2020 NORD Grant

June 22nd, 2020

For the 2nd consecutive year NEHI Research Foundation is funding a grant through the National Organization for Rare Disorders (NORD). One grant of up to $50,000 is being offered. The initial application deadline is August 25th, 2020. The grant is open to all US and international researchers interested in conducting research into NEHI.

Information regarding the request for proposals can be found on NORD's website here.

2019 NORD Grant

May 19th, 2020

Dr Joseph Shieh.jpg

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.

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Thank you for your interest. Please click "Get Enrolled" at the bottom of this page for enrollment details.