is to expand genetic sequencing efforts utilizing an established cohort of NEHI patients with DNA samples collected, providing opportunity for analysis for variants or shared and intersecting pathways across larger numbers of affected individuals than previously performed. We will also take steps to expand and maintain a cohort of NEHI patients in a longitudinal manner, thereby improving the understanding of clinical features and variable natural history, as well as setting the stage for treatment trials.
Dr. Young's Genetic Research
December 11th, 2018
NEHI Research Foundation is proud to announce that we are supporting Dr. Lisa Young's genetic research initiative by way of a $20,000 directed gift to Vanderbilt University.
While research continues at Vanderbilt University, Dr. Young has accepted a new position at Children's Hospital of Philadelphia (CHOP) and the study has been transferred. New participants will now enroll through CHOP. If you already submitted samples for the study you may be contacted by the team at CHOP to obtain authorization for them to be transferred. If you have not yet signed up for this study please do so by submitting your information below and using the link at the bottom of the page to view study details.