Advancing Research into the Cause and Treatment of Rare Skin Diseases (NIH Highlighted Topic)

Advancing Research into the Cause and Treatment of Rare Skin Diseases (NIH Highlighted Topic) is sponsored by National Institutes of Health (NIH) (multiple institutes participating, including NIAMS, NCATS, NIEHS, ORWH). This NIH highlighted topic aims to facilitate research on rare skin diseases, many of which present in childhood and have limited or no FDA-approved treatment options.

Advancing Research into the Cause and Treatment of Rare Skin Diseases | Grants & Funding U.S. Department of Health and Human Services National Institutes of Health Advancing Research into the Cause and Treatment of Rare Skin Diseases When beginning your next investigator-initiated application, consider the following NIH highlighted topic.

The area of science described below is of interest to the listed NIH Institutes, Centers, and Offices (ICOs). This is not a notice of funding opportunity (NOFO). Apply through an appropriate NIH Parent Funding Announcement or another broad NIH opportunity available on Grants.

gov . Learn how to interpret and use Highlighted Topics . Expiration Date: April 2, 2028 It is estimated that 1 in 10 US residents suffer from a rare disease, most of which present in childhood.

For many of these diseases, the underlying causes are either unknown or incompletely understood. Further, most of these diseases (approximately 95%) lack FDA-approved treatment, leading to significant childhood morbidity and mortality. This topic aims to facilitate research on rare skin diseases.

Projects including multidisciplinary teams of basic, translational, and clinical scientists are of particular interest. Topics of interest include, but are not limited to: Environmental triggers (pollutants, UV exposure, allergens) of disease development. Diagnostic markers and biomarkers (e.g., disease progression and treatment response).

In vivo and in vitro disease models for mechanistic studies and drug screening, including those proposed in the New Approach Methodologies (NAM) NIH initiative (e.g., human cell-based organoids, 3D culture systems, tissue or organ on-a-chip) (NIH Standardized Organoid Modeling (SOM) Center | National Institutes of Health (NIH)) Genetic studies identifying the causes of rare skin diseases.

Identification of molecular and cellular disease pathways and potential therapeutic targets. Commonalities across diseases for developing new therapies that can target multiple disorders.

FDA-approved drugs repurposed to treat rare diseases Cell and gene therapy approaches Revertant mosaicism as a window into treatment strategies and disease reversal mechanisms Examples of diseases of interest include (but are not limited to): Erythropoietic Protoporphyria Recessive Dystrophic Epidermolysis Bullosa Central Scientific Contact: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) NIAMS encourages research into rare skin diseases, including genetic causes and disease mechanisms.

The goal is to develop new therapies. Multidisciplinary and team science approaches are of particular interest. National Center for Advancing Translational Sciences (NCATS) NCATS develops s olutions t hat a id m any t ranslational r esearch e fforts (STAMTRE).

Specifically, we are interested in supporting research focused on STAMTRE that are applicable to multiple rare skin diseases, including but not limited to: Gene therapy/gene editing Basket trial protocols, or Therapeutics targeting s h a red m olecular e tiologies (SaME therapeutics). In contrast, applications focused on individual rare skin diseases would not be of interest for NCATS funding.

IC may give special consideration to support meritorious applications in this topic area. National Institute of Environmental Health Sciences (NIEHS) NIEHS is interested in epidemiology, mechanistic (including toxicology, gene-environment interactions), and appropriate in vitro, in vivo, and computational studies that examine the role of the exposome/environmental exposures in the development and/or progression of rare skin diseases.

Examples of environmentally relevant exposures include industrial chemicals or manufacturing byproducts, metals, pesticides, ambient heat, and air pollutants and other inhaled toxicants.

Office of Research on Women's Health (ORWH) The Office of Autoimmune Disease Research in the Office of Research on Women’s Health (OADR-ORWH) is interested in supporting autoimmune disease-associated rare skin conditions with a focus on addressing current gaps in the autoimmune disease research portfolio.

Topics of interest include: As well as skin conditions associated with systemic autoimmune diseases, including scleroderma, dermatomyositis, celiac disease, inflammatory bowel disease, and systemic lupus erythematosus The engagement of people living with and at risk of autoimmunity, family members, clinicians, and allied health professionals is strongly encouraged to ensure research has direct relevance to human health.

This office does not award grants. Applications must be relevant to the objectives of at least one of the participating Institutes or Centers listed in this topic. Victoria Shanmugam, MBBS, FRCP, FACR, CCD For technical issues E-mail OER Webmaster