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.

LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

5 Jul 2016

Using NMR to investigate intrinsically disordered proteins: an interview with Dr Isabella Felli

“IDPs” is now a widely used acronym that stands for “intrinsically disordered proteins.” It is the term generally used by the scientific community to refer to a wide variety of proteins that do not have a stable 3D structure and are instead characterized by a high extent of local mobility, disorder and many conformers that are accessible at room temperature.

From Bruker BioSpin Group 30 Jun 2016

New AAV 3.0 program to create next-generation viral vectors for better treatment of inherited diseases

The Perelman School of Medicine at the University of Pennsylvania has launched a new program, called AAV 3.0, to create new viral vectors to find quicker and better treatments for an array of diseases. James M. Wilson, MD, PhD, a professor of Medicine and director of the Orphan Disease Center, will lead an interdisciplinary team of over 30 scientists to create this new technology platform with support provided by the University of Pennsylvania Health System.

30 Jun 2016

Researchers investigate why N14Y, N14K mutations have distinct effects in KID syndrome patients

A team of New York-based researchers has compared the effects of two disease-causing mutations, potentially explaining why patients with the rare genetic disorder keratitis-ichthyosis-deafness (KID) syndrome can experience different sets of symptoms.

28 Jun 2016

Neurofibromatosis causes benign tumor formation in normal nervous tissue

Although neurofibromatosis (NF) is not commonly discussed, it affects more than 2 million people worldwide.

24 Jun 2016

Neurotherapeutic video game may help improve cognitive abilities in children with genetic disorders

A UC Davis researcher has created a video game for children who experience cognitive impairments from genetic disorders with the hope that that it will improve their ability to mentally process information about space and time.

23 Jun 2016

Molecular map of transporter proteins could be vital step toward drug discovery against zinc-related diseases

Mapping the molecular structure where medicine goes to work is a crucial step toward drug discovery against deadly diseases.

21 Jun 2016

Long-term opioid therapy may not be effective to manage pain in sickle cell disease patients

In a small study looking at pain assessments in adults with sickle cell disease, researchers at Johns Hopkins says overall, those treated long-term with opioids often fared worse in measures of pain, fatigue and curtailed daily activities than those not on long-term opioids.

21 Jun 2016

Researchers clarify cause of heart arrhythmia in myotonic dystrophy

An international joint research group found that the cause of heart arrhythmia in myotonic dystrophy was RNA abnormalities in the sodium channel in the heart, clarifying the symptom's mechanism. This finding will be helpful in prevention and early intervention of death in this disease, leading to the development of new treatment.

16 Jun 2016

RIKEN joins with Grace Science Foundation to gain better understanding of NGLY1 deficiency

RIKEN has entered into a collaboration with the Grace Science Foundation to conduct research on NGLY1 deficiency, a rare genetic disorder that was discovered in 2012 by American doctors.

15 Jun 2016

CHLA study provides novel insights into the brain mechanisms linked to Prader-Willi syndrome

A study published in the journal Human Molecular Genetics by researchers at Children's Hospital Los Angeles provides novel insights into the brain mechanisms underlying the insatiable hunger and subsequent obesity in patients with Prader-Willi syndrome.

15 Jun 2016

Defects in cerebrospinal fluid flow may contribute to scoliosis during adolescence

A new study in zebrafish suggests that irregular fluid flow through the spinal column brought on by gene mutations is linked to a type of scoliosis that can affect humans during adolescence.

13 Jun 2016

New study sheds light on impact of unknown genetic mutations in cystic fibrosis patients

When it comes to cystic fibrosis (CF), more than 2,000 different genetic mutations have been reported. However, only 200 of them have been categorized - leaving a genetic soup of 1,800 others for scientists and genetic counselors to figure out.

8 Jun 2016

Scientists develop non-toxic transplantation procedure using antibodies to target blood stem cells in mice

Harvard Stem Cell Institute scientists have taken the first steps toward developing a treatment that would make bone marrow - blood stem cell - transplantation safer and, as a result, more widely available to the millions of people living with blood disorders like sickle cell anemia, thalassemia, and AIDS.

7 Jun 2016

New research in mice provides better understanding of how HD begins and develops

Mice transplanted with cells grown from a patient suffering from Huntington's disease (HD) develop the clinical features and brain pathology of that patient, suggests a study published in the latest issue of Acta Neuropathologica by CHA University in Korea, in collaboration with researchers at Université Laval in Québec City, Canada.

1 Jun 2016

Use of next-generation gene sequencing in NICUs may improve diagnosis of rare diseases

The use of next-generation gene sequencing in newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases and deliver results more quickly to anxious families, according to new research in CMAJ (Canadian Medical Association Journal).

30 May 2016

New player in calcium signalling pathways acts as molecular brake to Orai activation

Information flow in cells relies on calcium as a key agent in several signalling pathways. Calcium dependent signalling is crucial in nearly every aspect of life - muscle movement, immune reactions, nerve function, light sensing and many such processes.

28 May 2016

Genetic Disorder News and Research

Further Reading

LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

Using NMR to investigate intrinsically disordered proteins: an interview with Dr Isabella Felli

New AAV 3.0 program to create next-generation viral vectors for better treatment of inherited diseases

Researchers investigate why N14Y, N14K mutations have distinct effects in KID syndrome patients

Neurofibromatosis causes benign tumor formation in normal nervous tissue

Neurotherapeutic video game may help improve cognitive abilities in children with genetic disorders

Molecular map of transporter proteins could be vital step toward drug discovery against zinc-related diseases

Long-term opioid therapy may not be effective to manage pain in sickle cell disease patients

Researchers clarify cause of heart arrhythmia in myotonic dystrophy

RIKEN joins with Grace Science Foundation to gain better understanding of NGLY1 deficiency

CHLA study provides novel insights into the brain mechanisms linked to Prader-Willi syndrome

Defects in cerebrospinal fluid flow may contribute to scoliosis during adolescence

New study sheds light on impact of unknown genetic mutations in cystic fibrosis patients

Scientists develop non-toxic transplantation procedure using antibodies to target blood stem cells in mice

New research in mice provides better understanding of how HD begins and develops

Use of next-generation gene sequencing in NICUs may improve diagnosis of rare diseases

New player in calcium signalling pathways acts as molecular brake to Orai activation

Meta-genomics analysis tool Taxonomer can rapidly and accurately detect pathogens

Researchers partially restore lost function of isolated cystic fibrosis lung cells

Chloride switch controls critical step in basement membrane formation

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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