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3SBio purchases entire equity interest in Zhejiang Wansheng

3SBio Inc., a leading China-based biotechnology company focused on researching, developing, manufacturing and marketing biopharmaceutical products, today announced that it has acquired the entire equity interest in Zhejiang Wansheng Pharmaceutical Co., Ltd a limited liability company incorporated in the PRC for an aggregate consideration of RMB 528 million.

24 Jul 2015

Study discovers potential link between inherited genome-wide DNA sequences and CAD

A study to examine recessively inherited genome-wide DNA sequences has for the first time discovered a potential link with Britain's biggest killer - Coronary Artery Disease (CAD).

10 Jul 2015

More support for amyloidosis as earliest AD biomarker

A longitudinal study of people with autosomal dominant Alzheimer’s disease shows that β-amyloid deposition begins well before neurodegeneration and cognitive decline.

2 Jul 2015

Scientific collaboration pinpoints genetic cause of rare form of blindness in newborn babies

A scientific collaboration, involving the Manchester Centre for Genomic Medicine at Saint Mary's Hospital, UK, and the Telethon Institute of Genetics and Medicine in Naples, Italy, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies.

24 Jun 2015

Non-invasive prenatal testing for Down's syndrome acceptable to parents

Non-invasive prenatal testing (NIPT) for Down's syndrome is feasible, acceptable to parents, and could be introduced into the National Health Service, UK researchers say. The results of a National Institute for Health Research study carried out by the first NHS laboratory to provide NIPT testing will be reported to the annual conference of the European Society of Human Genetics today (Saturday).

8 Jun 2015

Alnylam files clinical trial application for alpha-1 liver disease, presents data at DDW

Alnylam Pharmaceuticals, Inc. has announced that it has filed a Clinical Trial Application (CTA) with the U.K. Medicines and Healthcare products Regulatory Agency (MHRA) to initiate a Phase 1/2 clinical trial with ALN-AAT, a subcutaneously administered investigational RNAi therapeutic targeting alpha-1 antitrypsin (AAT) for the treatment of AAT deficiency-associated liver disease (alpha-1 liver disease).

19 May 2015

UC Davis researchers settle long-standing controversy surrounding Canavan disease

UC Davis investigators have settled a long-standing controversy surrounding the molecular basis of an inherited disorder that historically affected Ashkenazi Jews from Eastern Europe but now also arises in other populations of Semitic descent, particularly families from Saudi Arabia.

28 Apr 2015

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

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited kidney diseases. It's also one of the most common reasons that people require dialysis or transplantation...

13 Apr 2015

EMA's CHMP backs JINARC (tolvaptan) for autosomal dominant polycystic kidney disease

Otsuka Pharmaceutical Co., Ltd. announced today that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency has recommended JINARC (tolvaptan) for approval.

3 Mar 2015

23andMe granted FDA approval to market direct-to-consumer genetic test under novel device classification

23andMe, Inc., the leading personal genetics company, today announced that it has been granted authority by the U.S. Food and Drug Administration (FDA) to market the first direct-to-consumer genetic test under a regulatory classification for novel devices.

20 Feb 2015

Hutchinson-Gilford Progeria Syndrome can be compared to normal aging, say scientists

In a new research study, scientists from Vision Genomics, LLC, Insilico Medicine, Inc., and Howard University showed that Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria) is comparable to normal aging with respect to cellular signaling pathways, and that HGPS truly recapitulates the normal aging process.

28 Jan 2015

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

An international group co-led by University of Alabama at Birmingham researcher Mary MacDougall, Ph.D., has unraveled the molecular basis for the rare, inherited genetic disorder, Singleton-Merten Syndrome (SMS). Individuals with SMS develop extreme, life-threatening calcification of the aorta and heart valves, early-onset periodontitis and root resorption of the teeth, decreases in bone density, and loss of bone tissue at the tips of fingers and toes.

23 Jan 2015

Researchers uncover new gene tied to incurable eye disorder

An exhaustive hereditary analysis of a large Louisiana family with vision issues has uncovered a new gene tied to an incurable eye disorder called retinitis pigmentosa, according to an examination led by scientists at The University of Texas Health Science Center at Houston.

16 Jan 2015

Two UTHealth professors selected as AAAS Fellows for their efforts to prevent blindness

Two professors in the School of Public Health at The University of Texas Health Science Center at Houston - Stephen Daiger, Ph.D., and Robert Hardy, Ph.D. - have been elected to the rank of Fellow in the American Association for the Advancement of Science for their efforts to prevent blindness.

14 Jan 2015

Progression to combined pituitary hormone deficiency common in IGHD

Researchers have found that a high proportion of children initially diagnosed with isolated growth hormone deficiency will progress to combined pituitary hormone deficiency.

22 Dec 2014

Chemical chaperone: A new therapeutic option for epilepsy

Researchers found out that the conformational defect in a specific protein causes Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) which is a form of familial epilepsy. They showed that treatment with chemical corrector called "chemical chaperone" ameliorates increased seizure susceptibility in a mouse model of human epilepsy by correcting the conformational defect.

10 Dec 2014

NIH study finds limited kidney benefit from more rigorous blood pressure treatment

Using two drugs was no more effective than a single drug in slowing disease progression in people with autosomal dominant polycystic kidney disease (ADPKD), according to two studies funded by the National Institutes of Health. One of the studies also showed that rigorous blood pressure treatment slowed growth of kidney cysts, a marker of ADPKD, but had little effect on kidney function compared to standard blood pressure treatment.

17 Nov 2014

Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

20 Oct 2014

New mutations in cat genome identified as causes of human eye diseases

Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative today announced groundbreaking discoveries of novel mutations in the cat genome found to correlate to two human eye diseases, retinitis pigmentosa and Leber's Congenital Amaurosis.

16 Oct 2014

BloodCenter's Erythroid Chimerism test available to monitor transplanted SCD patients

BloodCenter of Wisconsin's Diagnostic Laboratories today announced the availability of an innovative Erythroid Chimerism test to monitor erythroid lineage chimerism in patients with sickle cell disease (SCD) following allogeneic bone marrow transplantation.

28 Aug 2014