Latest news with #PeutzJeghersSyndrome
Yahoo
13-08-2025
- Health
- Yahoo
National Organization for Rare Disorders (NORD) Announces Annual Seed Grant RFPs Totaling $245,000 to Accelerate Research for Five Rare Diseases
QUINCY, Mass., Aug. 13, 2025 /PRNewswire/ -- The National Organization for Rare Disorders (NORD®), a leading national nonprofit serving more than 30 million Americans with rare diseases, announced five new requests for proposal (RFP) totaling $245,000 in seed grant funding. These grants were funded by the Appendix Cancer/Pseudomyxoma Peritonei Research Foundation; the Peutz-Jeghers Syndrome community; the Epidermodysplasia Verruciformis community; the Pseudomyxoma Peritonei community; and Dylan's Rare Chromosome Dream Team and the Partial Trisomy 6q community. The grants are part of NORD's Rare Disease Research Grant Program, which provides essential early-stage funding to jumpstart promising investigations and accelerate the development of potential treatments for rare diseases where therapeutic options are limited or nonexistent. This cycle, NORD is seeking proposals for the following rare diseases: Chromosome 6, Partial Trisomy 6q – An extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Epidermodysplasia Verruciformis (EV) – A rare genetic genodermatosis characterized by a compromised immunologic ability to defend against and eradicate certain types of human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non-melanoma skin cancer. Peutz-Jeghers Syndrome (PJS) – A rare genetic condition characterized by the development of benign polyps in the stomach and the intestines (gastrointestinal tract) and by distinctive dark spots on the skin and mucous membranes. Pseudomyxoma Peritonei (PMP) – A rare malignant growth characterized by the progressive accumulation of mucus-secreting (mucinous) tumor cells within the abdomen and pelvis. Appendix Cancer/Pseudomyxoma Peritonei (ACPMP) – An extremely rare cancer of the appendix that typically starts in the appendix and frequently spreads to the abdominal cavity, which can lead to either a build-up of mucinous fluid in the abdomen known as pseudomyxoma peritonei or a condition referred to as peritoneal carcinomatosis. Recipients will be awarded to qualified researchers to initiate small scientific research studies or clinical trials with the potential to attract larger funding from agencies like the National Institutes of Health (NIH), the U.S. Food and Drug Administration (FDA), or corporate sponsors. This early support helps expand promising early-stage projects into comprehensive, multi-phase studies that can lead to new treatments for rare and complex diseases. Applications will be reviewed by NORD's Medical Advisory Committee, a panel of volunteer rare disease medical experts. How to Apply: The application period opens on Aug. 13, 2025, and closes on Oct. 12, 2025 (11:59 p.m. PT). Researchers at accredited academic institutions, hospitals and nonprofit research centers, and early-career investigators are encouraged to apply. Learn more and view application instructions here. About NORD's Rare Disease Research Grant Program Since 1989, NORD has awarded more than $9 million in research grants to advance scientific discovery for rare diseases that lack treatment and research funding. With fewer than 5% of the approximately 10,000 known rare diseases having an FDA-approved therapy, and the cost to develop a prescriptive medication costing millions of dollars, early-stage funding plays a critical role in unlocking progress. NORD's grant program has jump-started critical rare disease research, supported numerous peer-reviewed publications, and contributed to the development of two FDA-approved treatments. About the National Organization for Rare Disorders Founded in 1983, the National Organization for Rare Disorders (NORD®) is a leading independent, nonpartisan, nonprofit patient advocacy organization dedicated to improving the health and lives of over 30 million Americans living with rare diseases. In partnership with more than 350 disease-specific member patient organizations, NORD drives progress in rare disease research, care, and policy. Learn more at View original content to download multimedia: SOURCE National Organization for Rare Disorders (NORD®) Sign in to access your portfolio
Medscape
23-07-2025
- Health
- Medscape
Rapid Review Quiz: Noncolorectal Gastrointestinal Cancers
Noncolorectal gastrointestinal (GI) cancers represent a clinically significant and diverse group of malignancies impacting patient outcomes across multiple organ systems. Given the range in epidemiology, risk factors, and management strategies for these cancers, it is essential for clinicians to recognize and stay up to date on current guidelines related to their surveillance, diagnosis, and treatment. Familiarity with the evolving landscape of noncolorectal GI cancers is foundational for effective clinical decision making in everyday practice. According to current National Comprehensive Cancer Network (NCCN) guidelines, pancreatic cancer surveillance should be considered in individuals with pathogenic variants in the STK11 germline, such as Peutz-Jeghers syndrome. An expert review of the current clinical practice guidance from the American Gastroenterological Association concurs that surveillance should be considered in patients with Peutz-Jeghers syndrome or other genetic syndromes associated with an increased risk of pancreatic cancer. Having only one first-degree relative with pancreatic cancer can increase risks; however, surveillance is generally recommended only when there is a stronger family history, such ≥ 2 affected relatives (along a the first-degree relative with pancreatic cancer) or additional genetic risk factors. Although smoking is a known risk factor for pancreatic cancer, surveillance in all smokers is typically not advised. Learn more about workup for pancreatic cancer. Over the past several decades, the number of new esophageal squamous cell carcinoma cases has declined in Western nations, including the US. However, the number of new esophageal adenocarcinoma diagnoses has simultaneously risen considerably in the West. This is consistent with other epidemiological data. Esophageal squamous cell carcinoma, rather than esophageal adenocarcinoma, has been strongly linked to alcohol use. Conversely, esophageal adenocarcinoma is more strongly associated with GERD and Barrett esophagus. Of the two main types of esophageal cancer, data indicate squamous cell carcinoma generally has a poorer prognosis than adenocarcinoma. Learn more about the background of esophageal cancer. Although incidence is decreasing, hepatitis B infection remains the most common cause of HCC globally. However, MASLD has overtaken hepatitis C virus infection as the leading cause of HCC in patients listed for liver transplantation in the US. Further, one study found that MASLD represented the most common (35.6%) underlying cause of the condition. Alcohol-associated liver disease accounts for a minority of HCC cases in the US, representing up to 5.6% in recent analyses. Learn more about HCC etiology. Gallstones are an established risk factor for gallbladder carcinoma. Most cases of gallbladder cancer are adenocarcinoma rather than squamous cell carcinoma. Unfortunately, gallbladder carcinomas are usually identified at nonresectable stages , largely owing to the similarity in symptoms to more benign conditions, such as cholecystitis. Jaundice is typically an indicator of poor prognosis in gallbladder carcinoma. Learn more about deterrence/prevention of gallbladder cancer. The latest guidelines from the NCCN recommend patients with previously untreated, advanced, HER2-positive gastric cancer receive a combination of platinum- and fluoropyrimidine-based chemotherapy and HER2-targeted therapy in the form of trastuzumab as an initial therapy. Guidelines from the American Society of Clinical Oncology similarly recommend trastuzumab plus pembrolizumab in conjunction with chemotherapy that is either fluoropyrimidine- or oxaliplatin-based as an initial therapy for this population. Chemotherapy with ICI is generally indicated for HER2-negative cases, not as an initial therapy in HER2-positive cases. Chemotherapy alone is not considered optimal therapy in confirmed HER2-positive cases, and ICI monotherapy is not recommended as an initial therapy for this group. Learn more about the treatment of gastric cancer.
