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Newly discovered nanobody may lead to a treatment for Retinitis Pigmentosa

A team of scientists from the University of California, Irvine, believe they have discovered a special antibody which may lead to a treatment for Retinitis Pigmentosa, a condition that causes loss of central vision, as well as night and color vision.

7 Sep 2023

Yourgene Health launches MagBench Automated DNA Extraction Instrument and Kit for NIPT workflows

Yourgene Health plc (“Yourgene”), a leading international molecular diagnostics group, today launched the Yourgene® MagBench™ Automated DNA Extraction Instrument and Kit. MagBench solution is available to Sage™ customers across Asia-Pacific and the Middle East.

From Yourgene Health 5 Sep 2023

Higher educational attainment may have a protective effect against Alzheimer's in people with genetic risk

A new study by researchers from Mass General Brigham further illustrates that when it comes to risk of Alzheimer's disease, even genetically determined forms of the disease, genetics is only one piece of the puzzle.

30 Aug 2023

UQ-led clinical trial to test the effectiveness of diabetes drug for polycystic kidney disease

Patient recruitment is underway for a University of Queensland-led clinical trial to test the effectiveness of a diabetes drug to slow the progression of polycystic kidney disease (PKD).

30 Aug 2023

New ESC Guidelines on cardiomyopathies published online today

The European Society of Cardiology (ESC) Guidelines on cardiomyopathies are published online today in European Heart Journal.

25 Aug 2023

Sleep dysfunction is underreported and underrecognized in Huntington's disease

A good night's sleep is essential for everyone. In individuals with Huntington’s disease (HD), sleep disturbances constitute an additional burden that may exacerbate disease outcomes and impact patients’ quality of life.

21 Aug 2023

Copy number profiling provides insight as to why prostate cancer may become lethal

Researchers performed genome-wide copy number profiling of the androgen receptor (AR) on metastases from deceased prostate cancer patients.

16 Aug 2023

Study detects biomarker changes nearly 30 years before symptom onset of Alzheimer’s disease

A new paper has shown how Alzheimer’s disease pathology comes into being over a period of almost three decades.

10 Aug 2023

Genome editing in the spotlight: genetic disorder carriers' views shape the conversation

Study explores perspectives on the applications of somatic genome editing.

8 Aug 2023

The genetics of resting heart rate and its connection to cardiovascular disorders

Researchers investigated the genetics behind resting heart rate and its impact on cardiovascular disease.

7 Aug 2023

Diagnosis of rare inherited metabolic condition in a Sumatran orangutan

Researchers from Indiana University School of Medicine have diagnosed a Sumatran Orangutan at the Indianapolis Zoo with a rare genetic disease called Alkaptonuria.

27 Jul 2023

Study identifies specific genetic variants that affect the skeletal form and ties a major evolutionary facet of human anatomical change to pathogenesis

Researchers evaluate imaging information and characterize skeletal proportions to assess the genetic root of these traits and their connections to each other.

26 Jul 2023

SPG-15: A Mother's Fight for a Gene Therapy Cure, Maddi's Story

News Medical spoke to the CEO and founder of the Maddi Foundation to gain a patient perspective on how important research in gene therapy is.

3 Jul 2023

Research sheds light on genetic variants' impact beyond autism diagnosis

Scientists conducted the largest meta-analysis to elucidate the phenotypes of ASD-diagnosed individuals .

30 Jun 2023

Multi-ethnic genome study unlocks new genetic links to health conditions

Research explores the genetic architecture of circulating metabolites, uncovering novel variant-metabolite associations and validating previous findings. It provides insights into the genetic contribution to metabolite levels and potential implications for human disease.

31 May 2023

Study provides data to support gene supplementation as a treatment for autosomal dominant retinitis pigmentosa

A new study shows that total RPE65 protein levels in mice with autosomal dominant retinitis pigmentosa were doubled following subretinal delivery of adeno-associated virus (AAV)-RPE65 gene supplementation.

23 May 2023

Newly identified genetic variant provides protection from Alzheimer's disease

A single patient can spark new research questions and provide answers about a disease. And when a new case is identified, investigators can make connections between them that can lead to even more powerful and persuasive ideas about cause and treatment.

15 May 2023

Research provides new insights into the underlying disease mechanisms for polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially lethal genetic disease-;about a half million people in the United States alone suffer from the condition.

4 Apr 2023

Beethoven's cause of death revealed through DNA analysis of his hair

In a recent article published in the journal Current Biology, an international team of researchers sequenced the whole genome to high coverage from eight authenticated hair strands from Ludwig van Beethoven, one of the most influential European classical music composers born in 1770. He died on March 27, 1827.

27 Mar 2023

Review explores trehalose's effects on metabolism and gut microflora

researchers review the bioactive properties of trehalose and its potential pharmaceutical, medical, cosmetic, and food-related applications.

20 Mar 2023