Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Study uncovers how effects of HSP90 protein can alter course of genetic diseases

Proteins do most of the work inside the human body, supporting the structure, function, regulation, and repair of organs, tissues and cells.

24 Feb 2017

Scientists propose potential new treatment for Gaucher disease

Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.

23 Feb 2017

Targeting RNA repeats

RNA repeats are stretches of code in the body that incrementally repeat. For example, in the most common cause of adult-on-set muscular dystrophy a RNA has a repeat of r(CUG) and this three letter code can repeat thousands of times.

20 Feb 2017

Upstate opens new public cord blood bank in New York

Upstate Medical University opens the Upstate Cord Blood Bank, only the second public cord blood bank in New York and one of only 32 in the US.

20 Feb 2017

Canadian researchers use gene therapy to treat patient with Fabry disease

A team of Canadian physicians and researchers is believed to be the first in the world to have used gene therapy to treat a patient with Fabry disease, a rare inherited enzyme deficiency that can damage major organs and shorten lifespan.

16 Feb 2017

UNIGE researchers develop new technique to improve diagnosis of genetic diseases

When a child is conceived, he or she receives DNA from both parents. The child's own genome thus consists of a maternal and a paternal genome. However, some genes — about 100 out of the 20,000 encoded genes— are exclusively expressed either from the maternal or from the paternal genome, with the other copy of the gene remaining silent.

16 Feb 2017

Salk scientists use mRNA to successfully treat hemophilia B in mice

FedEx, UPS, DHL--when it comes to sending packages, choices abound. But the most important delivery service you may not have heard of mRNA.

16 Feb 2017

FDA approves new treatment for wide range of patients with Duchenne muscular dystrophy

The U.S. Food and Drug Administration today approved Emflaza (deflazacort) tablets and oral suspension to treat patients age 5 years and older with Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes progressive muscle deterioration and weakness.

9 Feb 2017

Scientists identify gene variants that predispose children to developing Kawasaki disease

Kawasaki disease (KD) is the most common acquired heart disease in children. Untreated, roughly one-quarter of children with KD develop coronary artery aneurysms -- balloon-like bulges of heart vessels -- that may ultimately result in heart attacks, congestive heart failure or sudden death.

9 Feb 2017

Study suggests new ways to treat neurological symptoms linked to tuberous sclerosis complex

Boston Children's Hospital researchers have uncovered a new molecular pathway that inhibits the myelination of neurons in the brains of patients with the rare genetic disorder tuberous sclerosis complex.

9 Feb 2017

NIH researchers identify genes that may predict how melanoma spreads

Cancerous tumors are voracious. Once they have consumed all the oxygen and nutrients in the original tumor site, the cancer cells travel to other parts of the body (metastasize) to find more nourishment.

8 Feb 2017

Studies open new windows into understanding untreatable group of common genetic disorders

Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial features, developmental delays, cognitive impairment and heart problems.

7 Feb 2017

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Research led by scientists at UC San Francisco and Case Western Reserve University School of Medicine has used brain "organoids" — tiny 3D models of human organs that scientists grow in a dish to study disease — to identify root causes of Miller-Dieker Syndrome (MDS), a rare genetic disorder that causes fatal brain malformations.

7 Feb 2017

Belgian scientists discover key role of Taok3 protein in triggering splenic B cell differentiation

Belgian scientists have discovered the key role of protein Taok3 in the development of type B immune cells known as MZB cells, which are responsible for making antibodies to fight diseases.

3 Feb 2017

Experts update cystic fibrosis guidelines for better diagnosis and personalized treatment

An international research group of 32 experts from nine countries has updated the guidelines for diagnosing the genetic disease cystic fibrosis.

31 Jan 2017

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by investigators at the Icahn School of Medicine at Mount Sinai.

30 Jan 2017

Genetic Disorder News and Research

Further Reading

Study uncovers how effects of HSP90 protein can alter course of genetic diseases

Scientists propose potential new treatment for Gaucher disease

Targeting RNA repeats

Upstate opens new public cord blood bank in New York

Canadian researchers use gene therapy to treat patient with Fabry disease

UNIGE researchers develop new technique to improve diagnosis of genetic diseases

Salk scientists use mRNA to successfully treat hemophilia B in mice

FDA approves new treatment for wide range of patients with Duchenne muscular dystrophy

Scientists identify gene variants that predispose children to developing Kawasaki disease

Study suggests new ways to treat neurological symptoms linked to tuberous sclerosis complex

NIH researchers identify genes that may predict how melanoma spreads

Studies open new windows into understanding untreatable group of common genetic disorders

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Belgian scientists discover key role of Taok3 protein in triggering splenic B cell differentiation

Experts update cystic fibrosis guidelines for better diagnosis and personalized treatment

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

ACMG issues new Points to Consider statement on potential clinical application of genome editing

Joslin scientists suggest new approach to improve stroke therapy

Scientists aim to understand how mitochondrial defects lead to pathological states

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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