# Human Clinical Phenotyping (HCP) Core

> **NIH NIH U54** · ALBERT EINSTEIN COLLEGE OF MEDICINE · 2020 · $200,400

## Abstract

ABSTRACT 
The objective of the Human Clinical Phenotyping Core (Core B, HCP) is to promote excellence in human 
phenotyping, with a central mission to facilitate research on intellectual and developmental disabilities (IDDs) 
by a diverse interdisciplinary team of investigators across the Einstein/Montefiore campuses. To this end the 
HCP provides recruitment and sophisticated human phenotyping services for IDDRC investigators (Aim 1). The 
HCP implements an extensive program of community outreach and recruitment to increase diversity in 
research on intellectual and developmental disabilities and expose local children to the wonders of science and 
research (Aim 2). The HCP maintains an extensive and actively growing database of potential research 
participants (Aim 3) that, in addition to including participant characteristics and clinical and cognitive 
assessment results, records the presence of neuroimaging data and genetics samples for that participant (Aim 
4). This database serves to reduce recruitment and phenotyping costs for investigators, ease the burden of 
participation for families, and minimize redundant testing efforts across different research groups. De-identified 
participant information is readily available to IDDRC investigators through this centralized database. The HCP 
also provides IDDRC members access to state-of-the-art human neuroimaging resources (Aim 5) and engages 
in the development of next-generation phenotyping tools (Aim 6). Since its inauguration 5-years ago, the HCP 
has become an integral part of human IDD work at Einstein/Montefiore. For example, it is essential to 
Einstein's role in an `Autism Centers of Excellence Network' project on the genetics of autism in African 
Americans (ACE, P50, MH100027), plays a key role in a recently initiated randomized clinical trial testing 
efficacy of two behavioral interventions on ASD (R01 HD082814), and has been vital to a number of clinical- 
research partnerships (including on RETT syndrome and NPC type C disease). Over the next 5-years the HCP 
will continue to support these interwoven aims to promote the mission of the RFK IDDRC to advance 
diagnosis, prevention, and treatment of children with IDDs. In addition, it will serve the proposed IDDRC 
research project by recruiting and phenotyping 22q11.2 deletion syndrome participants (Aim 7). Through these 
aims the HCP will maintain its role as the central hub for a variety of Center investigators for whom 
comprehensive human phenotyping is key to understanding the implications of their work.

## Key facts

- **NIH application ID:** 9999356
- **Project number:** 5U54HD090260-06
- **Recipient organization:** ALBERT EINSTEIN COLLEGE OF MEDICINE
- **Principal Investigator:** SOPHIE MOLHOLM
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $200,400
- **Award type:** 5
- **Project period:** 2016-09-22 → 2021-07-22

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9999356

## Citation

> US National Institutes of Health, RePORTER application 9999356, Human Clinical Phenotyping (HCP) Core (5U54HD090260-06). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/9999356. Licensed CC0.

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