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.

Improved gene therapy treatment shows promise in mice with cystic fibrosis

An improved gene therapy treatment can cure mice with cystic fibrosis (CF). Cell cultures from CF patients, too, respond well to the treatment. Those are the encouraging results of a study presented by the Laboratory for Molecular Virology and Gene Therapy at KU Leuven, Belgium.

17 Nov 2015

Protein sensor for proprioception found

Can you touch a finger to the tip of your nose with your eyes closed? Most of us can, thanks to a sense called proprioception, which tells us where our body parts are relative to each other and our environment. Not surprisingly, this sense is essential for normal movement and balance—walking, for instance.

10 Nov 2015

Agios announces data from dose-escalation phase 1 study of AG-120 in patients with IDH1 mutant positive advanced solid tumors

Agios Pharmaceuticals, Inc., a leader in the fields of cancer metabolism and rare genetic metabolic disorders, today announced the first data from the dose-escalation portion of the ongoing Phase 1 study evaluating single agent AG-120, a first-in-class, oral, selective, potent inhibitor of mutant isocitrate dehydrogenase-1 (IDH1), in advanced solid tumors. The data are being presented today at the AACR-NCI-EORTC International Conference on Molecular Targets and Cancer Therapeutics in Boston. AG-120 is being developed in collaboration with Celgene.

9 Nov 2015

First comprehensive genomic and biologic study of top skin disease-causing microbes

An international team of scientists, led by researchers from A*STAR's Genome Institute of Singapore (GIS), Institute of Medical Biology (IMB), and Bioinformatics Institute (BII), and P&G, have completed the first comprehensive genomic and biologic study of all species of Malassezia, one of the top skin disease-causing microbes.

9 Nov 2015

Utah chemists devise new way to detect DNA damage

University of Utah chemists devised a new way to detect chemical damage to DNA that sometimes leads to genetic mutations responsible for many diseases, including various cancers and neurological disorders.

6 Nov 2015

Discovery offers promising alternative to current therapies for AMD and ROP

A research team led by scientists at Beth Israel Deaconess Medical Center and the University of New Mexico School of Medicine has identified a small molecule that treats animal models of aged macular degeneration (AMD) and retinopathy of prematurity (ROP) by preventing the overgrowth of blood vessels that are characteristic of these two retinal diseases.

3 Nov 2015

UAB study aims to provide improved care related to reproductive health of women with CF

For University of Alabama at Birmingham School of Nursing Assistant Professor Sigrid Ladores, Ph.D., investigating reproductive health concerns in adolescents and young adults with chronic illnesses, particularly those with cystic fibrosis, is not just a profession, it is a passion.

3 Nov 2015

GUMC study examines patients' most preferred methods for receiving common medical test results

The results of common medical tests are sometimes delivered to patients by email, letters or voice mail, but are these the most preferred methods? According to one of the first studies to look at this question, the answer is no.

31 Oct 2015

Study reveals mechanism behind protein-related diseases

Dartmouth researchers have found that some proteins turn into liquid droplets on the way to becoming toxic solids implicated in neurodegenerative diseases and other genetic disorders.

30 Oct 2015

Researchers identify role of cGAS enzyme in autoimmune diseases

Activating an enzyme that sounds an alarm for the body's innate immune system causes two lethal autoimmune diseases in mice, while inhibiting the same enzyme rescues them, UT Southwestern Medical Center researchers report.

28 Oct 2015

Researchers develop new growth charts for U.S. children with Down syndrome

Pediatric researchers have developed the first set of growth charts for U.S. children with Down syndrome since 1988. These new charts provide an important tool for pediatricians to evaluate growth milestones for children and adolescents with this condition. With these new charts, pediatricians will be able to compare each patient's growth patterns with peers of the same age and sex who have Down syndrome.

28 Oct 2015

Patients with treatment-resistant autoimmune blood conditions may benefit from sirolimus

The immunosuppressant sirolimus is an effective and safe steroid-sparing therapy for children and young adults with highly treatment-resistant autoimmune blood conditions, according to a study published online today in Blood, the Journal of the American Society of Hematology.

27 Oct 2015

First computational method based on evolutionary principles developed to predict protein dynamics

Researchers from the Structural Biology Computational Group of the Spanish National Cancer Research Centre, led by Alfonso Valencia, in collaboration with a group headed by Francesco Gervasio at the University College London (UK), have developed the first computational method based on evolutionary principles to predict protein dynamics, which explains the changes in the shape or dimensional structure that they experience in order to interact with other compounds or speed up chemical reactions.

26 Oct 2015

New drug delivery method could be used to target cancer, tuberculosis

Scientists have designed a novel method for improving the delivery of therapeutic molecules into diseased cells such as those found in cancer and tuberculosis.

23 Oct 2015

Successful treatment of rare neurodegenerative disease exemplifies potential of precision medicine

A 20-month-old girl suffering from a rare neurodegenerative disease was diagnosed by exome sequencing and successfully treated.

23 Oct 2015

$Cesarean delivery does not reduce fracture risk in newborns with rare bone disorder$

Cesarean delivery does not reduce fracture risk in newborns with rare bone disorder

Cesarean delivery was not associated with decrease in the at-birth fracture rates in infants with osteogenesis imperfecta, a rare bone disorder, said a consortium of researchers led by Baylor College of Medicine.

23 Oct 2015

Seizure control improves for TSC patients undergoing more extensive surgery

Children with the genetic disorder tuberous sclerosis complex (TSC) often need epilepsy surgery for severe, uncontrollable seizures. A new study finds that seizure control is improved for patients undergoing more extensive surgery, reports the October issue of Neurosurgery, official journal of the Congress of Neurological Surgeons, published by Wolters Kluwer.

16 Oct 2015

Rare disease diagnosis available in days not years: BIA announcement

It currently takes 5 years on average to diagnose a child with a rare genetic disease, so he or she can receive the most appropriate care. This is set to change with an agreement facilitated by Northern Health Science Alliance (NHSA) between Congenica and 5 of its member hospitals, which will see them adopt the company’s world leading Sapientia™ technology.

16 Oct 2015

Only few doctors refer children with developmental delays to genetics specialists, say researchers

A nine-month-old boy isn't rolling over, reaching for objects or babbling as he should be. One step his doctor won't likely take right away: have him evaluated by a genetics specialist.

15 Oct 2015

New breakthrough may provide key to understanding how to treat Muscular Dystrophy

New research published today in the journal eLife has demonstrated a new method for observing the behaviour of the protein Dystrophin in a living animal cell, in real-time. This breakthrough may provide a key to understanding how to treat the genetic disease, Muscular Dystrophy.

14 Oct 2015

Genetic Disorder News and Research

Further Reading

Improved gene therapy treatment shows promise in mice with cystic fibrosis

Protein sensor for proprioception found

Agios announces data from dose-escalation phase 1 study of AG-120 in patients with IDH1 mutant positive advanced solid tumors

First comprehensive genomic and biologic study of top skin disease-causing microbes

Utah chemists devise new way to detect DNA damage

Discovery offers promising alternative to current therapies for AMD and ROP

UAB study aims to provide improved care related to reproductive health of women with CF

GUMC study examines patients' most preferred methods for receiving common medical test results

Study reveals mechanism behind protein-related diseases

Researchers identify role of cGAS enzyme in autoimmune diseases

Researchers develop new growth charts for U.S. children with Down syndrome

Patients with treatment-resistant autoimmune blood conditions may benefit from sirolimus

First computational method based on evolutionary principles developed to predict protein dynamics

New drug delivery method could be used to target cancer, tuberculosis

Successful treatment of rare neurodegenerative disease exemplifies potential of precision medicine

Cesarean delivery does not reduce fracture risk in newborns with rare bone disorder

Seizure control improves for TSC patients undergoing more extensive surgery

Rare disease diagnosis available in days not years: BIA announcement

Only few doctors refer children with developmental delays to genetics specialists, say researchers

New breakthrough may provide key to understanding how to treat Muscular Dystrophy

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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