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: C5ORF42 gene contributes to Joubert Syndrome

History, science and discovery come together to help family members affected by this syndrome make informed family planning choices. C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals.

11 May 2012

New University of Florida research center to focus on rare genetic illness

With the support of a Major League Baseball star, a new University of Florida research center on an island settled by the Vikings could lead to breakthroughs about a rare genetic disorder and potentially change the course of care for high blood pressure and other common conditions.

10 May 2012

Basser Research Center to focus on treatment and prevention of inherited cancers

A $25 million gift to the University of Pennsylvania from alumni Mindy and Jon Gray will establish a center focused on the treatment and prevention of cancers associated with hereditary BRCA mutations.

9 May 2012

Research grants on facioscapulohumeral dystrophy prove useful as genetic basis is found

Businessman Bill Moss’s determination to fight his untreatable muscle-wasting disease may have paid off. Four years ago, Mr Moss, a former Macquarie Bank Executive Director, established a charitable research foundation, FSHD Global, which partly funded the Italian researchers who made the breakthrough.

8 May 2012

Vertex reports interim data from VX-809 and KALYDECO combination Phase 2 study for cystic fibrosis

Vertex Pharmaceuticals Incorporated announced today an interim analysis of data from an ongoing Phase 2 study of VX-809 and KALYDECO (ivacaftor) that showed significant improvements in lung function (FEV1) among adults with cystic fibrosis (CF) who have two copies.

7 May 2012

Bionic eye helps two blind men see for the first time in 20 years

In a medical breakthrough two blind men have regained partial sight for the first time in more than 20 years after receiving a “bionic eye”. Scientists said the first clinical trials of the microchip eye implant, which measures just 3mm across and is fitted behind the eyeball, have proved successful and “exceeded expectations”.

4 May 2012

Rapamycin could help prevent autism in newborns with seizures

Early-life seizures are known to be associated with autism, and studies indicate that about 40 percent of patients with autism also have epilepsy. A study from Boston Children's Hospital finds a reason for the link, and suggests that an existing drug, already shown to be safe in children, could help prevent autism from developing in newborns who have seizures.

3 May 2012

Ultragenyx reports results from UX001 Phase 1 study on HIBM

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced results from a first-in-human, multi-center, Phase 1 study of UX001 in patients with hereditary inclusion body myopathy (HIBM) showing that UX001 was well-tolerated with an expected extended release profile on absorption after oral administration

2 May 2012

Pfizer receives FDA approval for Elelyso to treat Type 1 Gaucher disease

The U.S. Food and Drug Administration today approved Elelyso (taliglucerase alfa) for long-term enzyme replacement therapy to treat a form of Gaucher disease, a rare genetic disorder.

2 May 2012

Couples with infertility and miscarriages offered detailed embryo screening with 99% accuracy

Termed “preimplantation genetic screening (PGS)” the process involves a full chromosome count of embryos to ensure only the healthiest are implanted. It has a 99 per cent accuracy rate, giving hopeful parents the best chance to conceive and carry a healthy baby to term.

30 Apr 2012

Glycolipids play an important role in intercellular signalling

In a new study, scientists at the University of Copenhagen show that a specific type of carbohydrate plays an important role in the intercellular signalling that controls the growth and development of the nervous system. In particular, defects in that carbohydrate may result in the uninhibited cell growth that characterizes the genetic disease neurofibromatosis and certain types of cancer.

30 Apr 2012

FDA approves Novartis’ Afinitor for treatment of renal angiomyolipomas and TSC

Novartis Pharmaceuticals Corporation announced today that the US Food and Drug Administration (FDA) approved Afinitor (everolimus) tablets for the treatment of adult patients with kidney tumors known as renal angiomyolipomas and tuberous sclerosis complex (TSC), who do not require immediate surgery.

27 Apr 2012

Novartis receives FDA approval for Afinitor to treat renal angiomyolipomas caused by TSC

The U.S. Food and Drug Administration approved Afinitor (everolimus), the first drug approved specifically to treat non-cancerous kidney tumors (renal angiomyolipomas) not requiring immediate surgery in patients with tuberous sclerosis complex.

27 Apr 2012

U-M’s second human embryonic stem cell line now available for federally-funded research

The University of Michigan's second human embryonic stem cell line has just been placed on the U.S. National Institutes of Health's registry, making the cells available for federally-funded research. It is the second of the stem cell lines derived at U-M to be placed on the registry.

26 Apr 2012

Laws against cousin marriage are not supported by science: New book

The health risks of marrying a cousin have been grossly overstated, says a new book. A better understanding of the health effects of cousin marriage could mean more appropriate marriage laws and better medical care for cousin couples and their children.

26 Apr 2012

New text on nursing of autism spectrum disorder

The growing number of children and adults on the autism spectrum represent a growing need for quality health care that is sensitive to the issues they face. This is the premise and challenge behind a new text, Nursing of Autism Spectrum Disorder: Evidence-based Integrated Care across the Lifespan (Springer, April 2012), edited by Dr. Ellen Giarelli, an associate professor in Drexel's College of Nursing and Health Professions, with Dr. Marcia Gardner.

18 Apr 2012

Abnormally low level of SMN protein linked to movement problems in spinal muscular atrophy

An abnormally low level of a protein in certain nerve cells is linked to movement problems that characterize the deadly childhood disorder spinal muscular atrophy, new research in animals suggests.

12 Apr 2012

KLF15 gene governs the body's ability to burn fat during exercise

While exercise is accepted universally as the most beneficial prescription physicians can write for patients, little is known about the molecular mechanisms that generate its widespread health benefits. Researchers from Case Western Reserve School of Medicine have shed light on this mystery by discovering that a genetic factor, Kruppel-like Factor 15 (KLF15), governs the body's ability to burn fat during exercise.

10 Apr 2012

Impact of Personal Genomics Study to launch data collection phase

As genetic risk information plays an increasingly important role in the diagnosis and treatment of many diseases, private companies have made personal genomic testing for these risk factors widely available to the public. However, very little data has been gathered to understand the motivations and expectations of consumers of personal genomic services, the psychological and behavioral impact of these services, and the associated ethical, legal and social issues—until now.

4 Apr 2012