�� Feature Channel: Genetics

Puberty Triggers Brain Rewiring in Genetic Condition Tied to Autism

University of California, Los Angeles (UCLA), Health Sciences — Thu, 10 Apr 2025 20:15:49 EST

Changes in brain connectivity before and after puberty may explain why some children with a rare genetic disorder have higher risk of developing autism or schizophrenia, according to a UCLA Health study.

Landmark Study Identifies New Genetic Cause of Neurodevelopmental Disorders, Bringing Long-Awaited Answers to Families

University of Bristol — Thu, 10 Apr 2025 18:35:27 EST

A new genetic cause of neurodevelopmental disorder (NDD) has been uncovered by an international team of researchers.

In tribute to Thomas B. Tomasi Jr., MD, PhD, 1927-2025

Roswell Park Comprehensive Cancer Center — Thu, 10 Apr 2025 17:55:19 EST

Thomas B. Tomasi Jr., MD, PhD, who led Roswell Park as President and CEO from 1986-1996, died March 23, 2025, at age 97. His tenure marked a renaissance at Roswell Park that elevated it to a place among the nation's top cancer centers.

Landmark Study Identifies New Genetic Cause of Neurodevelopmental Disorders, Bringing Long-Awaited Answers to Families

Mount Sinai Health System — Thu, 10 Apr 2025 05:00:00 EST

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been searching for answers. The study, published in the April 10 online issue of Nature Genetics [DOI: 10.1038/s41588-025-02159-5], reveals that mutations in a small, previously overlooked non-coding gene called RNU2-2 are responsible for relatively common NDD. Non-coding genes are genes that don't produce proteins but may still play critical roles in regulating cell functions.

CAR-M Technology: A Novel Approach to Overcome CAR-T Limitations in Solid Tumor Treatment

National Research Council of Science and Technology — Wed, 09 Apr 2025 00:00:53 EST

Researchers at the Korea Research Institute of Chemical Technology (KRICT), led by Dr. Chi Hoon Park, have successfully generated CAR-M (Chimeric Antigen Receptor Macrophages) by stably inserting synthetic genes into human macrophages derived from peripheral blood using a lentiviral delivery system.

Conserved Chromatin Regulators Control the Transcriptional Immune Response to Intracellular Pathogens in Caenorhabditis Elegans

George Washington University — Tue, 08 Apr 2025 11:00:16 EST

In this study, we show that transcriptional regulators, previously linked to development in Caenorhabditis elegans, also control immune responses. Through forward genetic screens, we found that loss of LIN-15B leads to constitutive activation of Intracellular Pathogen Response (IPR) genes. LIN-15B is functionally associated with the DREAM chromatin remodeling complex, and its loss enhances resistance to intracellular pathogens. This immune response depends on the MES-4 histone methyltransferase. We also discovered that other chromatin regulators, including NuRD and SUMOylation factors, similarly repress IPR gene expression, highlighting a new role in immunity for these conserved regulators of development.

Genome Sequencing Finds Answers to Mystery Conditions in the NICCU

Children's Hospital Los Angeles — Tue, 08 Apr 2025 09:15:45 EST

When a critically ill infant is admitted to the Steven & Alexandra Cohen Foundation Newborn and Infant Critical Care Unit (NICCU) at Children's Hospital Los Angeles, it can be for an underlying genetic cause for the baby's symptoms. The hard part is locating the malfunction in the genes involved. To help with this process--and better tailor a baby's treatment--CHLA is now providing genome sequencing for infants who present with complex and rare conditions.

Setback in Gene Therapy for Duchenne Muscular Dystrophy as Immune System Emerges as Key Barrier

University of Portsmouth — Tue, 08 Apr 2025 03:45:15 EST

A new paper, published in Gene Therapy, raises serious concerns about the effectiveness of gene therapy for Duchenne muscular dystrophy (DMD), after the treatment failed to show significant benefit in a large-scale clinical trial.

Test Predicts Which Patients with Prostate Cancer Are Most Likely to Develop Long-Term Side Effects From Radiation Therapy

University of California, Los Angeles (UCLA), Health Sciences — Mon, 07 Apr 2025 11:20:58 EST

The test, called PROSTOX, is the first of its kind to use microRNAs to predict toxicity from cancer therapy. It could help prevent the burden of long-term complications by identifying patients most at risk before treatment even begins.

Novel Genomic Screening Tool Enables Precision Reverse-Engineering of Genetic Programming in Cells

Dana-Farber Cancer Institute — Fri, 04 Apr 2025 18:10:11 EST

Collaborative research led by investigators at Dana-Farber/Boston Children's Cancer and Blood Disorders Center defines a novel approach to understanding how certain proteins called transcription factors determine which genetic programs will drive cell growth and maturation.

Pancreatic Cells 'Remember' Epigenetic Precancerous Marks Without Genetic Sequence Mutations

Johns Hopkins Medicine — Fri, 04 Apr 2025 11:00:31 EST

Johns Hopkins Medicine scientists say they have found a pattern of so-called epigenetic "marks" in a transition state between normal and pancreatic cancer cells in mice, and that the normal cells may keep at least a temporary "memory" of those cancer-linked marks.

Solving Medicine's Most Elusive Mysteries

Harvard Medical School — Thu, 03 Apr 2025 20:50:07 EST

For years, an unnamed disease slowly stole one man's sight--until his son's diagnosis finally provided the answer. Their journey highlights how rare disease research can unravel medicine's most elusive mysteries and, in doing so, can help reshape the future of medicine.

New Guidelines Aim to Improve Cystic Fibrosis Screening

University of Washington School of Medicine — Thu, 03 Apr 2025 18:05:30 EST

All states should adopt updated screening protocols so more newborns with cystic fibrosis can be diagnosed in the first weeks of life, when interventions can have the greatest benefit, according to the Cystic Fibrosis Foundation guidelines published April 2 in the International Journal of Neonatal Screening.

Multi-Center Study Uncovers Genetic Underpinnings of Congenital Diarrhea and Enteropathies

University of California, Los Angeles (UCLA), Health Sciences — Thu, 03 Apr 2025 09:10:53 EST

A new multi-center study co-led by scientists from UCLA Health has uncovered critical genetic insights into a group of rare disorders affecting intestinal epithelial cell function, paving the way for targeted therapies that could significantly improve patient outcomes.

First Guideline on Newborn Screening for Cystic Fibrosis Calls for Changes in Practice to Improve Outcomes

Ann and Robert H. Lurie Children's Hospital of Chicago — Wed, 02 Apr 2025 18:00:24 EST

CF is a genetic disorder that causes problems with digestion and breathing. Currently, newborns in every state are screened for CF. However, great variation in practice and the genetic panels used con...

Texas Bills Will Increase Access to Genetic Testing and Breast Imaging

Susan G. Komen — Tue, 01 Apr 2025 20:50:07 EST

Susan G. Komen(r), the world's leading breast cancer organization, commends Senators Tan Parker (R-Flower Mound) and Carol Alvarado (D-Houston) for introducing legislation that would eliminate financial barriers to clinically appropriate genetic testing and supplemental breast imaging. In Texas, more than 23,880 people will be diagnosed with breast cancer and more than 3,330 are expected to die of the disease in 2025 alone.

Curious by Nature: Dr. Connie Mulligan - Epigenetics and the Lasting Impact of Trauma

�� — Sat, 29 Mar 2025 08:00:38 EST

We know that stress affects our mental and physical health, but groundbreaking research shows its impact goes even deeper, down to the genetic level. Dr. Connie Mulligan, a renowned genetics expert from the University of Florida, explains how chronic stress and traumatic experiences can leave lasting marks on your DNA through a process known as epigenetics.

Three Wayne State University Professors elected as AAAS Fellows

Wayne State University Division of Research — Thu, 27 Mar 2025 18:40:17 EST

Wayne State University is proud to announce that three professors have been elected as fellows of the American Association for the Advancement of Science (AAAS).

New Study Offers Reassurance for Patients with Some Cancer-Linked Genes

Michigan Medicine - University of Michigan — Thu, 27 Mar 2025 18:25:18 EST

As more people receive genetic testing after a cancer diagnosis, newer variants have been identified that increase risk of developing cancer. A new study led by the University of Michigan Rogel Cancer Center finds that patients with three of these variants face no extra risk of dying from their cancer.

Researchers Identifying Causes of Rare Neurological Conditions in Children Receive GBP1.1M in Funding

University of Portsmouth — Thu, 27 Mar 2025 09:05:35 EST

Scientists have been given a GBP1.1m grant by the UKRI Medical Research Council (MRC) to continue their life-changing research, after identifying a new disease which causes some children's brains to develop abnormally.

�������� Feature Channel: Genetics

Puberty Triggers Brain Rewiring in Genetic Condition Tied to Autism

Landmark Study Identifies New Genetic Cause of Neurodevelopmental Disorders, Bringing Long-Awaited Answers to Families

In tribute to Thomas B. Tomasi Jr., MD, PhD, 1927-2025

Landmark Study Identifies New Genetic Cause of Neurodevelopmental Disorders, Bringing Long-Awaited Answers to Families

CAR-M Technology: A Novel Approach to Overcome CAR-T Limitations in Solid Tumor Treatment

Conserved Chromatin Regulators Control the Transcriptional Immune Response to Intracellular Pathogens in Caenorhabditis Elegans

Genome Sequencing Finds Answers to Mystery Conditions in the NICCU

Setback in Gene Therapy for Duchenne Muscular Dystrophy as Immune System Emerges as Key Barrier

Test Predicts Which Patients with Prostate Cancer Are Most Likely to Develop Long-Term Side Effects From Radiation Therapy

Novel Genomic Screening Tool Enables Precision Reverse-Engineering of Genetic Programming in Cells

Pancreatic Cells 'Remember' Epigenetic Precancerous Marks Without Genetic Sequence Mutations

Solving Medicine's Most Elusive Mysteries

New Guidelines Aim to Improve Cystic Fibrosis Screening

Multi-Center Study Uncovers Genetic Underpinnings of Congenital Diarrhea and Enteropathies

First Guideline on Newborn Screening for Cystic Fibrosis Calls for Changes in Practice to Improve Outcomes

Texas Bills Will Increase Access to Genetic Testing and Breast Imaging

Curious by Nature: Dr. Connie Mulligan - Epigenetics and the Lasting Impact of Trauma

Three Wayne State University Professors elected as AAAS Fellows

New Study Offers Reassurance for Patients with Some Cancer-Linked Genes

Researchers Identifying Causes of Rare Neurological Conditions in Children Receive GBP1.1M in Funding

�� Feature Channel: Genetics