Rare Disease News and Research

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New Open-Access Protein Atlas Aims to Streamline Future Drug Development

For a new drug to work in the human body, it must make its way to the exact cell type where it's needed and then, in many cases, get inside the cells.

24 Aug 2026

Open-Source Genomic Tool Accelerates Diagnoses for Rare Diseases

A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses.

26 Jun 2026

New Karyoptosis Mechanism Linked to Alzheimer's and Frontotemporal Dementia

Markers of a new mechanism for cell death, called karyoptosis, have been found in brains of patients with Alzheimer's disease and frontotemporal dementia (FTD).

26 Jun 2026

One Breakthrough DNA Test Replaces Fifteen Standard Rare Disease Diagnostics

A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often.

15 Jun 2026

Structured National Genomic Program can be Effective for Rare Disease Diagnosis

For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing fear that a clear answer might never come. For nearly half of the children enrolled in the Telethon Undiagnosed Disease Program (TUDP), that wait is now over.

21 Apr 2026

Non-Coding DNA Mutations Identified as Cause of Rare Neonatal Diabetes

Scientists have found new genetic causes for diabetes in babies – in a part of the genome that has historically been overlooked in genetic studies.

10 Apr 2026

Cellares to Expand Automated Manufacturing to Gene-Edited Stem Cell Therapies

Cellares, the first Integrated Development and Manufacturing Organization (IDMO), today announced a collaboration with the Stanford Center for Definitive and Curative Medicine (CDCM) and Stanford Innovative Medicines Accelerator (IMA) to automate manufacturing and release testing for gene-edited hematopoietic stem cell (HSC) therapies, expanding the application of Cellares' automation platforms beyond T cell therapies into a new cell modality.

From Cellares 8 Feb 2026

Study Challenges Long-Held Assumptions About Mendelian Retinal Disorders

A new study challenges what's long been assumed about genetic variants thought to always cause inherited blindness.

23 Dec 2025

Wasatch Biolabs Announces Co-Marketing Agreement with Agilent to Advance Native-Read Targeted Sequencing

Wasatch BioLabs (WBL), a leader in native, long-read sequencing and epigenomic analysis, today announced a co-marketing agreement with Agilent Technologies to support the adoption of its Direct Targeted Methylation Sequencing (dTMS) platform.

22 Dec 2025

Researchers Find "Hidden" Mutations by Tracing Protein Isoforms

Approximately 25 million individuals in the United States are affected by a rare genetic disorder, and a significant number of them face challenges not only due to the absence of effective treatments but also because of insufficient information regarding their condition.

10 Nov 2025

Discovery of Glucocorticoid Receptor Multimerization Opens Path to Safer Therapies

Drugs to treat inflammatory and autoimmune diseases - such as asthma, psoriasis, rheumatoid arthritis or Chrousos syndrome - act mainly through the glucocorticoid receptor (GR).

28 Oct 2025

Longevity Gene from Centenarians Reverses Heart Damage in Rare Genetic Disorder

A new breakthrough in a rare genetic disease which causes children to age rapidly has been discovered using 'longevity genes' found in people who live exceptionally long lives - over 100 years old.

16 Oct 2025

Wasatch Biolabs Expands Service Portfolio with Oxford Nanopore Assays in Pharmacogenomics, Telomere Sequencing, and mRNA Vaccine Quality Control

Wasatch BioLabs (WBL), a Renew Biotechnologies subsidiary, and the largest U.S. sequencing service provider dedicated exclusively to long-read sequencing, today announced the addition of three Oxford Nanopore-developed research-use-only (RUO) assays to its service portfolio: a Pharmacogenomics (PgX) panel, Telomere Sequencing, and mRNA Vaccine Quality Control.

7 Oct 2025

Engineered Base Editor Corrects ACTA2 Mutation in Rare Childhood Disease

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare condition associated with stroke, aortic dissection (tearing) and death in childhood.

13 Sep 2025

Prime Editing Reverses Symptoms of Severe Childhood Neurological Disease

Scientists use a precise form of gene editing called prime editing to correct the most common genetic mutations that cause alternating hemiplegia of childhood, a rare and severe neurological disorder that begins in infancy.

From The Jackson Labs 6 Aug 2025

Every Newborn Sequenced Within a Decade: What Does This Mean for Healthcare?

We spoke with Neil Ward from PacBio about England’s plan to introduce whole genome sequencing for every newborn, and how long-read technology is shaping the future of early diagnosis around the world.

29 Jul 2025

Gene Editing Reverses Symptoms of Rare Brain Disorder in Mice

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with neurological diseases.

22 Jul 2025

New Discovery Explains Increased Infection Risk in Patients with Mitochondrial Diseases

Patients with rare mitochondrial diseases already face a host of serious health issues, from muscle weakness to neurological problems and heart conditions.

21 May 2025

Genomics can Transform Care for Children with Rare Diseases

A simple genomics blood test could improve treatment and care for childhood epilepsy, but more investment is needed to make access fair and securely join up the data, finds a new study involving researchers at University College London (UCL) and Great Ormond Street Hospital for Children (GOSH).

8 Mar 2025

Long-Read Sequencing Brings New Hope for Rare Disease Diagnosis and Treatment

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.

27 Jan 2025