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.

Bloom Syndrome Grant Program

The Bloom Syndrome Association, in collaboration with The Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the Bloom Syndrome Grant Program. Bloom syndrome (BSyn) is an ultra-rare multi system disorder that substantially increases the risk of developing cancer at an early age. While only about ~300 cases have been reported to date, BSyn is part of a group of rare DNA damage response and repair disorders. The gene BLM, located at 15q26.1, encodes for the BLM protein, a RecQ DNA Helicase family protein. A recurrent mutation known as BLMAsh, which is common among Ashkenazi Jews, is responsible for approximately 30% of BSyn cases, while the remaining 70% of cases are caused by multiple other mutations with full or partial loss of function and a range of resulting phenotypes.

BLM pathogenic variants that cause Bloom syndrome result in DNA repair defects which in turn result in chromosome breakages and rearrangements. The abnormal DNA repair is responsible for the increased risk for cancer. Greater knowledge of its mechanisms will be not only beneficial for patients with Bloom syndrome but may also translate into clinical innovations for cancer therapy in general.

We are seeking grant applications to increase the rate of discovery of the mechanisms of BSyn and, importantly, lead to treatments and/or cures for BSyn. While the RFA is intentionally broad in scope, priority will be given to grants that cover the following areas:

1. Improve knowledge of Bloom syndrome tumor biology, including, but not limited to tumor models, tumor sequencing to determine a tumor signature for BSyn, molecular surveillance for tumors, as well as a centralized registry of validated tissue (coordination of sampling, storing and distribution of samples). One 2-year grant for up to $150,000 (total cost).

2. Literature review, critical assessment & study proposal, regarding:

     i.        The impact of sunlight and radiation in BSyn.

     ii.        Safety & efficacy of cancer treatments in BSyn including modalities, regimes and dosages.

   iii.        Utility of existing data sets as a natural history study and/or control arm for future clinical trials.

   iv.        Gene therapy for BSyn.

   v.         Why and how BSyn can be a model for cancer development in general.

   These projects will involve a critical review of currently available information and outline proposed studies that could be performed to better understand the topic(s) in question. Up to four one-year grants for up to $50,000 each (total cost).

3.  Global cancer surveillance & novel cancer research in Bloom Syndrome, including, but not limited to, establishment of BSyn tumor organoids, collection and analyses of patient-derived blood samples, microbiome studies, and hematopoietic stem cell health and dysfunction studies. One 2-year grant for up to $150,000 (total cost).

Eligibility

Non-profits. 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.

Commercial entities. We will consider applications from commercial entities if a principal investigator of appropriate experience is identified.

Intellectual property created as a result of this funding will be assigned to the home institution of the inventors who presumably would be employees of the company. We expect that grants provided to commercial entities be matched dollar for dollar. Note that the budget should cover the entire scope of work and should include the Bloom Syndrome Association award and the company’s match. We will need assurance in the grant contract that the company will diligently develop the project.

Full Applications are due Friday, November 22, 2024 by 8pm ET.

To Apply:

1. Please review the Bloom Syndrome Grant Program RFA Guidelines.

2. Download and complete the below forms:

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

Bloom Syndrome Grant Program

The Bloom Syndrome Association, in collaboration with The Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the Bloom Syndrome Grant Program. Bloom syndrome (BSyn) is an ultra-rare multi system disorder that substantially increases the risk of developing cancer at an early age. While only about ~300 cases have been reported to date, BSyn is part of a group of rare DNA damage response and repair disorders. The gene BLM, located at 15q26.1, encodes for the BLM protein, a RecQ DNA Helicase family protein. A recurrent mutation known as BLMAsh, which is common among Ashkenazi Jews, is responsible for approximately 30% of BSyn cases, while the remaining 70% of cases are caused by multiple other mutations with full or partial loss of function and a range of resulting phenotypes.

BLM pathogenic variants that cause Bloom syndrome result in DNA repair defects which in turn result in chromosome breakages and rearrangements. The abnormal DNA repair is responsible for the increased risk for cancer. Greater knowledge of its mechanisms will be not only beneficial for patients with Bloom syndrome but may also translate into clinical innovations for cancer therapy in general.

We are seeking grant applications to increase the rate of discovery of the mechanisms of BSyn and, importantly, lead to treatments and/or cures for BSyn. While the RFA is intentionally broad in scope, priority will be given to grants that cover the following areas:

1. Improve knowledge of Bloom syndrome tumor biology, including, but not limited to tumor models, tumor sequencing to determine a tumor signature for BSyn, molecular surveillance for tumors, as well as a centralized registry of validated tissue (coordination of sampling, storing and distribution of samples). One 2-year grant for up to $150,000 (total cost).

2. Literature review, critical assessment & study proposal, regarding:

     i.        The impact of sunlight and radiation in BSyn.

     ii.        Safety & efficacy of cancer treatments in BSyn including modalities, regimes and dosages.

   iii.        Utility of existing data sets as a natural history study and/or control arm for future clinical trials.

   iv.        Gene therapy for BSyn.

   v.         Why and how BSyn can be a model for cancer development in general.

   These projects will involve a critical review of currently available information and outline proposed studies that could be performed to better understand the topic(s) in question. Up to four one-year grants for up to $50,000 each (total cost).

3.  Global cancer surveillance & novel cancer research in Bloom Syndrome, including, but not limited to, establishment of BSyn tumor organoids, collection and analyses of patient-derived blood samples, microbiome studies, and hematopoietic stem cell health and dysfunction studies. One 2-year grant for up to $150,000 (total cost).

Eligibility

Non-profits. 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.

Commercial entities. We will consider applications from commercial entities if a principal investigator of appropriate experience is identified.

Intellectual property created as a result of this funding will be assigned to the home institution of the inventors who presumably would be employees of the company. We expect that grants provided to commercial entities be matched dollar for dollar. Note that the budget should cover the entire scope of work and should include the Bloom Syndrome Association award and the company’s match. We will need assurance in the grant contract that the company will diligently develop the project.

Letters of Interest (LOI) are due Friday, September 27, 2024 by 8pm ET.

To Apply:

1. Please review the Bloom Syndrome 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

Project CASK, in collaboration with the Orphan Disease Center, is seeking proposals to advance research that supports therapeutic development for CASK gene disorders.

Background

The X-linked CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK), which is primarily found in neurons and helps control the expression of other genes involved in brain development. Mutations on the CASK gene are currently associated with two disorders, microcephaly with pontine and cerebellar hypoplasia (MICPCH) and XL-ID with or without nystagmus. The spectrum of neurological phenotypes associated with CASK variants is broad and includes global developmental delays, intellectual disability, epilepsy, or other seizure disorders, hypotonia, swallowing or feeding challenges, hearing and vision issues, and other neurological symptoms.

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. Collaboration with existing CASK researchers is encouraged but not required.

Full Applications are Due Friday, April 5, 2024 by 8pm EST

To Apply:

Step 1: Please review the  RFA Guidelines.

Step 2: Download and complete the forms below:

Step 3: Complete the Application Form on Submittable

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

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

Project CASK, in collaboration with the Orphan Disease Center, is seeking proposals to advance research that supports therapeutic development for CASK gene disorders.

Background

The X-linked CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK), which is primarily found in neurons and helps control the expression of other genes involved in brain development. Mutations on the CASK gene are currently associated with two disorders, microcephaly with pontine and cerebellar hypoplasia (MICPCH) and XL-ID with or without nystagmus. The spectrum of neurological phenotypes associated with CASK variants is broad and includes global developmental delays, intellectual disability, epilepsy, or other seizure disorders, hypotonia, swallowing or feeding challenges, hearing and vision issues, and other neurological symptoms.

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. Collaboration with existing CASK researchers is encouraged but not required.

Letter of Intereset (LOI) Applications are Due Friday, February 16, 2024 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.

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.

The IQSEC2 Research and Advocacy Foundation will provide a 1-year grant, with a no cost extension of up to one year granted with approval, to support research related to IQSEC2-related disorder. The foundation will award either one grant of $60,000 or two grants for $30,000.

 Background

IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms. People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learning abilities, autistic-like behavior, characteristic hand movements, and behavioral problems. Physical features may include abnormal head shape (plagiocephaly), very small head (microcephaly), reduced muscle tone (hypotonia), and crossed eyes (strabismus). This condition is caused by mutations in the IQSEC2 gene, which is located on the X-chromosome. Depending on the severity of the gene mutation, the features can range from only intellectual disability to a syndrome that includes the other symptoms. In general, males are more affected than females. Most cases are not inherited from a parent but are caused by a new (de novo) mutation. There is no specific treatment, but early intervention and other services can support development.

The IQSEC2 Research and Advocacy Foundation, in collaboration with the Orphan Disease Center, is seeking grant applications that will address both symptoms of the disease (i.e. intractable seizures) and/or mechanistic studies that are oriented towards developing therapies addressing the underlying cause of IQSEC2 mediated intellectual disability, autism and epilepsy. The grant will exclusively be on IQSEC2 mutation mediated disease and not on other disease mutations that may have some overlap. The grant is intended to serve as a seed for additional funding from other granting agencies and part of the application will need to contain a section where the researchers discuss how they will do this.  In addition, it will be critical for the researcher to suggest how this grant will fit into the strategic goals of the IQSEC2 foundation towards reducing morbidity and developing novel treatments of IQSEC2 mediated disease. Innovative therapies are particularly welcome.

 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. Researchers with no prior experience with IQSEC2 are encouraged to apply. 

Full Applications are Due Friday, December 22, 2023 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 IQSEC2 Research and Advocacy Foundation will provide a 1-year grant, with a no cost extension of up to one year granted with approval, to support research related to IQSEC2-related disorder. The foundation will award either one grant of $60,000 or two grants for $30,000.

 Background

IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms. People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learning abilities, autistic-like behavior, characteristic hand movements, and behavioral problems. Physical features may include abnormal head shape (plagiocephaly), very small head (microcephaly), reduced muscle tone (hypotonia), and crossed eyes (strabismus). This condition is caused by mutations in the IQSEC2 gene, which is located on the X-chromosome. Depending on the severity of the gene mutation, the features can range from only intellectual disability to a syndrome that includes the other symptoms. In general, males are more affected than females. Most cases are not inherited from a parent but are caused by a new (de novo) mutation. There is no specific treatment, but early intervention and other services can support development.

The IQSEC2 Research and Advocacy Foundation, in collaboration with the Orphan Disease Center, is seeking grant applications that will address both symptoms of the disease (i.e. intractable seizures) and/or mechanistic studies that are oriented towards developing therapies addressing the underlying cause of IQSEC2 mediated intellectual disability, autism and epilepsy. The grant will exclusively be on IQSEC2 mutation mediated disease and not on other disease mutations that may have some overlap. The grant is intended to serve as a seed for additional funding from other granting agencies and part of the application will need to contain a section where the researchers discuss how they will do this.  In addition, it will be critical for the researcher to suggest how this grant will fit into the strategic goals of the IQSEC2 foundation towards reducing morbidity and developing novel treatments of IQSEC2 mediated disease. Innovative therapies are particularly welcome.

 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. Researchers with no prior experience with IQSEC2 are encouraged to apply. 

Letter of Intereset (LOI) Applications are Due Friday, November 3, 2023 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.