Official websites use .gov

A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS

A lock ( 🔒 ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

Need Help

Lipid dysregulation as a mediator of Rett syndrome disease progression

Award Number: F32HD105325
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS
PERIOD OF PERFORMANCE START DATE: 04/24/2021
PERIOD OF PERFORMANCE END DATE: 04/23/2022

Group Awards By:

View Award Description

Lipid dysregulation as a mediator of Rett syndrome disease progression - PROJECT SUMMARY Lipid dysregulation is emerging as a critical component of neurodevelopmental disorders, such as Rett syndrome (RTT). RTT is an X-linked dominant disorder caused primarily by mutations in the methyl-CpG binding protein 2 (MECP2) gene, and predominantly affects females who are mosaic for MECP2 expression due to X-inactivation. RTT is characterized by apparently normal development in infancy, followed by rapid decline of motor and speech functions at 6-18 months of age. In addition to neurological effects, RTT is increasingly recognized as a multi-system disorder, affecting the lungs, intestinal tract, immune system, and lipid metabolism. Recent human and animal studies have strongly indicated a significant role for lipid metabolism in RTT pathology and disease progression. Exciting new preliminary data from a mouse model of RTT suggests a new role for lipids: lipid malabsorption in the intestinal tract. Lipids are crucial for the developing brain. Thus, lipid malabsorption could have detrimental effects on neurodevelopment. Lipid malabsorption can be corrected using nutritional therapies, presenting a potential opportunity for RTT treatment. Furthermore, our preliminary data point to lipid malabsorption as a female-specific effect. Mosaic females are the relevant clinical model, but previous studies in mice have largely focused on males completely deficient in Mecp2. The research outlined in this fellowship proposal will therefore use an established mouse model of RTT disease progression to evaluate whether lipid dysregulation mediates RTT disease progression in female mosaic mice using two specific aims: 1) evaluate the contribution of lipid malabsorption to RTT symptom progression and 2) examine the intersection of lipid and gene expression dysregulation in the brain of RTT female mice. The findings from this research will refine the role of lipid dysregulation in RTT disease progression and provide new avenues of treatment. The PI will train at a world-renowned research university under Sponsor Dr. Janine LaSalle and Co-Sponsor Dr. Ameer Taha to learn new skills and techniques to carry out this proposed research, including genetic mouse models of neurodevelopmental disorders, single-cell transcriptomics, targeted lipidomics, and bioinformatic data analysis and integration. These research skills will allow the PI to build on her background in studying the developmental origins of metabolic disease towards future independent research at the intersection of neurodevelopment and lipid metabolism. In addition to new research skills, the PI’s Sponsor will mentor her in obtaining professional development goals that will be instrumental in the PI’s trajectory towards a career as an independent researcher: 1) maximize leadership and management experience, hone skills at building an inclusive and diverse research environment, 3) improve scientific communication skills, and 4) build a network of future collaborators. Together, the research and training plan in this proposal will prepare the PI for a successful career as an independent researcher.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2023 ( Subtotal = -$2,432 )
2023	2021	UNIVERSITY OF CALIFORNIA, DAVIS	1850 RESEARCH PARK DR, STE 300	DAVIS	CA	95618	YOLO	USA	Child Health and Human Development Extramural Research	000	1	5/15/2023	NEW	-$2,432
														Subtotal = -$2,432

Issue Date FY: 2022 ( Subtotal = $0 )
2022	2021	UNIVERSITY OF CALIFORNIA, DAVIS	1850 RESEARCH PARK DR, STE 300	DAVIS	CA	95618	YOLO	USA	Child Health and Human Development Extramural Research	000	1	5/13/2022	NEW	$0
														Subtotal = $0

Issue Date FY: 2021 ( Subtotal = $65,994 )
2021	2021	UNIVERSITY OF CALIFORNIA, DAVIS	1850 RESEARCH PARK DR, STE 300	DAVIS	CA	95618	YOLO	USA	Child Health and Human Development Extramural Research	000	1	4/5/2021	NEW	$65,994
2021	2021	UNIVERSITY OF CALIFORNIA, DAVIS	1850 RESEARCH PARK DR, STE 300	DAVIS	CA	95618	YOLO	USA	Child Health and Human Development Extramural Research	001	1	4/5/2021	NEW	$0
														Subtotal = $65,994

Grand Total All Awards = $63,562

Top

All Categories

About

Search

Reports

Data Submission

Award Information

Lipid dysregulation as a mediator of Rett syndrome disease progression

Award Number: F32HD105325

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS

PERIOD OF PERFORMANCE START DATE: 04/24/2021

PERIOD OF PERFORMANCE END DATE: 04/23/2022

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer