PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

$14M NIH grant funds gene-editing research for rare metabolic diseases at Penn and CHOP

Researchers aim to develop personalized therapies for urea cycle disorders and other genetic conditions using advanced CRISPR technology

2024-10-10
(Press-News.org) PHILADELPHIA— A $14M grant will fund research on gene-editing therapies for rare metabolic diseases at the Perelman School of Medicine at the University of Pennsylvania (Penn) and Children’s Hospital of Philadelphia (CHOP). The research will focus specifically on developing therapies for urea cycle disorders, which impact roughly 1 in every 35,000 children. Using a form of CRISPR technology, the ultimate vision of the four-year grant is to create a platform for rapid development of personalized gene-editing therapies for a wide range of rare genetic disorders.

The grant, funded by the National Institutes of Health through its Somatic Cell Genome Editing Program (SCGE), will support research to further advance prime editing, a new and more versatile form of CRISPR technology. Unlike previous gene-editing methods, prime editing allows precise changes to the genome, correcting any genetic mutation rather than just swapping out individual chemical bases of DNA. This technology holds the promise of personalized treatments for patients with rare metabolic diseases such as type I citrullinemia, ASA lyase deficiency, and CPS1 deficiency. These life-threatening conditions, characterized by the body's inability to fully break down proteins, often lead to toxic ammonia buildup, causing brain damage, coma, or even death if untreated.

Despite previous attempts to treat these diseases through gene therapy, success has been limited due to immune responses to current therapies. Prime editing could change this by enabling permanent genetic corrections. “With this technology, we hope to not just manage symptoms, but offer a durable, potentially lifelong cure for these children,” said Kiran Musunuru, MD, PhD, a professor of Cardiovascular Medicine and Director of Penn Cardiovascular Institute's Genetic and Epigenetic Origins of Disease Program.

“We’re not just focusing on one specific disease,” said Rebecca Ahrens-Nicklas, MD, PhD, an attending physician with the Metabolic Disease Program and the Division of Human Genetics at CHOP. “We’re focusing on the patient in front of us, whatever variant they have. This approach enables us to treat a wider array of patients who’ve previously had no options.”

The SCGE program is designed to address diseases caused by genetic changes. During its first phase (2018-2023), the program developed tools to perform genome editing in somatic cells which are non-reproductive cells in the body. Now in its second phase, SCGE seeks to bring genome-editing therapies from the lab to the clinic.

The team, which has previously received funding from the SCGE, aims to begin clinical trials within the next four years, marking an exciting new chapter in the field of precision medicine.

###

Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System and Penn’s Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation’s first medical school.

The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $550 million awarded in the 2022 fiscal year. Home to a proud history of “firsts” in medicine, Penn Medicine teams have pioneered discoveries and innovations that have shaped modern medicine, including recent breakthroughs such as CAR T cell therapy for cancer and the mRNA technology used in COVID-19 vaccines.

The University of Pennsylvania Health System’s patient care facilities stretch from the Susquehanna River in Pennsylvania to the New Jersey shore. These include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Lancaster General Health, Penn Medicine Princeton Health, and Pennsylvania Hospital—the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.

Penn Medicine is an $11.1 billion enterprise powered by more than 49,000 talented faculty and staff.

***

A non-profit, charitable organization, Children’s Hospital of Philadelphia was founded in 1855 as the nation’s first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, the hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. The institution has a well-established history of providing advanced pediatric care close to home through its CHOP Care Network, which includes more than 50 primary care practices, specialty care and surgical centers, urgent care centers, and community hospital alliances throughout Pennsylvania and New Jersey, as well as the Middleman Family Pavilion and its dedicated pediatric emergency department in King of Prussia. In addition, its unique family-centered care and public service programs have brought Children’s Hospital of Philadelphia recognition as a leading advocate for children and adolescents. For more information, visit https://www.chop.edu. 

END



ELSE PRESS RELEASES FROM THIS DATE:

One experiment: The brain’s landscapers

One experiment: The brain’s landscapers
2024-10-10
Imagine yourself sometime in the far future aboard a routine rocket to Mars. Someone just spilled their drink. Without gravity, it collects in floating blobs that ripple right before your eyes. Now freeze. What you see might look something like the above image from Cold Spring Harbor Laboratory’s (CSHL’s) Cheadle lab. But those purple and green blobs aren’t the floating remains of somebody’s drink. They’re mysterious cells in the brain’s visual cortex called OPCs. The visual cortex processes everything we see. Incoming visual information is ...

AI-supported dermatology: Now for darker skin tones too, thanks to a new data set

2024-10-10
In many countries in Africa, up to nine out of ten children suffer from a skin problem, and there are far too few local dermatologists. Artificial intelligence could help with diagnosis, but needs to be trained with the relevant images, so researchers have created a new data set for dark skin tones. Demand is high, the lack of dermatologists acute: in many countries in Africa, there is less than one dermatology specialist per one million people – compared to the World Health Organization (WHO) recommendation of ...

Understanding how smiling influences relationship building during real-life conversations

Understanding how smiling influences relationship building during real-life conversations
2024-10-10
Smiling during conversations creates warmth, making people feel more comfortable and connected. For example, a friendly smile when meeting someone new can ease nervousness. A smile can soften tension in a debate, showing respect among the participants despite disagreement. In fact, extensive studies have been conducted in the past in an attempt to understand smiling interactions in a natural conversation. Despite these studies, however, little is known about the extent to which one’s smile influences or gets affected by the other person’s smile during a conversation. A new study sought to investigate this by quantifying ...

British Heart Foundation Data Science Centre launches first open challenge to explore AI ECG potential

2024-10-10
The British Heart Foundation (BHF) Data Science Centre, led by Health Data Research UK, is hosting an open challenge which invites competitors to explore the potential of Artificial Intelligence to improve the use of electrocardiogram (ECG) for cardiovascular disease patient care. The challenge has been co-designed with members of public and patients affected by cardiovascular disease. The BHF Data Science Centre is collaborating with experts from the University of Edinburgh to use a synthetic imaging dataset made up of approximately 20,000 simulated electrocardiogram (ECG) images. Competitors will be invited to develop algorithms which can make ...

Heart failure, atrial fibrillation & coronary heart disease linked to cognitive impairment

2024-10-10
Statement Highlights: Previous studies have found that 14-81% of patients with heart failure experience some degree of cognitive impairment affecting language, memory or executive function. Evidence also indicates that people with atrial fibrillation have a 39% increased risk of memory or thinking problems; adults with heart disease have a 27% higher risk of developing dementia; and up to 50% of individuals experience cognitive decline after a heart attack. Managing heart health from an early age is important, not only for preventing heart disease but also for protecting brain health and reducing the risk of cognitive impairment in later life. Embargoed until 4:00 a.m. CT/5:00 ...

To make children better fact-checkers, expose them to more misinformation — with oversight

2024-10-10
In an era when online misinformation is seemingly everywhere and objective facts are often in dispute, UC Berkeley psychologists in a new study have presented a somewhat paradoxical partial solution: Expose young children to more misinformation online — not less.  Doing so in limited circumstances, and with careful oversight and education, can help children gain the tools they'll need to sort fact from fiction online, said Evan Orticio, a Ph.D. student in UC Berkeley’s Department of Psychology and lead author of a paper published today ...

Renowned psychiatrist professor Celso Arango advocates for primary prevention in mental health

Renowned psychiatrist professor Celso Arango advocates for primary prevention in mental health
2024-10-10
In a revealing Genomic Press Interview published in Brain Medicine on October 10, 2024, Professor Celso Arango, a prominent psychiatrist and researcher, outlines his vision for the future of mental health care. Professor Arango, who serves as Director of the Institute of Psychiatry and Mental Health at Hospital General Universitario Gregorio Marañón and Professor of Psychiatry at the Universidad Complutense de Madrid, advocates for a paradigm shift towards primary prevention in psychiatry. Professor Arango's career trajectory, from his early exposure to ...

Ketamine pioneer Dr. Carlos A. Zarate Jr. reshapes depression treatment landscape

Ketamine pioneer Dr. Carlos A. Zarate Jr. reshapes depression treatment landscape
2024-10-10
Bethesda, Maryland - 10 October 2024. In a revealing Genomic Press Interview published on 10 October 2024, Dr. Carlos A. Zarate Jr., NIH Distinguished Investigator and pioneer in rapid-acting antidepressant research, offers a glimpse into the personal motivations and scientific breakthroughs that have defined his career. The interview, part of the journal's Innovators and Ideas series, showcases Dr. Zarate's journey from a young tennis instructor in Argentina to a leading figure in psychiatric research at the National Institute ...

Glowing approach could aid carpal tunnel-related surgery

Glowing approach could aid carpal tunnel-related surgery
2024-10-10
In modern office life, avoiding the onset of carpal tunnel syndrome might be a daily struggle. The worst case could mean needing surgery to alleviate compression of the nerves or to repair damaged nerves. Helping surgeons visually check the areas where neural blood flow has decreased due to chronic nerve compression can lead to improvements in diagnostic accuracy, severity assessments, and outcome predictions. With this in mind, an Osaka Metropolitan University-led research team involving Graduate School of Medicine student Kosuke Saito and Associate Professor Mitsuhiro Okada investigated the use of fluorescein angiography, a method employed in neurosurgery and ophthalmology ...

The hidden costs of free apps – more than personal data

The hidden costs of free apps – more than personal data
2024-10-10
Procrastination, sleep deprivation and reduced focus are part of the price we pay for free mobile apps. This is according to researchers at Linköping University and RISE, who have investigated the costs hidden behind the free apps. Based on their results, they also have some advice for decision-makers.   Most of us are becoming aware that our digital attention is hard currency for companies like Google and Facebook. By analysing our digital behaviour patterns, they can target tailored advertising directly to our feeds. Our attention becomes the product that is sold to advertisers. For example, YouTube’s three billion monthly users generated ...

LAST 30 PRESS RELEASES:

Top five rising star Texas researchers named in 2025 Edith and Peter O’Donnell Awards by TAMEST

Fast, rewritable computing with DNA origami registers

Uncovering the pigments and techniques used to paint the Berlin Wall

MD Anderson’s Lauren Averett Byers receives TAMEST O’Donnell Award for seminal contributions to lung cancer research

Chung-Ang University researchers unveil the biogenesis and role of transfer RNA fragments in cancer progression

Secret of the female orgasm uncovered by psychologists

Breakthrough in zinc-based rechargeable batteries: A safer, sustainable alternative

"Superman" bacteria offer a sustainable boost to chemical production

FunMap reveals a functional network of genes and proteins in human cancer

First full characterization of kidney microbiome unlocks potential to prevent kidney stones

IMDEA Software researchers present MixBuy, a protocol for secure and privacy-preserving digital purchases

Having a good breakfast reduces cardiovascular risk

New study reveals provincial and territorial inequities and inadequacies in access to medications and treatment for cardiovascular conditions in Canada

Pre-seed funding to recolor the world greener

New research unlocks jaw-dropping evolution of lizards and snakes

Cardiorespiratory fitness linked to preservation of cognitive abilities in older age

Around 1 in 5 of the world’s under 50s living with genital herpes (HSV)

Cutting early life exposure to parental smoking may lower MS risk in genetically prone

High-flow nasal oxygen vs noninvasive ventilation in patients with acute respiratory failure

Flexible hibernation could help hedgehogs adapt to environmental changes

What is a unit of nature? New framework shows the challenges involved with establishing a biodiversity credit market

NYCEDC and NYU Tandon launch applications for new digital game design incubator

Soda taxes don’t just affect sales. They help change people’s minds.

Early restrictive vs liberal oxygen for trauma patients

Enabling AI to explain its predictions in plain language

A greener, cleaner way to extract cobalt from ‘junk’ materials

Better environmental performance boosts profits and cuts costs

Making self-driving cars safer, less accident prone

Rethinking the quantum chip

When does waiting stop being worth it?

[Press-News.org] $14M NIH grant funds gene-editing research for rare metabolic diseases at Penn and CHOP
Researchers aim to develop personalized therapies for urea cycle disorders and other genetic conditions using advanced CRISPR technology