Award Data

ABSTRACT Lymphangioleiomyomatosis (LAM) is a Tuberous sclerosis-related disorder. Both occur due to an inherited or sporadic mutation in either the TSC1 or TSC2 gene, which function as negative regulators of the mTOR pathway. Uncontrolled mTORC1 activity leads to the neoplastic proliferation of abnormal smooth muscle cells (LAM cells) in the lungs, progressive shortness of breath, recurrent pneumo ...

PROJECT SUMMARY/ABSTRACT Post-traumatic osteoarthritis (PTOA) is a degenerative disease of cartilage brought on by traumatic injury to the articular joints. Acute joint injury is followed by severe joint pain and inflammation. This results in much more rapid degeneration of cartilage than in other forms of osteoarthritis, due to the joint instability caused by trauma as well as the increase in pro ...

Abstract Alcohol use disorder (AUD) is a major global health issue. In the US, AUD affects over 14 million people over the age of 18. While there are three approved drugs for AUD, less than 4% of patients eligible for pharmacotherapy are prescribed a medication – likely due to limited efficacy of currently approved agents. Also, the relapse rate for AUD continues to be exceedingly high. Thus, ne ...

PROJECT SUMMARY Early adolescence, between the ages of 10-13, is a critical time for sexuality development. It is a period when most young people enter puberty and have new questions about bodies, relationships, and sexual activity. However, the majority of US adolescents enter this early adolescent period without access to the kind of inclusive, comprehensive sex education that could help them de ...

PROJECT SUMMARY/ABSTRACT This project proposes the development of technologies to provide low-cost monitoring of phenylalanine (Phe) levels in the blood by a simple, noninvasive, at-home urine test, in order to enable daily monitoring by individuals with phenylketonuria (PKU). Also known as phenylalanine hydroxylase deficiency, PKU is a rare inborn error of metabolism that occurs in the US at a fr ...

PROJECT SUMMARY Atypical teratoid/rhabdoid tumors (AT/RT) are rare embryonal central nervous system malignancies that occur in early childhood and are lethal. Current treatment strategies for children diagnosed with AT/RT are limited to surgery, radiation, and chemotherapy, but to date, none of these have successfully improved survival beyond 18 months, and most are associated with significant tox ...

PROJECT SUMMARY Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic disorder in the world and affects 650,000 Americans. ADPKD is caused by mutations in Pkd1 or Pkd2 that trigger proliferation and fluid secretion by renal tubular epithelial cells into cysts, which bilaterally enlarge the kidney and lead to progressive loss of kidney function. There is no cure for ADPK ...

ABSTRACT Degenerative joint diseases such as osteoarthritis (OA) remain the source of significant pain and disability, affecting over 30 million adults with an annual US economic burden of more than $486 billion. Joint replacement is a well-established procedure, but its finite life span makes this treatment unacceptable for younger (under 65) or more active individuals. For this growing patient p ...

ABSTRACT The goal of this STTR proposal is to develop a novel anti-fibrotic agent suitable for oral administration which could be used to safely and effectively treat Systemic Sclerosis (SSc), or Systemic Scleroderma patients. SSc is one of the most disabling and lethal immune-mediated rheumatic disorders. SSc is a rare disease, affecting 40,000-150,000 people in the United States and conferring a ...

Lupus nephritis (LN), an immune complex-mediated glomerulonephritis, affects up to two-thirds of patients with systemic lupus erythematosus. Despite standard treatment protocols, progression of the most aggressive forms of LN (class III and IV) to end-stage renal failure remains high. Thus, there is a need for biomarkers of therapeutic response that would allow physicians to make better-informed t ...