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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

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

Researchers at the VIB-UAntwerp Center for Molecular Neurology have visualized how brain network development is altered in a model of KCNQ2-related developmental and epileptic encephalopathy, a rare childhood brain disorder.

31 Oct 2025

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

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

27 Oct 2025

New breakthrough enables whole genome sequencing in hours

Boston Children's Hospital, along with Broad Clinical Labs and Roche Sequencing Solutions, has demonstrated that rapid genomic sequencing and interpretation are achievable in a matter of hours.

16 Oct 2025

Longevity gene offers hope for children with progeria

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.

15 Oct 2025

New method can create reliable growth charts for children with rare genetic disorders

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by the University of Bristol.

13 Oct 2025

Survey reveals strong support for patient involvement in allergy research

A team of researchers from Keio University School of Medicine, the Institute of Medical Science at the University of Tokyo, and the National Center for Child Health and Development has reported the first cross-disease, cross-stakeholder survey on PPIE in Japan.

9 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

NIH funds multi-state pilot for genome sequencing in newborn screening

Mass General Brigham and Ariadne Labs, alongside Boston Children's Hospital, Albert Einstein College of Medicine, the Association of Public Health Laboratories (APHL), Case Western Reserve University, Baylor College of Medicine, and sequencing partners GeneDx and Illumina, today announced the launch of BEACONS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening), the nation's first multi-state genomic newborn screening initiative.

2 Oct 2025

The World Orphan Drug Congress Europe heads to Amsterdam for the first time, uniting experts and leaders from rare disease research, patient advocacy, biotech, and pharma to make this the must-attend R&D event in Europe

Sessions will span the full spectrum of orphan drug development, including Regulatory & Policy, Gene and Cell Therapy, Clinical Trial Design, Pricing & Reimbursement, Real World Evidence, Patient Engagement, and more.

From World Orphan Drug Congress 2 Oct 2025