Grants
Bow Foundation 2025 Grant LOI Application
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, February 14, 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.
Bloom Syndrome Grant Program - Full Application (by invitation only)
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:
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).
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).
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:
Please review the Bloom Syndrome Grant Program RFA Guidelines.
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
Million Dollar Bike Ride 2024 Pilot Grant Program - Full Application (by invitation only)
The ODC is offering 42 research opportunities focusing on 34 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2024 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.
The MDBR 2024 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 21, 2024 by 8PM EST.
To Apply:
Step 1 - Please review the 2024 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 2024 MDBR Grant Program:
Bloom Syndrome Grant Program
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:
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).
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).
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:
Please review the Bloom Syndrome Grant Program RFA Guidelines.
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
Million Dollar Bike Ride 2024 Pilot Grant Program - LOI
Submittable is up and running. Due to the unforeseen technical difficulties we are extending the deadline until Sunday, Sept 22nd at 8pm.
The ODC is offering 42 research opportunities focusing on 34 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2024 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 Sunday, September 22nd, 2024 by 8pm ET
To Apply:
Please review the Request for Applications (RFA)
Complete the Application Form on Submittable.
The MDBR 2024 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.
Prior MDBR award recipients must have current and updated project reporting to be eligible for selection.
Research Areas for the 2024 MDBR Grant Program:
Project CASK Grant Program 2024 Full Application (by invitation only)
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.
2024 CDKL5 Pilot Grant Program Full Application (by invitation only)
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards is not fixed, and may vary.
Full Applications (by invitation only) are Due Friday, March 22nd, 2024 by 5 PM EST.
To Apply:
Step 1 - Please review the "Full Application Instructions and Review Procedure" section of the 2024 CDKL5 Program of Excellence Pilot Grant Program RFA Guidelines.
Step 2 - Download and complete the forms below:
Step 3 - Complete the Application Form on Submittable.
To review the Loulou Foundation's patent policy please click here
For any scientific inquiries regarding this grant please email Dan Lavery.
For any administrative inquiries regarding this grant please email Samantha Charleston.
Project CASK Grant Program 2024
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.
2024 CDKL5 Pilot Grant Program LOI
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards is not fixed, and may vary.
Letter of Intent (LOI) are Due Friday, February 16, 2024 by 5pm EST
To Apply:
Please review the "LOI Instructions and Review Procedure" section of the 2024 CDKL5 Program of Excellence Pilot Grant Program RFA Guidelines.
2. Complete the Letter of Intent (LOI) Application Form on Submittable.
IQSEC2 Research and Advocacy Foundation Research Grant Program 2023 full application (by invitation only)
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.
IQSEC2 Research and Advocacy Foundation Research Grant Program 2023
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.
Million Dollar Bike Ride 2023 Pilot Grant Program - Full Application (by invitation only)
The ODC is offering 39 research opportunities focusing on 31 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2023 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.
The MDBR 2023 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 16, 2023 by 8PM EST.
To Apply:
Step 1 - Please review the 2023 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 2023 MDBR Grant Program:
Million Dollar Bike Ride 2023 Pilot Grant Program - LOI (Copy)
The ODC is offering 39 research opportunities focusing on 31 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2023 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 15th, 2023 by 8pm ET
To Apply:
Please review the Request for Applications (RFA)
Complete the Application Form on Submittable.
The MDBR 2023 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.
Prior MDBR award recipients must have current and updated project reporting to be eligible for selection.
Research Areas for the 2023 MDBR Grant Program:
Million Dollar Bike Ride 2023 Pilot Grant Program - LOI
The ODC is offering 39 research opportunities focusing on 31 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2023 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.
LOI Extension for select disease (see below for list of diseases)
Letter of Interest (LOI) Applications are extended for select disease & Due Friday, October 6th, 2023 by 8pm ET
To Apply:
Please review the Request for Applications (RFA)
Complete the Application Form on Submittable.
The MDBR 2023 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.
Prior MDBR award recipients must have current and updated project reporting to be eligible for selection.
EXTENDED LOI DUE DATE IS FOR THE BELOW DISEASE TEAMS
Research Areas for the 2023 MDBR Grant Program:
Bow Foundation 2023 Grant Program Full Application (by invitation only)
The Bow Foundation, will provide a 1-year grant to support research related to GNAO1 Neurodevelopmental Disorder. Up to 2 awards will be granted at $100,000 each.
Background
GNAO1 (G Protein Subunit Alpha O1) is a protein coding gene. Most patients with a GNAO1 neurodevelopmental disorder are diagnosed as infants or young children. Many of the patients begin experiencing seizures, abnormal movements and developmental delays in their infancy. The seizures are often refractory, and the patients seem to cycle through numerous medications as they try to find relief. The abnormal movements seem to worsen as the patients age. Several patients have benefited from deep brain stimulation surgery, including the youngest patient in the world to receive the procedure (a 2-year-old in the UK).
The Orphan Disease Center, in collaboration with the Bow Foundation, is seeking grant 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.
Identification of short-term biomarkers that can monitor disease activity and treatment response.
Establishment of outcome measures for future clinical trials.
Development of therapeutic approaches in early symptomatic patients.
Supporting pilot clinical trials, preclinical trials, or animal model trials that promote drug repurposing strategies.
Development of a standardized evaluation criteria for clinical projects allowing uniformity of patients as well as the severity and progression of the disease.
Development of cellular models (i.e. oligodendrocytes) for evaluation of therapeutic options to translate for clinical use.
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, April 14, 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.
2023 CDKL5 Pilot Grant Program Full Application (by invitation only)
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards is not fixed, and may vary.
Full Applications (by invitation only) are Due Friday, March 24th, 2023 by 8 PM EST.
To Apply:
Step 1 - Please review the "Full Application Instructions and Review Procedure" section of the 2023 CDKL5 Program of Excellence Pilot Grant Program RFA Guidelines.
Step 2 - Download and complete the forms below:
Step 3 - Complete the Application Form on Submittable.
To review the Loulou Foundation's patent policy please click here
For any scientific inquiries regarding this grant please email Dan Lavery.
For any administrative inquiries regarding this grant please email Samantha Charleston.
ADLD Center Grant Program Full Application (by invitation only)
ADLD Center Grant Program
The ADLD Center, in collaboration with the Orphan Disease Center, will provide a 1-year grant to support research related to Autosomal Dominant Leukodystrophy (ADLD). Up to 2 awards will be granted at $50,000 each.
Background
Adult-onset Autosomal Dominant Leukodystrophy (ADLD) is a rare genetic disorder that develops symptoms in the fourth or fifth decade due to nerve damage that slowly progresses. The onset often includes autonomic conditions such as bowel or bladder dysfunction, male impotence, loss of fine motor skills, and orthostatic hypotension. Later symptoms include difficulties using and controlling legs and arms, ultimately leading to paralysis and problems swallowing, and eventually developing into intellectual impairment. ADLD is a fatal disorder, but it is slowly progressive; patients often survive for several decades.
ADLD can be caused by one of two genetic defects - either a duplication of the gene LMNB1 that encodes for the protein Lamin B1, or an upstream deletion. Lamin B1 is a protein that is present in every cell in the body and plays an essential role in cell structure. Either of the two aforementioned genetic changes results in toxic overexpression of Lamin B1. Although Lamin B1 is present in all cells in the body, overexpression of Lamin B1 mainly causes problems in the central nervous system where it causes demyelination.
The Orphan Disease Center, in collaboration with the ADLD Center, 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 following aims to further advance ADLD research and therapeutic approaches:
Identification of short-term biomarkers that can monitor disease activity and treatment response.
Establishment of outcome measures for future clinical trials.
Development of therapeutic approaches in early symptomatic patients.
Supporting pilot clinical trials, preclinical trials, or animal model trials that promote drug repurposing strategies.
Development of a standardized evaluation criteria for clinical projects allowing uniformity of patients as well as the severity and progression of the disease.
Development of cellular models (i.e. oligodendrocytes) for evaluation of therapeutic options to translate for clinical use.
Evaluate pre-clinical patients (MRIs, genetic testing).
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 Proposal by invitation only
Please submit your full application documents by February 24, 2023.
To Apply:
Step 1 - Review RFA
Step 2 - Download and complete the below forms:
Step 3 - Apply through submittable
For any scientific inquiries regarding this grant please email Debbie Requesens
For any administrative inquiries regarding this grant please email Samantha Charleston.
2023 CDKL5 Pilot Grant Program LOI
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards is not fixed, and may vary.
Letter of Intent (LOI) are Due Friday, February 24, 2023 by 5pm EST
To Apply:
Please review the "LOI Instructions and Review Procedure" section of the 2023 CDKL5 Program of Excellence Pilot Grant Program RFA Guidelines.
2. Complete the Letter of Intent (LOI) Application Form on Submittable.
Million Dollar Bike Ride 2022 Pilot Grant Program - LOI
The ODC is offering 41 research opportunities focusing on 30 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2022 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.
Extended deadline for specific diseases: Letter of Interest (LOI) Applications are Due Friday, October 7th, 2022 by 8pm EST
To Apply:
Please review the Request for Applications (RFA)
Complete the Application Form on Submittable.
The MDBR 2022 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 2022 MDBR Grant Program:
Million Dollar Bike Ride 2022 Pilot Grant Program - Full Application
The ODC is offering 41 research opportunities focusing on 30 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2022 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.
The MDBR 2022 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 Application (by invitation only) are Due Monday, October 17, 2022 by 8 PM EST.
To Apply:
Step 1 - Please review the 2022 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 2022 MDBR Grant Program:
2022 MPS I PILOT GRANT PROGRAM
2022 MPS I PILOT GRANT PROGRAM
Overview
One-year grants up to $150,000 (direct costs) will be available to develop novel treatments for MPS I. The proposed therapeutic strategies should address the unmet needs of CNS manifestations of MPS I in patients with the severe and attenuated forms of the disease. Approaches that also address the somatic manifestations of the disease including the eye, bone, connective-tissue, and heart, which not effectively treated with enzyme replacement therapy or bone marrow transplantation are welcome.
The applicant must have a proven track record in the development of novel therapeutics that progress toward clinical applications. The applicant must demonstrate utility of the proposed therapeutic platform in MPS I animal models during the course of the grant. A second year of funding is possible but should not be incorporated into the initial application.
Eligibility
All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA.
Full Application (by invitation only) are Due Monday, October 17, 2022 by 8 PM EST.
To Apply:
Step 1 - Please review the "Full Application Instructions and Review Procedure" section of the 2022 MPS I Pilot Grant Program RFA Guidelines.
Step 2 - Download and complete the below forms:
Step 3 - Complete the Application Form on Submittable.
For any scientific inquiries regarding this grant please email Cara M. Weismann PhD.
For any administrative inquiries regarding this grant please email Samantha Charleston.
CLA Young Investigator Award
Complex Lymphatic Anomalies
Young Investigator Pilot Grant Opportunity
The Orphan Disease Center CLA Young Investigator award is a one-year grant designed to support early career researchers, such as postdoctoral and clinical fellows or instructors, pursuing promising research ideas related to lymphatic anomalies including Gorham Stout Disease (GSD), Generalized Lymphatic Anomaly (GLA), Kaposiform Lymphangiomatosis (KLA) and Central Conducting Lymphatic Anomaly (CCLA). These grants aim to cultivate the best and brightest researchers of the future who demonstrate a commitment to a career in lymphatic research. This is a mentored award, and the proposed research project will be conducted by the awardee under the guidance of a scientific mentor. Proposals in all areas of lymphatic research are welcome from U.S. and international applicants.
The YIA is a one-year award totaling $25,000 that supports personnel and/or direct research expenses. Up to two awards are available. These awards are made possible by the Lymphangiomatosis & Gorham’s Disease Alliance (LGDA and LGDA Europe) and the Lymphatic Malformation Institute (LMI).
Eligibility Criteria
This RFA is open globally. International applicants are invited to apply. Applicants must have a PhD, MD, or MD/PhD or equivalent and must not have achieved an appointment higher than Instructor.
Full Application is by invitation only and is due on Friday, July 22nd by 8pm EST.
Bloom Syndrome Grant Program
Bloom Syndrome Grant Program
The Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the Bloom Syndrome Grant Program. Bloom syndrome 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, Bloom syndrome is part of a group of rare DNA damage response and repair disorders. BLM pathogenic variants that cause Bloom syndrome results in DNA repair defects which results in a chromosome breaks and rearrangements. The abnormal DNA repair is responsible for the increased risk for cancer. Greater knowledge of its mechanisms will be beneficial not only for patients of Bloom syndrome but also could be translated to the clinic for cancer therapy.
We are seeking grant applications that progress the discovery or development of treatments and/or cures for Bloom Syndrome. While the RFA is broad in scope, priority will be given to grants that cover the following areas:
1) Two-year grant for $150,000 (total cost): Improve knowledge of tumor biology, including, but not limited to tumor models, tumor sequencing and tumor signature for Bloom Syndrome, molecular surveillance for tumors, as well as a centralized registry of validated tissue (coordination of sampling, storing and distribution of samples).
2) Two-year grant for $100,000 (total cost): Novel therapeutic approaches for Bloom Syndrome, 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.
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. Intellectual property created as a result of this funding will be assigned to the home institution of inventors according to standard institutional technology transfer policies. It is expected that these institutions will aggressively license these inventions to appropriate commercial entities with diligence provisions incorporated into these contracts.
Commercial entities. We will accept applications from commercial entities as long as 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 inventors which presumably would be employees of the company. We expect 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 ODC award and the company’s match. We will need assurance in the grant contract that the company will diligently complete the project.
This Request for Applications (RFA) is open to all academic scientists and commercial entities in the international research community
Full applications are due Friday, May 27, 2022 by invitation only.
To Apply:
Please review the Bloom Syndrome Grant Program RFA Guidelines.
Complete the Cover Page to be uploaded with full application.
Complete the Budget Form to be uploaded with fill application.
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 Samantha Charleston.
2022 CDKL5 Pilot Grant Program Full Application (by invitation only)
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards is not fixed, and may vary.
Full Application (by invitation only) are Due Friday, March 25th, 2022 by 8 PM EST.
To Apply:
Step 1 - Please review the "Full Application Instructions and Review Procedure" section of the 2022 CDKL5 Program of Excellence Pilot Grant Program RFA Guidelines.
Step 2 - Download and complete the below forms:
Step 3 - Complete the Application Form on Submittable.
To review the Loulou Foundation's patent policy please click here
For any scientific inquiries regarding this grant please email Alexis Zavez.
For any administrative inquiries regarding this grant please email Samantha Charleston.
2022 CDKL5 Pilot Grant Program
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards is not fixed, and may vary.
Letter of Intent (LOI) are Due Friday, February 25, 2022 by 5pm EST
To Apply:
Please review the "LOI Instructions and Review Procedure" section of the 2022 CDKL5 Program of Excellence Pilot Grant Program RFA Guidelines.
Complete the Application Form on Submittable.
To review the Loulou Foundation's patent policy please click here
For any scientific inquiries regarding this grant please email Alexis Zavez.
For any administrative inquiries regarding this grant please email Samantha Charleston.
2022 CDKL5 Pilot Grant Program (Copy)
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards is not fixed, and may vary.
Full Application (by invitation only) are Due Friday, March 25th, 2022 by 8 PM EST.
To Apply:
Please review the "Full Application Instructions and Review Procedure" section of the 2022 CDKL5 Program of Excellence Pilot Grant Program RFA Guidelines.
Download and complete the below forms:
Complete the Application Form on Submittable.
To review the Loulou Foundation's patent policy please click here
For any scientific inquiries regarding this grant please email Alexis Zavez.
For any administrative inquiries regarding this grant please email Samantha Charleston.
JUMPSTART RESEARCH TOOLS MATCHING GRANT PROGRAM
JUMPSTART RESEARCH TOOLS MATCHING GRANT PROGRAM
The Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the JumpStart Research Tools Matching Grant Program. This opportunity will provide a one-time matching grant to support the creation of induced pluripotent stem cells (iPSCs) and/or mouse models to advance research on rare disorders.
This Research Tool grant program will partner with Jackson Laboratory Rare and Orphan Disease Center to offer the opportunity to develop mouse models for rare diseases, and with the Stem Cell Laboratory at the Coriell Institute, to develop high-quality, patient-derived iPSCs.
This Request for Applications (RFA) is open to all foundation representatives, patients/caregivers, and academic scientists in the international research community.
Full Applications are Due Sunday, December 19th, 2021 by 6pm ET.
JumpStart Research Tools Matching Grant Program: Induced Pluripotent Stem cells (iPSCs)
Induced pluripotent stem cells (iPSCs) have become an important tool for modelling and investigating human disease, screening drugs, and providing unlimited supply of human tissue for research.
This Research Tool grant program will partner with the Stem Cell Laboratory at the Coriell Institute to offer the opportunity for families or patient organizations to develop three high-quality, patient-derived iPSCs, as well as the opportunity to bank and broadly distribute them to the scientific community as research resources.
To Apply for JumpStart Research Tools Matching Grant Program: Induced Pluripotent Stem cells (iPSCs)
Please review the Request for Applications (RFA)
Complete the Application Form on Submittable.
JumpStart Research Tools Matching Grant Program: Mouse Models
Animal models have become an important tool for studying human disease mechanisms. Mouse models are essential in the drug discovery process. Many scientists in the early stages of researching rare and ultra-rare disorders, lack an existing mouse line to begin the necessary work on studying the rare disease mechanisms. Identifying these mechanisms is one of the first steps in developing treatments.
This Research Tool grant program will partner with the Jackson Laboratory Rare and Orphan Disease Center to offer the opportunity for families or patient organizations to develop a mouse model for a specific rare disease that can then be purchased by researchers in academia or industry.
To Apply for JumpStart Research Tools Matching Grant Program: Mouse Models
Please review the Request for Applications (RFA)
Complete the Application Form on Submittable.
Million Dollar Bike Ride 2021 Pilot Grant Program
The ODC is offering 42 research opportunities focusing on 29 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2021 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.
Full Applications are Due Monday, October 18, 2021 by 8pm EST, by invitation only.
To Apply:
Please review the Request for Applications (RFA)
Complete Cover Page to be uploaded with full application
Complete Budget Form to be uploaded with full application
Complete the Application Form on Submittable.
The MDBR 2021 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 2021 MDBR Grant Program:
2021 CDKL5 Pilot Grant Program
The ODC and Loulou Foundation CDKL5 Pilot Grant Program provides a one‐year grant for $150,000.00 (total cost) to support research related to CDKL5 Deficiency Disorder (CDD). The number of awards is not fixed, and may vary.
Full Applications (by invitation only) are Due Friday, March 26, 2021 by 8pm EST
To Apply:
Please review the "Full Application Instructions and Review Criteria" section of the 2021 CDKL5 Program of Excellence Pilot Grant Program RFA Guidelines.
Download and complete the Research Budget Template
Please find Cover Page/Signature page in your Submittable account, these were emailed to invited applicants through Submittable.
Complete the Application Form on Submittable. Full applications are invitation only.
To review the LouLou Foundation's patent policy please click here
For any scientific inquiries regarding this grant please email Alexis Zavez.
For any administrative inquiries regarding this grant please email Samantha Charleston.
Million Dollar Bike Ride 2020 Pilot Grant Program
The ODC is offering 38 research opportunities focusing on 29 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2020 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.