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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

Individuals with autosomal and X-linked recessive deficiency of IRAK-4 and MyD88 are more susceptible to developing hypoxemic COVID-19 pneumonia

Researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 receptor-associated kinase 4 (IRAK-4) due to an autosomal recessive condition were highly susceptible to developing hypoxemic coronavirus disease 2019 (COVID-19) pneumonia when infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

9 Mar 2023

Safety of a gene therapy to treat alpha 1-antitrypsin deficiency

Researchers report on the safety of a gene therapy to treat the common autosomal recessive hereditary disorder alpha 1-antitrypsin (AAT) deficiency in a new article in the peer-reviewed journal Human Gene Therapy.

22 Feb 2023

First successful correction of limb length in mouse model of autosomal dominant Robinow Syndrome

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system.

15 Feb 2023

New research may explain why some patients suffer from long-COVID

A review article published in The Journal of Clinical Investigation deciphers the relationship between rare inborn errors of type I interferon immunity and the development of severe coronavirus disease 2019 (COVID-19) pneumonia.

6 Feb 2023

Genetic disorder that causes immunodeficiency and susceptibility to opportunistic infections discovered

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including a life-threatening fungal pneumonia.

23 Jan 2023

Researchers investigate Scandinavian history across 2,000 years

Researchers investigated the history of Scandinavia from the Roman period (between 1.0 CE and 400.0 CE) to the present, spanning over 2,000 years.

10 Jan 2023