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.

$27 million received to speed new treatments for disabling neurological disorder

The Johns Hopkins University School of Medicine has announced receipt of a five-year, $27 million gift earmarked to fast-track the development of therapies to treat tumors associated with neurofibromatosis type 1 (NF1), a common and often debilitating neurogenetic disorder that causes tumors called plexiform neurofibromas to grow on nerves anywhere in the body.

11 Jun 2012

Researchers identify new mitochondrial protein complex linked with type 2 diabetes

Researchers at Metabolic Solutions Development Company, LLC (MSDC) have identified a mitochondrial protein complex through which anti-diabetic drugs exert their insulin sensitizing effects when used to treat patients diagnosed with type 2 diabetes.

11 Jun 2012

CDI introduces MyCell Services

Cellular Dynamics International, Inc. (CDI), the world's largest commercial producer of human induced pluripotent stem (iPS) cell lines and tissue cells, today announced the launch of its MyCell Services.

7 Jun 2012

Study describes how seizures in people with AS could be linked to brain cell activity imbalance

New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder.

7 Jun 2012

Innovative strategy for regenerating skeletal muscle tissue

An innovative strategy for regenerating skeletal muscle tissue using cells derived from the amniotic fluid is outlined in new research published by scientists at the UCL Institute of Child Health.

2 Jun 2012

Kindstar, Insight Genetics collaborate to improve cancer care in China

Molecular diagnostics company Insight Genetics and Kindstar Globalgene Technology, Inc., China's leading diagnostics company, today announced that the companies are partnering to enhance cancer care in the People's Republic of China and surrounding regions.

1 Jun 2012

Omixon Target, a next generation sequencing analysis software for targeted sequencing, released by Omixon

Today Omixon – a genomic software company - announced the commercial release of Omixon Target, a next generation sequencing analysis software for targeted sequencing. Omixon built its new software Target with the vision of helping diagnostic labs to adopt next generation sequencing to replace and complement traditional capillary Sanger sequencing.

30 May 2012

Researchers uncover insights into rare genetic disorders

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called cohesinopathies.

30 May 2012

Use of transplanted induced pluripotent stem cells could lead to new treatments for HD

Researchers from South Korea, Sweden, and the United States have collaborated on a project to restore neuron function to parts of the brain damaged by Huntington's disease (HD) by successfully transplanting HD-induced pluripotent stem cells into animal models.

30 May 2012

European CHMP issues positive opinion to Vertex's KALYDECO for treatment of CF

Vertex Pharmaceuticals Incorporated announced today that the European Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion by consensus recommending the approval of KALYDECO (ivacaftor) for people with cystic fibrosis (CF) ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

25 May 2012

New method developed to synthesise a set of potential glycosidase inhibitors

In many biological and pathological processes, glycosidase enzymes attack glycosidic bonds in carbohydrates, glycoproteins, and glycolipids. The ability to modify or block these processes by specific glycosidase inhibitors forms the basis for their potential use in the treatment of viral infections, cancer, and genetic disorders.

24 May 2012

Regenerative medicine researchers explore innovative ways to treat childhood conditions

About 3 percent of the babies born in the United States have a birth defect. Children without a birth defect are also susceptible to injury or disease. At The University of Texas Health Science Center at Houston (UTHealth), regenerative medicine researchers are exploring innovative ways to treat these conditions.

21 May 2012

Prenatal Diagnosis publishes Sequenom CMM’s MaterniT21 PLUS LDT clinical study

Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions, today announced that a new publication from the large Women & Infants multi-center clinical study on the Sequenom Center for Molecular Medicine's (Sequenom CMM) MaterniT21 PLUS laboratory-developed test (LDT) has been published online in the peer-reviewed journal, Prenatal Diagnosis.

19 May 2012

New clues in the pathogenesis of skull and skin birth defects associated with BSS

Researchers at Mount Sinai School of Medicine in New York have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome.

16 May 2012

Vejthani Hospital offers most effective procedure in gender selection

Vejthani Hospital Bangkok recommends a gender selection procedure for a couple who desire to choose a child's gender at Vejthani ART Center.

16 May 2012

Using storytelling to combat Alzheimer's; Health coverage changes prompt aging, disabled care concerns

NPR examines a new way to combat Alzheimer's -- with storytelling. In the meantime, health care changes to programs and budgets have some worried about how they will affect the aging and those with disabilities.

15 May 2012

Genetic cause of rare genetic disorder, Hamamy syndrome

Scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, have identified the genetic cause of a birth defect known as Hamamy syndrome .

14 May 2012

New insights into how body's innate immunity is triggered to create effective immune response

Singapore scientists from Bioprocessing Technology Institute (BTI) under the Agency of Science, Technology and Research (A*STAR) have for the first time, identified the molecular 'switch' that directly triggers the body's first line of defence against pathogens, more accurately known as the body's "innate immunity".

11 May 2012

Arno AR-42 for neurofibromatosis type 2 receives EMA orphan-drug designation

Arno Therapeutics, Inc. announced today that its investigational compound known as AR-42 has been granted orphan-drug designation by the European Medicines Agency's (EMA) Committee for Orphan Medicinal Products for the treatment of neurofibromatosis type 2 (NF2).

11 May 2012

Final results from Alnylam’s ALN-TTR01 Phase I trial on TTR-mediated amyloidosis

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today final results from its completed Phase I clinical trial with ALN-TTR01, an RNAi therapeutic targeting transthyretin (TTR) for the treatment of TTR-mediated amyloidosis.

11 May 2012

Genetic Disorder News and Research

Further Reading

$27 million received to speed new treatments for disabling neurological disorder

Researchers identify new mitochondrial protein complex linked with type 2 diabetes

CDI introduces MyCell Services

Study describes how seizures in people with AS could be linked to brain cell activity imbalance

Innovative strategy for regenerating skeletal muscle tissue

Kindstar, Insight Genetics collaborate to improve cancer care in China

Omixon Target, a next generation sequencing analysis software for targeted sequencing, released by Omixon

Researchers uncover insights into rare genetic disorders

Use of transplanted induced pluripotent stem cells could lead to new treatments for HD

European CHMP issues positive opinion to Vertex's KALYDECO for treatment of CF

New method developed to synthesise a set of potential glycosidase inhibitors

Regenerative medicine researchers explore innovative ways to treat childhood conditions

Prenatal Diagnosis publishes Sequenom CMM’s MaterniT21 PLUS LDT clinical study

New clues in the pathogenesis of skull and skin birth defects associated with BSS

Vejthani Hospital offers most effective procedure in gender selection

Using storytelling to combat Alzheimer's; Health coverage changes prompt aging, disabled care concerns

Genetic cause of rare genetic disorder, Hamamy syndrome

New insights into how body's innate immunity is triggered to create effective immune response

Arno AR-42 for neurofibromatosis type 2 receives EMA orphan-drug designation

Final results from Alnylam’s ALN-TTR01 Phase I trial on TTR-mediated amyloidosis

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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