The researchers describe the motivation to help geneticists.

Published Date: 29 Mar 2023

A new article providing an overview of the application and submission process for Orphan Drug Designation (ODD) and Rare Pediatric Disease Designation (RPDD) from the United States Food and Drug Administration (FDA) may be helpful.

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Take 5 minutes to catch up on NeurologyLive®'s highlights from the week ending October 2, 2026.

Todays Updates

Trappsol Cyclo Misses Primary End Point in Phase 3 Trial for Niemann-Pick Disease Type C Isabella Ciccone, MPH

Findings from the phase 3 TransportNPC study showed that Trappsol Cyclo missed the primary end point in Niemann-Pick type C, but subgroup and survival data support planned 2026 NDA.

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Take 5 minutes to catch up on NeurologyLive®'s highlights from the week ending October 2, 2026.

Latest News

In a surprising discovery, a "sticky molecule" that occurs naturally in our blood vessels could be both a culprit behind blood clots and organ failure during COVID and long COVID and the key to new treatments to counter COVID-related ...

A new discovery from the lab of YouYang Zhao, Ph.D., from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago, opens promising new directions for treatment of life-threatening ...

Genetic susceptibility to neurodevelopmental conditions such as schizophrenia, autism, and ADHD can be linked, in part, to distinct epigenetic signatures in newborn cord blood. An analysis of nearly 6,000 newborns published ...

In a major step forward for cancer care, researchers at ChristianaCare's Gene Editing Institute have shown that disabling the NRF2 gene with CRISPR technology can reverse chemotherapy resistance in lung cancer. The approach ...

Mice pups conceived with in vitro fertilization (IVF) in the lab have slightly increased rates of DNA errors, or mutations, compared to pups conceived naturally, a new study on artificial reproductive technologies suggests.

Researchers have identified that the precisely timed transcription of two genes named grim and reaper is responsible for the targeted death of neurons within the developing nervous system of female flies. This group of neurons ...

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Surprising blood stem cell diversification revealed in humans

Every second, millions of blood cells are produced in the human body, and about 90% of the cells replaced daily are blood cells. These include red blood cells essential for oxygen transport, platelets for blood clotting, ...

Q&A: Research offers hope for new autoimmune treatments

Alec Whited ('25 MS, Biology) is helping uncover how cells remove waste, a process that could lead to better treatments for autoimmune diseases and improved wound healing.

Tracking RNA levels reveals new clues in triple-negative breast cancer progression

When researchers look for potential cancer therapy targets, they typically go after protein-coding genes that participate in disease progression. Disrupt them and negate whatever role they play in cancer's development or ...
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Genetically altered hair cells show how inner ear structures are organized

Northwestern Medicine scientists have uncovered how a specific type of cell in the inner ear plays a commanding role in shaping the cellular landscape of the organ responsible for hearing, according to a study published in ...

Key histone variant may explain some forms of infertility

An epigenetic factor that is essential for producing mature egg cells in mice has been identified by RIKEN researchers for the first time. This discovery could aid research into cases of infertility caused by immature eggs.

Hundreds of genes act differently in the brains of men and women

Differences between men and women in intelligence and behavior have been proposed and disputed for decades.
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Study identifies key genes linked to aggressive prostate cancer in people of African descent

New prostate cancer research from an international team led by the Center for Genetic Epidemiology at the Keck School of Medicine of USC has yielded discoveries that could improve screening and treatment for patients of African ...

Experimental drug blocks key protein to trigger cancer cell self-destruction in lung tumors

NYU Langone Health researchers found that a type of cell death caused by a buildup of highly reactive molecules suppresses lung tumor growth.

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Like the astronomical explosion that kickstarted the universe, bowel cancer has a "Big Bang" moment which determines how it will grow, according to new research.

DNA discovery could help identify mothers at risk of pre-eclampsia

The human genome is riddled with relics of viral infections—bits of DNA from viruses that have been inserted in human DNA over millions of years and never left. Most are silent but some have taken on functional roles, particularly ...
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