Rare disease research can be difficult to conduct, with one of the major contributing factors being funding. Research is expensive, and I mean really expensive. That’s why grant funding and other donations are so important. Luckily, organizations like NORD are large providers of money meant to benefit the rare disease community. Most recently, they have announced three separate grants meant to benefit research for three different rare diseases.
Autoimmune Polyglandular Syndrome 1 (APS-1)
APS-1 is one of a group of rare disorders characterized by autoimmune activity focused on the endocrine organs, like the pancreas, adrenal gland, etc. This means that the immune system mistakenly attacks the body – in this case, the organs of the endocrine system – rather than foreign invaders and infections. A mutated AIRE gene, which is passed down in an autosomal recessive pattern, is responsible for this condition.
While symptoms may vary between affected individuals, they include:
- Addison’s disease
- Type 1 diabetes
- Ovarian failure
- Chronic mucocutaneous candidiasis
- This cause recurring yeast infections of the skin, mucous membranes, oral cavity, and nails
- Autoimmune liver disease
- Cancers of the tongue and gastrointestinal system
- Pernicious anemia
- This is early-onset as the result of atrophic gastritis
Funding for APS-1 Research
NORD’s grant money was raised by APS Type 1 Foundation and will be given in the form of one $50k grant. Researchers conducting clinical or scientific research focused on APS-1 must apply with a letter of intent before Tuesday, June 21st. If you are interested in learning more or applying, click here.
Levy-Yeboa Syndrome (LYS)
LYS is an extremely rare, congenital, multi-system disorder. Affected individuals face hearing loss, low muscle tone, joint contractions, bullous eruptions, and an intense gastrointestinal issue known as secretory diarrhea. Medical professionals are unsure of the exact cause of this disorder, but they suspect that the KCNQ gene may be involved. In terms of treatment, it is focused on the specific symptoms present in each case.
It is difficult to nail down concrete information on LYS, as there are only three confirmed cases in medical literature. In addition, this disorder was only recently recognized and named in the healthcare sphere.
Funding for LYS Research
The Maxwell family provided the money for this grant, which amounts to one sum of $40k. It shares the same deadline as the application for the APS-1 grant – June 21st. You can apply and learn more here.
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS)
MMIHS is another extremely rare and congenital condition. The ACTG2 gene is mutated in affected individuals, and it is inherited in an autosomal dominant pattern, or it is the result of a sporadic mutation. These genetic changes result in symptoms like megacystis (non-obstructed, largely dilated bladder), absent or decreased intestinal movements, microcolon, bladder dysfunction, the failure to pass the first bowel movement after birth, and vomiting. There is no cure for this condition; doctors will treat the symptoms apparent in each individual.
Funding for MMIHS
With funding provided by the MMIHS Foundation, this grant will be awarded to one recipient in the amount of $30k. Medical professionals focusing on scientific and/or clinical research surrounding MMIHS can apply for this grant and must do so before Tuesday, June 21st. To learn more and apply, visit NORD.
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