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:

1. Adult Polyglucosan Body Disease (APBD)

2. Ataxia-Telangiectasia (A-T)

3. BPAN- A Neurodegeneration with Brain Iron Accumulation Disorder

4. CACNA1A-Related Disorders

5. CADASIL

6. Castleman Disease

7. CDKL5 Deficiency Disorder

8. Choroideremia (CHM)

9. Complex Lymphatic Anomalies (CLA)

10. Congenital Hyperinsulinism (CHI)

11. Congenital Muscular Dystrophy (CMD)

12. Cohen Syndrome (COH)

13. CRB1

14. CSNK2A1

15. CTNNB1

16. Dup15q

17. Dyskeratosis Congenita & Telomere Biology Disorder

18. Fibrous Dysplasia/McCune Albright Syndrome

19. Glut1 Deficiency Syndrome

20. KCNT1

21. Lesch-Nyhan Syndrome (LNS)

22. Lymphangioleiomyomatosis (LAM)

23. Mucopolysaccharidoses (MPS)

24. MPS Gene Spotlight: Mucopolysaccharidosis (MPS I)

25. Neuroendocrine cell Hyperplasia of Infancy (NEHI)

26. Pitt Hopkins Syndrome (PTHS)

27. RASopathies

28. Ring 14

29. SCN2A

30. Schinzel-Giedion Syndrome (SGS)

31. SETBP1 Haploinsufficiency Disorder

32. STXBP1 Encephalopathy

33. SynGAP1

34. TBC1D24

35. ZC4H2

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

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:

1. Please review the Request for Applications (RFA)

2. 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:

1. Adult Polyglucosan Body Disease (APBD)

2. Ataxia-Telangiectasia (A-T)

3. BPAN- A Neurodegeneration with Brain Iron Accumulation Disorder

4. CACNA1A-Related Disorders

5. CADASIL

6. Castleman Disease

7. CDKL5 Deficiency Disorder

8. Choroideremia (CHM)

9. Complex Lymphatic Anomalies (CLA)

10. Congenital Hyperinsulinism (CHI)

11. Congenital Muscular Dystrophy (CMD)

12. Cohen Syndrome (COH)

13. CRB1

14. CSNK2A1

15. CTNNB1

16. Dup15q

17. Dyskeratosis Congenita & Telomere Biology Disorder

18. Fibrous Dysplasia/McCune Albright Syndrome

19. Glut1 Deficiency Syndrome

20. KCNT1

21. Lesch-Nyhan Syndrome (LNS)

22. Lymphangioleiomyomatosis (LAM)

23. Mucopolysaccharidoses (MPS)

24. MPS Gene Spotlight: Mucopolysaccharidosis (MPS I)

25. Neuroendocrine cell Hyperplasia of Infancy (NEHI)

26. Pitt Hopkins Syndrome (PTHS)

27. RASopathies

28. Ring 14

29. SCN2A

30. Schinzel-Giedion Syndrome (SGS)

31. SETBP1 Haploinsufficiency Disorder

32. STXBP1 Encephalopathy

33. SynGAP1

34. TBC1D24

35. ZC4H2

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.