Healthline

What Is Autosomal DNA and What Can Yours Tell You?

Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed down from parents through combinations of their 46 chromosomes. X and Y, the two most popularly known ...
MedPage Today

Autosomal Dominant Polycystic Kidney Disease

The approach should be individualized to each patient, says Dr. David Charytan of the NYU Grossman School of Medicine. Here's why. (3:28) Before receiving a kidney transplant, patients with autosomal ...
Nature

Identification of an autosomal dominant locus for intracranial aneurysm through a model-based family collection in a geographically limited area

Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its ...
MedPage Today

In Autosomal Dominant Polycystic Kidney Disease, Using Exome Sequencing to Aid Diagnosis

"Groups such as the American College of Medical Genetics and Genomics can use this study to help determine whether PKD1 and PKD2 should be considered in future recommendations for reporting of ...
News Medical

Managing autosomal dominant polycystic kidney disease: an interview with Dr Richard Sandford, University of Cambridge

Please can you give a brief introduction to autosomal dominant polycystic kidney disease (ADPKD)? Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited kidney ...
The New England Journal of Medicine

Efficacy and Safety of Encaleret in Autosomal Dominant Hypocalcemia Type 1

Encaleret corrected hypocalcemia and reduced hypercalciuria during the inpatient periods and the 24-week outpatient period. Mean blood levels of intact PTH, magnesium, and 1,25-dihydroxyvitamin D ...
Nature

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

We identified a large multigenerational white British family with a predominant phenotype of infantile nystagmus and presenile cataract segregating in an autosomal-dominant pattern. In this study, we ...
Medical Xpress

Gene inheritance patterns influence age of diagnosis in BRCA families

Women who inherit the cancer genes BRCA1 or BRCA2 from their paternal lineage may get a diagnosis a decade earlier than those women who carry the cancer genes from their mother and her ancestors, ...
News Medical

Retinitis Pigmentosa Genetics

Retinitis pigmentosa is one of the commonest forms of inherited retina degenerative blindness worldwide. With the advent of molecular technologies it has become easier to identify the genetic defects ...
EurekAlert!

Research reveals novel CARS E795V mutation as cause of inherited Parkinson's disease

According to Science Alert, neuroscientists from Johns Hopkins University have recently discovered a new treatment for Parkinson's disease using an FDA-approved cancer drug. A recent study published ...
WebMD

Jynarque for Autosomal Dominant Polycystic Kidney Disease (ADPKD)

People with autosomal dominant polycystic kidney disease (ADPKD) are at a high risk of developing kidney failure during their lives. Although there are many strategies that can be used to help reduce ...