Rare Disease News and Research

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Element Biosciences introduces VITARI™, redefining what high-throughput sequencing makes possible

Element Biosciences Inc. today announced VITARI, the first ever high-throughput benchtop sequencing system capable of delivering a high-quality whole genome at $100.

25 Feb 2026

DeepRare AI helps shorten the rare disease diagnostic journey with evidence-linked predictions

Researchers developed DeepRare, an LLM-driven multi-agent diagnostic system that integrates clinical descriptions, phenotype data, and genomic information to improve rare disease identification. Across thousands of cases, the system showed higher diagnostic recall than existing AI tools and clinicians in benchmark testing, while providing traceable reasoning linked to medical evidence.

19 Feb 2026

Axol Bioscience acquires ophthalmology business from Newcells Biotech

Axol Bioscience Ltd. (Axol), a leading provider of induced pluripotent stem cell (iPSC) technologies for drug discovery and research, today announced that it has acquired the ophthalmology business of Newcells Biotech (Newcells), a leading drug discovery partner specializing in the development of in vitro models and bespoke assay services.

18 Feb 2026

Polygenic analysis provides new insight into hypermobile Ehlers–Danlos syndrome

Hypermobile Ehlers–Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders.

10 Feb 2026

Childhood cancer survival varies by tumor stage at diagnosis

A major study by UCL and Fondazione IRCCS Istituto Nazionale dei Tumori in Milan (INT) researchers has for the first time shown in detail how far children's cancer has spread at diagnosis in a way that can be compared between countries.

9 Feb 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

Two harmful gene variants can combine to restore normal protein function

In a groundbreaking study published in the in Proceedings of the National Academy of Sciences (PNAS), scientists at Pacific Northwest Research Institute (PNRI) have overturned a long-held belief in genetics: that inheriting two harmful variants in the same gene always worsens disease.

12 Jan 2026

New partnership launches marketplace to revive deprioritized cell and gene therapies

The American Society of Gene & Cell Therapy (ASGCT), the leading professional organization for the advancement of cell and gene therapies (CGTs), and the Orphan Therapeutics Accelerator (OTXL), a non-profit biotech focused on completing development and enabling access to stalled rare disease treatments, today announced a partnership to establish CGTxchange, a jointly owned entity that will serve as a clearinghouse and marketplace for deprioritized CGTs.

7 Jan 2026

Rethinking Mendelian assumptions in inherited retinal degenerations

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

22 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.

From Wasatch BioLabs 22 Dec 2025

Genome-edited immune cell therapy shows promise for treating aggressive blood cancer

A groundbreaking new treatment using genome-edited immune cells, developed by scientists at UCL (University College London) and Great Ormond Street Hospital (GOSH), has shown promising results in helping children and adults fight a rare and aggressive form of blood cancer called T-cell acute lymphoblastic leukemia (T-ALL).

8 Dec 2025

AI model ranks genetic variants from severe to mild disease mutations

popEVE combines evolutionary insights with human population data to identify damaging genetic mutations, improving variant scoring for rare diseases.

3 Dec 2025

ASHG to host Genetic Diagnosis & Rare Disease Virtual Symposium

The American Society of Human Genetics (ASHG) will host the Genetic Diagnosis & Rare Disease Virtual Symposium on December 2-3. This initiative ensures that groundbreaking research and clinical innovations are accessible to scientists, clinicians, and educators.

22 Nov 2025

Research provides new insights into postoperative risk stratification for ampullary adenocarcinoma

Despite advances in cancer care, treatment strategies for ampullary adenocarcinoma (AAC) remain uncertain. Its anatomic location and biological diversity lead to variable clinical behavior and outcomes.

13 Nov 2025

Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms

Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of rare disease, and present case studies of affected patients through a collaboration with Boston Children's Hospital.

7 Nov 2025

Studies reveal how hereditary angioedema disrupts the lives of children and families

Two new studies being presented at the 2025 American College of Allergy, Asthma and Immunology (ACAAI) Annual Scientific Meeting in Orlando shed light on how hereditary angioedema (HAE) – a rare, potentially life-threatening disease which causes unpredictable swelling – profoundly affects the daily lives, emotional wellbeing, and medical experiences of young patients and their caregivers.

6 Nov 2025

Rare Disease News and Research

Element Biosciences introduces VITARI™, redefining what high-throughput sequencing makes possible

DeepRare AI helps shorten the rare disease diagnostic journey with evidence-linked predictions

Axol Bioscience acquires ophthalmology business from Newcells Biotech

Polygenic analysis provides new insight into hypermobile Ehlers–Danlos syndrome

Childhood cancer survival varies by tumor stage at diagnosis

Cellares to expand automated manufacturing to gene-edited stem cell therapies

Two harmful gene variants can combine to restore normal protein function

New partnership launches marketplace to revive deprioritized cell and gene therapies

Rethinking Mendelian assumptions in inherited retinal degenerations

Wasatch Biolabs announces co-marketing agreement with Agilent to advance native-read targeted sequencing

Genome-edited immune cell therapy shows promise for treating aggressive blood cancer

AI model ranks genetic variants from severe to mild disease mutations

ASHG to host Genetic Diagnosis & Rare Disease Virtual Symposium

Research provides new insights into postoperative risk stratification for ampullary adenocarcinoma

Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms

Studies reveal how hereditary angioedema disrupts the lives of children and families

Researchers visualize how brain network development is altered in rare childhood disorder

New study reveals how the glucocorticoid receptor forms complex structures inside cells

New breakthrough enables whole genome sequencing in hours

Longevity gene offers hope for children with progeria

Advancing Neuroscience Research Through Collaboration and Patient-Centered Innovation

The impact of vibration on microscopy

How Omics Technologies Are Transforming Biological Research and Drug Discovery

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