National Center for Advancing Translational Sciences

05/21/2025

A study supported by ’s Rare Diseases Clinical Research Network (RDCRN) collected data from people with amyotrophic lateral sclerosis (ALS) to better understand what biomarkers could help researchers track and predict the progression of .

Learn more about what they discovered, which could impact future trials and play a role in developing new treatments: https://go.nih.gov/3i2TfMA

05/13/2025

Amyotrophic lateral sclerosis (ALS) is a rare, progressive and incurable disorder that damages the brain and nervous system. A recent study supported by ’s Rare Diseases Clinical Research Network (RDCRN) showed how the level of a protein in the blood called neurofilament light (NfL) could help predict ALS survival and decline and might be used in designing new clinical trials to test potential treatments.

Learn more: https://go.nih.gov/3i2TfMA

05/08/2025

Colorectal cancer is the second-leading cause of cancer deaths in the United States. New research made possible through partial support from the Clinical and Translational Science Awards (CTSA) Program found that mailing stool-based tests with an offer for more personal follow-up with a patient navigator could increase screening in rural areas, where rates are typically low. These screenings have been shown to reduce the incidence of and mortality associated with colorectal cancer. Read more about this -supported research: https://go.nih.gov/hjQuE8S

04/30/2025

this research was supported in part by the ! Read more about the potential impact of this research. ⬇️

An artificial intelligence (AI) screening tool identified patients at risk for opioid use disorder and helped reduce readmission to hospitals.

03/27/2025

An NIH-supported study used an innovative approach known as a concise summary form to make the eConsent process more efficient. eConsent systems often make the clinical trial enrollment process clearer and faster than traditional in-person consent. The eConsent form could help future studies enroll participants in ways that are preferred by all.

Learn more about the study: https://go.nih.gov/e2wb4Zn

03/17/2025

Most are caused by a single gene mutation, making them potential candidates for gene-targeted therapies. These therapies can greatly improve health outcomes when the diseases are diagnosed early.

The -funded Newborn Screening by Whole Genome Sequencing ( ) Collaboratory is focused on enhancing early diagnosis of genetic conditions by screening newborns for rare diseases with available interventions. The initiative will explore the feasibility of integrating whole genome sequencing into United States public health newborn screening programs.
View the initiative page for details and learn more about its first : https://commonfund.nih.gov/venture/nbsxwgs

03/04/2025

A new study from Penn State Clinical and Translational Science Institute (CTSI) researchers found that an irregular schedule can have lasting effects on young people’s heart health, increasing risks later in life. These findings suggest that having a regular sleep cycle may be key to protecting adolescent .

This research was supported by NCATS’ , the National Institute of Mental Health and the National Heart, Lung, and Blood Institute (NHLBI).

Read more: https://www.psu.edu/news/research/story/timing-and-regularity-sleep-may-be-key-adolescent-heart-health

02/28/2025

are key to developing and evaluating new treatments for . We worked with the Eunice Kennedy Shriver National Institute of Child Health and Human Development to fund for Rare Diseases, Disorders and Syndromes grants to improve our understanding of rare diseases. These grants will also address other obstacles scientists face, like a lack of suitable biomarkers. Read more: https://go.nih.gov/yKGLcus

02/28/2025

Rare diseases have a home at NCATS, and we were proud to light up Building 1 at the center of the National Institutes of Health (NIH) campus in recognition of . NCATS Director Joni Rutter, Division of Rare Diseases Research Innovation Director Dominique Pichard, and the rest of our team stand in support of the community today and every day.

02/27/2025

NCATS’ helped support this research! Read more about the findings. ⬇️

02/27/2025

Although the FDA-NIH Rare Disease Day is postponed, our commitment to the rare disease community remains strong. Thank you for your continued work raising awareness, developing cures and treatments, and offering resources that give hope to the millions of people in this country affected by rare diseases.

Stay tuned for updates on the rescheduled event.

02/25/2025

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that affects the brain, spinal cord and immune system. 🧠

With funding from the National Institute of Neurological Disorders and Stroke - NINDS researchers from the Global Leukodystrophy Initiative — part of the NCATS-led Rare Diseases Clinical Research Network (RDCRN) — published a study showing how a pair of objective assessment tools can be used to measure the cognitive abilities and non-verbal learning skills for children with AGS. The findings could allow doctors to provide the right kinds of support and therapy. Learn more: https://go.nih.gov/WZ06hQR