The ODC is offering 3 research opportunities focusing on 3 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2025 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.

The MDBR 2025 Pilot Grants are open to the international community holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation

Full Applications (by invitation only) are Due:

Monday, October 20, 2025 by 8PM EST.

To Apply:

Step 1 - Please review the 2025 MDBR Pilot Grant Program RFA Guidelines.

Step 2 - Download and complete the below forms:

Step 3 - Complete the Application Form on Submittable.

Research Areas for the 2025 MDBR Grant Program:

1. CADASIL

2. UGDH

3. ZC4H2

APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM

The 2025 APBDRF Pilot Grant Program will provide a 1-year grant to support research related to Adult Polyglucosan Body Disease. Either two grants for small, independent project(s) with one PI for up to $50,000 each or one grant for up to $100,000 (if appropriately justified) for a larger, collaborative project will be awarded.

Background

Adult Polyglucosan Body Disease (APBD) is an adult-onset, neurological form of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme (GBE1) gene. Deficiency of GBE1 results in the pathogenic accumulation of polyglucosan bodies in the nervous system.

APBD symptoms typically develop in the fourth or fifth decade of life and include bladder dysfunction, gait disturbance, sensory and motor neuropathy, weakness, and fatigue. Cognitive decline is seen in approximately half of the individuals with APBD. Progressive symptoms lead to wheelchair dependence and premature death. APBD is commonly misdiagnosed as multiple sclerosis, amyotrophic lateral sclerosis, and peripheral neuropathies. There are presently no treatments available for APBD.

The primary focus for this grant opportunity is basic science or clinical studies aimed at biomarker development (e.g., neurofilament light chain and glial fibrillary acidic protein assays) that could be used to demonstrate the effectiveness of a therapeutic for APBD. The APBD Research Foundation will also consider research proposals (or resubmission of updated/revised previously submitted proposals) that support:

• advancing the understanding of mechanisms of the disease, or

• clinical phenotyping and/or outcome measure identification that will facilitate future treatment trials, or

• development of approaches that will prevent polyglucosan body accumulation or will facilitate its removal from the central and peripheral nervous systems, or

• development of novel treatments.

Applicants are encouraged to collaborate with other scientists and clinicians and should include a statement on resource sharing in their proposal. Studies that showcase collaboration and have a strong likelihood of future follow-on funding are highly encouraged. Include a description of your research’s implications for the broader rare and neurodegenerative diseases landscape.  Applicants should use existing disease models (i.e., mouse models, cultured skin fibroblasts) and work with existing APBD repositories to bank clinical samples and/or natural history data. Please contact the APBD Research Foundation’s Research Manager, Lindsay Gill, Ph.D. (lindsay@apbdrf.org) with any questions about these resources.

Eligibility

We welcome applications from tenure-track faculty, non-tenure-track faculty and postdoctoral fellows (PhD and/or MD); applications submitted by postdoctoral fellows must include a statement of feasibility and support from their faculty mentor. This opportunity is open to investigators at established academic and research institutions worldwide. We also welcome applications from individuals in a senior position at a non-profit institution or foundation. Collaboration with existing APBD researchers is encouraged but not required.

Full Applications are due Friday, September, 26 by 8pm ET.

To Apply:

1. Please review the APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM RFA Guidelines.

2. Download and complete the below forms

   1. Full Application Template

   2. Research Budget Template

3. Complete the Application Form on Submittable.

For any scientific inquiries regarding this grant please email Debbie Requesens

For any administrative inquiries regarding this grant please email psom-odcadmin@pobox.upenn.edu

The ODC is offering 3 research opportunities focusing on 3 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2025 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.

Letter of Interest (LOI) Applications are Due Friday, September 19th, 2025 by 8pm ET

To Apply:

1. Please review the Request for Applications (RFA)

2. Complete the Application Form on Submittable.

The MDBR 2025 Pilot Grants are open to the international community holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation.

Research Areas for the 2025 MDBR Grant Program:

1. CADASIL

2. UGDH

3. ZC4H2

The Wiedemann-Steiner Syndrome

Grant Program 2025

The Wiedemann-Steiner Syndrome Foundation will provide 2-year grants to support research related to Wiedemann-Steiner Syndrome. At least 3 awards will be granted.

Background

Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder resulting from mutations in the MLL gene (also known as KMT2A) on the long arm of chromosome 11. The syndrome’s genetic underpinnings were clarified in 2012 by a group of researchers led by Dr. Wendy Jones. The gene encodes a histone methyl transferase which helps modify the expression of many other genes. The condition is autosomal dominant, and in most cases, the mutation occurred de novo. From an unpublished survey of 76 WSS families, the symptom determined to be of “Very High Impact” by most families, was disruptive behaviors. This included aggressive behaviors, impulsivity, and behaviors outside of age-appropriate societal norms and the most important therapeutic goals were to reduce these behaviors and improve cognitive functioning.

The Orphan Disease Center, in collaboration with the WSS Foundation, is seeking grant applications that aim to further progress the understanding of the disease:

• Two $90,000 grants to support the development and characterization, for the advancement toward therapeutic goal, of patient-derived cell models of WSS Syndrome (ex. iPSCs, neurons, reporter lines). These cells model will be deposited into a publicly accessible biobank.

• One $90,000 grant to support a Natural History Study. Proposals for this grant should focus on understanding the progression of the condition over time, often to support product development, especially for rare diseases. These studies are observational and aim to identify factors that influence disease development and outcomes.

Eligibility

All individuals holding a faculty-level appointment at an academic institution or a senior position at a non-profit institution or foundation are eligible to respond to this RFA.

Full Applications are due Friday, September 26, 2025 by 8pm ET.

To Apply:

1. Please review the WIEDEMANN-STEINER SYNDROME FOUNDATION 2025 GRANT PROGRAM RFA Guidelines.

2. Download and complete the below forms

   1. Full Application Template

   2. Research Budget Template

3. Complete the Application Form on Submittable.

For any scientific inquiries regarding this grant please email Debbie Requesens

For any administrative inquiries regarding this grant please email psom-odcadmin@pobox.upenn.edu

APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM

The 2025 APBDRF Pilot Grant Program will provide a 1-year grant to support research related to Adult Polyglucosan Body Disease. Either two grants for small, independent project(s) with one PI for up to $50,000 each or one grant for up to $100,000 (if appropriately justified) for a larger, collaborative project will be awarded.

Background

Adult Polyglucosan Body Disease (APBD) is an adult-onset, neurological form of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme (GBE1) gene. Deficiency of GBE1 results in the pathogenic accumulation of polyglucosan bodies in the nervous system.

APBD symptoms typically develop in the fourth or fifth decade of life and include bladder dysfunction, gait disturbance, sensory and motor neuropathy, weakness, and fatigue. Cognitive decline is seen in approximately half of the individuals with APBD. Progressive symptoms lead to wheelchair dependence and premature death. APBD is commonly misdiagnosed as multiple sclerosis, amyotrophic lateral sclerosis, and peripheral neuropathies. There are presently no treatments available for APBD.

The primary focus for this grant opportunity is basic science or clinical studies aimed at biomarker development (e.g., neurofilament light chain and glial fibrillary acidic protein assays) that could be used to demonstrate the effectiveness of a therapeutic for APBD. The APBD Research Foundation will also consider research proposals (or resubmission of updated/revised previously submitted proposals) that support:

• advancing the understanding of mechanisms of the disease, or

• clinical phenotyping and/or outcome measure identification that will facilitate future treatment trials, or

• development of approaches that will prevent polyglucosan body accumulation or will facilitate its removal from the central and peripheral nervous systems, or

• development of novel treatments.

Applicants are encouraged to collaborate with other scientists and clinicians and should include a statement on resource sharing in their proposal. Studies that showcase collaboration and have a strong likelihood of future follow-on funding are highly encouraged. Include a description of your research’s implications for the broader rare and neurodegenerative diseases landscape.  Applicants should use existing disease models (i.e., mouse models, cultured skin fibroblasts) and work with existing APBD repositories to bank clinical samples and/or natural history data. Please contact the APBD Research Foundation’s Research Manager, Lindsay Gill, Ph.D. (lindsay@apbdrf.org) with any questions about these resources.

Eligibility

We welcome applications from tenure-track faculty, non-tenure-track faculty and postdoctoral fellows (PhD and/or MD); applications submitted by postdoctoral fellows must include a statement of feasibility and support from their faculty mentor. This opportunity is open to investigators at established academic and research institutions worldwide. We also welcome applications from individuals in a senior position at a non-profit institution or foundation. Collaboration with existing APBD researchers is encouraged but not required.

Letters of Interest (LOI) are due Friday, August 22, 2025 by 8pm ET.

To Apply:

1. Please review the APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM RFA Guidelines.

2. Complete the Application Form on Submittable.

For any scientific inquiries regarding this grant please email Debbie Requesens

For any administrative inquiries regarding this grant please email psom-odcadmin@pobox.upenn.edu

The Wiedemann-Steiner Syndrome

Grant Program 2025

The Wiedemann-Steiner Syndrome Foundation will provide 2-year grants to support research related to Wiedemann-Steiner Syndrome. At least 3 awards will be granted.

Background

Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder resulting from mutations in the MLL gene (also known as KMT2A) on the long arm of chromosome 11. The syndrome’s genetic underpinnings were clarified in 2012 by a group of researchers led by Dr. Wendy Jones. The gene encodes a histone methyl transferase which helps modify the expression of many other genes. The condition is autosomal dominant, and in most cases, the mutation occurred de novo. From an unpublished survey of 76 WSS families, the symptom determined to be of “Very High Impact” by most families, was disruptive behaviors. This included aggressive behaviors, impulsivity, and behaviors outside of age-appropriate societal norms and the most important therapeutic goals were to reduce these behaviors and improve cognitive functioning.

The Orphan Disease Center, in collaboration with the WSS Foundation, is seeking grant applications that aim to further progress the understanding of the disease:

• Two $90,000 grants to support the development and characterization, for the advancement toward therapeutic goal, of patient-derived cell models of WSS Syndrome (ex. iPSCs, neurons, reporter lines). These cells model will be deposited into a publicly accessible biobank.

• One $90,000 grant to support a Natural History Study. Proposals for this grant should focus on understanding the progression of the condition over time, often to support product development, especially for rare diseases. These studies are observational and aim to identify factors that influence disease development and outcomes.

Eligibility

All individuals holding a faculty-level appointment at an academic institution or a senior position at a non-profit institution or foundation are eligible to respond to this RFA.

Letters of Interest (LOI) are due Friday, August 8, 2025 by 8pm ET.

To Apply:

1. Please review the WIEDEMANN-STEINER SYNDROME FOUNDATION 2025 GRANT PROGRAM RFA Guidelines.

2. Complete the Application Form on Submittable.

For any scientific inquiries regarding this grant please email Debbie Requesens

For any administrative inquiries regarding this grant please email psom-odcadmin@pobox.upenn.edu

JACK BEAR FOUNDATION 2025 GRANT PROGRAM

The Jack Bear Foundation, in collaboration with the Orphan Disease Center, will provide a 1-year grant to support several critical components of basic, clinical and translational research on disorders associated with genetic mutations in the RUBCN gene with a particular emphasis on the topics outlined below:

Scientific Topics

• Basic understanding of canonical and noncanonical functions of SCAR-15 disease associated with the RUBCN gene

• Identification of biomarkers for RUBCN gene/SCAR-15 disease using patient samples

• Development and characterization of patient-derived cell models of SCAR-15 disease (ex. iPSCs, neurons, reporter lines)

• Development and phenotypic characterization of animal models with the RUBCN gene/SCAR-15 disease

• Development of a standardized evaluation criteria for clinical projects allowing uniformity of patients as well as the severity and progression of the disease.

• Support small animal studies or assays that investigate drug repurposing strategies.

Please take special consideration to describe the proposed work and its potential impact on SCAR-15 disease in a language appropriate for non-scientific audiences.

Duration and Budget

• Expected duration is 12 months

• Up to 2 awards of up to $50,000 per grant / At least 1 award of up to $100,000

• Renewals could be considered at the end of the 1 year grant period

• IDCs of up to 10% should be included in the total award amount

Background

Spinocerebellar Ataxia Recessive Type 15 (SCAR-15) is a rare degenerative genetic disorder impacting the cerebellum, which is characterized by early-onset progressive loss of coordination of hands, gait, speech, eye movement, dysarthria, and developmental delay. Epilepsy and abnormal reflexes exist in a subset of affected individuals. SCAR-15 is inherited in an autosomal recessive manner and can be caused by homozygous or compound heterozygous mutations in the KIAA0226 (or RUBCN gene). Today there are only a handful cases of SCAR-15 reported in literature, and around a dozen cases in the world are known to the Foundation. However, given that the RUBCN gene was only recently upgraded to a causative disease gene in 2021, it is likely that this condition is underdiagnosed in the general population.

The Orphan Disease Center, in collaboration with the Jack Bear Foundation, is seeking grant applications for multidisciplinary teams of scientists that aim to further progress our understanding of the disease, the available therapeutic options, and investigating strategies to establish outcome measurements. The RFA could focus on one, or several, of the scientific topics above to further advance SCAR-15 research and therapeutic approaches.

Requirements and Eligibility

Data generated as a result of Jack Bear Foundation seed funding must be made accessible to the Foundation. Data can be embargoed for a period of time to be defined in a Data Use Agreement and/or Material Transfer Agreement to provide time to publish, protect intellectual property, etc. Resources generated as a result of Jack Bear Foundation funding (development of cell or animal models) must be made available to other interested researchers and the Jack Bear Foundation Biorepository.

We welcome applications from tenure-track faculty, non-tenure-track faculty and postdoctoral (PhD or MD) fellows; applications submitted by postdoctoral fellows must include a statement of feasibility and support from their faculty mentor. This opportunity is open to investigators at established academic and research institutions worldwide. We also welcome applications from individuals in a senior position at a non-profit institution or foundation. Collaboration with existing SCAR-15 researchers is encouraged but not required.

Full Applications are due Friday, June 6th, 2025 by 8pm ET.

To Apply:

1. Please review the JACK BEAR FOUNDATION 2025 GRANT PROGRAM RFA Guidelines.

2. Download and complete the below forms

   1. Full Application Template

   2. Research Budget Template

3. Complete the Application Form on Submittable.

For any scientific inquiries regarding this grant please email Debbie Requesens

For any administrative inquiries regarding this grant please email psom-odcadmin@pobox.upenn.edu

JACK BEAR FOUNDATION 2025 GRANT PROGRAM

The Jack Bear Foundation, in collaboration with the Orphan Disease Center, will provide a 1-year grant to support several critical components of basic, clinical and translational research on disorders associated with genetic mutations in the RUBCN gene with a particular emphasis on the topics outlined below:

Scientific Topics

• Basic understanding of canonical and noncanonical functions of SCAR-15 disease associated with the RUBCN gene

• Identification of biomarkers for RUBCN gene/SCAR-15 disease using patient samples

• Development and characterization of patient-derived cell models of SCAR-15 disease (ex. iPSCs, neurons, reporter lines)

• Development and phenotypic characterization of animal models with the RUBCN gene/SCAR-15 disease

• Development of a standardized evaluation criteria for clinical projects allowing uniformity of patients as well as the severity and progression of the disease.

• Support small animal studies or assays that investigate drug repurposing strategies.

Please take special consideration to describe the proposed work and its potential impact on SCAR-15 disease in a language appropriate for non-scientific audiences.

Duration and Budget

• Expected duration is 12 months

• Up to 2 awards of up to $50,000 per grant / At least 1 award of up to $100,000

• Renewals could be considered at the end of the 1 year grant period

• IDCs of up to 10% should be included in the total award amount

Background

Spinocerebellar Ataxia Recessive Type 15 (SCAR-15) is a rare degenerative genetic disorder impacting the cerebellum, which is characterized by early-onset progressive loss of coordination of hands, gait, speech, eye movement, dysarthria, and developmental delay. Epilepsy and abnormal reflexes exist in a subset of affected individuals. SCAR-15 is inherited in an autosomal recessive manner and can be caused by homozygous or compound heterozygous mutations in the KIAA0226 (or RUBCN gene). Today there are only a handful cases of SCAR-15 reported in literature, and around a dozen cases in the world are known to the Foundation. However, given that the RUBCN gene was only recently upgraded to a causative disease gene in 2021, it is likely that this condition is underdiagnosed in the general population.

The Orphan Disease Center, in collaboration with the Jack Bear Foundation, is seeking grant applications for multidisciplinary teams of scientists that aim to further progress our understanding of the disease, the available therapeutic options, and investigating strategies to establish outcome measurements. The RFA could focus on one, or several, of the scientific topics above to further advance SCAR-15 research and therapeutic approaches.

Requirements and Eligibility

Data generated as a result of Jack Bear Foundation seed funding must be made accessible to the Foundation. Data can be embargoed for a period of time to be defined in a Data Use Agreement and/or Material Transfer Agreement to provide time to publish, protect intellectual property, etc. Resources generated as a result of Jack Bear Foundation funding (development of cell or animal models) must be made available to other interested researchers and the Jack Bear Foundation Biorepository.

We welcome applications from tenure-track faculty, non-tenure-track faculty and postdoctoral (PhD or MD) fellows; applications submitted by postdoctoral fellows must include a statement of feasibility and support from their faculty mentor. This opportunity is open to investigators at established academic and research institutions worldwide. We also welcome applications from individuals in a senior position at a non-profit institution or foundation. Collaboration with existing SCAR-15 researchers is encouraged but not required.

Letters of Interest (LOI) are due Friday, April 18, 2025 by 8pm ET.

To Apply:

1. Please review the JACK BEAR FOUNDATION 2025 GRANT PROGRAM RFA Guidelines.

2. Complete the Application Form on Submittable.

For any scientific inquiries regarding this grant please email Debbie Requesens

For any administrative inquiries regarding this grant please email psom-odcadmin@pobox.upenn.edu

The Bow Foundation will provide one-year grants to support research related to GNAO1 Neurodevelopmental Disorder. At least 2 awards will be granted at $100,000 each.

 Background

The Bow Foundation, in collaboration with the Orphan Disease Center, is seeking proposals to advance research related to GNAO1 Neurodevelopmental Disorder. We are looking for applications that aim to further progress our understanding of the disease, the available therapeutic options, and investigating strategies to establish outcome measurements. The RFA could focus on one, or several, of the following aims, to further advance GNAO1 research and therapeutic approaches:

• Novel therapeutic approaches, including, but not limited to, techniques in genome editing, RNA-based mechanisms, biologics, novel cell-based therapeutics, and development of novel therapeutic compounds, including through small molecule repurposing or screening against validated phenotypes in human cellular systems.

• Proposals that include collaboration across organizations or other rare diseases.

• Establishment of outcome measures for future clinical trials.

• Supporting pilot clinical trials, preclinical trials, or animal model trials that promote drug repurposing strategies.

• Other aims are welcome and will be considered.

At least 2 one-year grants for up to $100,000 each (total cost) will be awarded.

Eligibility

All individuals holding a faculty-level appointment at an academic institution or a senior position

at a non-profit institution or foundation are eligible to respond to this RFA.

Full Applications are Due Friday, March 28, 2025 by 8pm EST

To Apply:

Step 1: Please review the  RFA Guidelines.

Step 2: Download and complete the below forms

Step 3: Apply through Submittable

For any scientific inquiries regarding this grant please email Deborah Requesens.

For any administrative inquiries regarding this grant please email Leslie Silverman.

The Bow Foundation will provide one-year grants to support research related to GNAO1 Neurodevelopmental Disorder. At least 2 awards will be granted at $100,000 each.

 Background

The Bow Foundation, in collaboration with the Orphan Disease Center, is seeking proposals to advance research related to GNAO1 Neurodevelopmental Disorder. We are looking for applications that aim to further progress our understanding of the disease, the available therapeutic options, and investigating strategies to establish outcome measurements. The RFA could focus on one, or several, of the following aims, to further advance GNAO1 research and therapeutic approaches:

• Novel therapeutic approaches, including, but not limited to, techniques in genome editing, RNA-based mechanisms, biologics, novel cell-based therapeutics, and development of novel therapeutic compounds, including through small molecule repurposing or screening against validated phenotypes in human cellular systems.

• Proposals that include collaboration across organizations or other rare diseases.

• Establishment of outcome measures for future clinical trials.

• Supporting pilot clinical trials, preclinical trials, or animal model trials that promote drug repurposing strategies.

• Other aims are welcome and will be considered.

At least 2 one-year grants for up to $100,000 each (total cost) will be awarded.

Eligibility

All individuals holding a faculty-level appointment at an academic institution or a senior position

at a non-profit institution or foundation are eligible to respond to this RFA.

LOIs are Due Friday, February 14, 2025 by 8pm EST

Full Applications are Due Friday, March 28, 2025 by 8pm EST

To Apply:

Step 1: Please review the  RFA Guidelines.

Step 2: Apply through Submittable

For any scientific inquiries regarding this grant please email Deborah Requesens.

For any administrative inquiries regarding this grant please email Leslie Silverman.