Mutation News and Research

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Structural study identifies unexpected cancer-regulating functions of MLL4 protein

The epigenetic modifier MLL4 has an unassuming name-the 4, for instance, indicates it's just one in a family of such modifiers.

13 Jul 2026

Transplanted neural progenitor cells survive one year in patients with retinitis pigmentosa

New, previously unpublished clinical data was presented today at ISSCR 2026 demonstrating that transplanted human neural progenitor cells survived for at least one year following subretinal transplantation in patients with retinitis pigmentosa (RP), while maintaining a favorable safety profile.

9 Jul 2026

Phelan-McDermid syndrome may be more common than previously believed

New research, led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai and published June 28 in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects approximately 1 in 7,300 people, making it dramatically more common than previous estimates suggested.

9 Jul 2026

New form of hereditary prostate cancer can cause aggressive disease at a young age

Researchers at the University of British Columbia have identified a new form of hereditary prostate cancer that, while rare, can cause aggressive disease at a young age.

9 Jul 2026

Weill Cornell Medicine receives federal grant to study new gene therapy for Alzheimer's disease

The National Institute on Aging of the National Institutes of Health has awarded a five-year grant initially worth $8.37 million for Weill Cornell Medicine researchers to study a new gene therapy for Alzheimer's disease in people who have a high genetic risk of developing the condition.

8 Jul 2026

New guideline published for diagnosing and treating Allan-Herndon-Dudley syndrome

An international team has published a new guideline for diagnosing and treating the rare genetic disease. It serves as a tool for everyone who treats and cares for patients affected by it.

8 Jul 2026

New molecular mechanism identified in common inherited heart disease

A study led by the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), working in collaboration with an international research team, has identified a new molecular mechanism involved in hypertrophic cardiomyopathy, the most common inherited cardiovascular disease.

7 Jul 2026

Countable Labs and Promega announce co-marketing agreement to facilitate end-to end biological sample preparation and rare variant detection

Countable Labs, the developer of Countable PCR, a breakthrough single-molecule PCR technology redefining how science measures biology, announced a co-marketing agreement with Promega, a leader in providing innovative solutions and technical support to the life sciences industry.

From Promega Corporation 7 Jul 2026

Study provides new insights into biological processes linked to Huntington’s disease

A study conducted by the Sant Pau Research Institute (IR Sant Pau) and Hospital de Sant Pau has identified for the first time in living individuals a brain pattern related to the tau protein that changes according to the stage of Huntington's disease.

6 Jul 2026

Targeted therapy shows promise against KRAS-driven metastatic pancreatic cancer

An investigational targeted therapy designed to block one of the most common genetic drivers of pancreatic cancer has shown promising early results when combined with standard first-line chemotherapy, according to research presented today at the ESMO Gastrointestinal Cancers Congress 2026.

3 Jul 2026

New analysis reveals biological features of treatment-resistant aggressive lymphoma

Researchers led by Universitätsmedizin Frankfurt and Goethe University Frankfurt have identified how particularly aggressive forms of lymphoma can be recognized.

3 Jul 2026

Experimental drug shields nerve cells from damage caused by ALS

Amyotrophic Lateral Sclerosis, or ALS, received widespread awareness in the summer of 2014 thanks to an Ice Bucket Challenge. Millions of people participated in the challenge, drenching themselves in ice cold water to bring visibility to this devastating neurodegenerative disease and generate charitable donations for research.

3 Jul 2026

Tailored drug combinations improve outcomes for treatment-resistant advanced melanoma

A new study led by researchers at The University of Texas MD Anderson Cancer Center has identified a way to tailor drug combinations based on specific tumor biology to improve outcomes for treatment-resistant advanced melanoma.

2 Jul 2026

Evolutionary noncoding RNAs reveal new targets for cancer therapy

In cancer research, one person's junk is increasingly becoming another person's treasure. Scientists have now uncovered new evidence showing how recently evolved "junk DNA" genetic elements can become integrated into ancient cellular pathways that regulate cancer.

1 Jul 2026

Engineered CAR T cells show promise against myeloproliferative neoplasms

A new form of CAR T cell therapy has been designed to find and destroy the cancer-driving stem cells responsible for a group of blood cancers known as myeloproliferative neoplasms (MPNs), while leaving healthy blood cells unharmed, in new research led by UCL and University of Oxford researchers.

1 Jul 2026

UC San Diego study reveals genetic causes of rare neuromuscular disorders

Scientists at the University of California San Diego have uncovered how genetic mutations cause a rare group of inherited neuromuscular disorders and identified promising new strategies to correct them, including a potential new use for an existing antidepressant.

1 Jul 2026

Highly-sensitive blood test detects hidden traces of pancreatic cancer

Northwestern Medicine scientists have demonstrated that a highly sensitive blood test can detect traces of pancreatic cancer missed by standard testing, potentially helping physicians identify patients whose disease is more likely to return even when scans appear reassuring.

30 Jun 2026

Japanese study links inherited genetic variants to multiple lung cancers

Lung cancer remains the leading cause of cancer-related deaths worldwide and is generally thought to arise from mutations acquired over a lifetime through environmental exposures.

30 Jun 2026

New diagnostic tool bypasses blood-brain barrier to detect autism early

A study published in NeuroMarkers showed that a nanosensor can measure nitric oxide (NO) from patient-derived stem cells to distinguish autism spectrum disorder (ASD) from intellectual disability (ID), even when both conditions share the exact same genetic mutation.

30 Jun 2026

Genetic research links KDF1 mutation to impaired dental epithelial organization

Dental enamel is the hardest substance in the human body, protecting teeth from wear, temperature changes, and decay. However, enamel cannot regenerate once damaged. Inherited disorders, such as amelogenesis imperfecta, disrupt enamel formation during development, leaving affected individuals with fragile, discolored, and decay-prone teeth.

30 Jun 2026

Mutation News and Research

Structural study identifies unexpected cancer-regulating functions of MLL4 protein

Transplanted neural progenitor cells survive one year in patients with retinitis pigmentosa

Phelan-McDermid syndrome may be more common than previously believed

New form of hereditary prostate cancer can cause aggressive disease at a young age

Weill Cornell Medicine receives federal grant to study new gene therapy for Alzheimer's disease

New guideline published for diagnosing and treating Allan-Herndon-Dudley syndrome

New molecular mechanism identified in common inherited heart disease

Countable Labs and Promega announce co-marketing agreement to facilitate end-to end biological sample preparation and rare variant detection

Study provides new insights into biological processes linked to Huntington’s disease

Targeted therapy shows promise against KRAS-driven metastatic pancreatic cancer

New analysis reveals biological features of treatment-resistant aggressive lymphoma

Experimental drug shields nerve cells from damage caused by ALS

Tailored drug combinations improve outcomes for treatment-resistant advanced melanoma

Evolutionary noncoding RNAs reveal new targets for cancer therapy

Engineered CAR T cells show promise against myeloproliferative neoplasms

UC San Diego study reveals genetic causes of rare neuromuscular disorders

Highly-sensitive blood test detects hidden traces of pancreatic cancer

Japanese study links inherited genetic variants to multiple lung cancers

New diagnostic tool bypasses blood-brain barrier to detect autism early

Genetic research links KDF1 mutation to impaired dental epithelial organization

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Bringing real-time analytics to downstream bioprocess monitoring

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