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.

Breakthrough gene therapy restores dystrophin protein in Duchenne muscular dystrophy

Indiana University School of Medicine researchers have made a significant breakthrough in developing a new gene therapy approach that restores full-length dystrophin protein, which could lead to new treatments for people with Duchenne muscular dystrophy (DMD).

24 Jul 2024

Researchers develop accurate and rapid method for diagnosing genetic disorders

Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian genetic disorders do not have an accurate molecular diagnosis.

23 Jul 2024

New approaches for repairing the function of mutated proteins that cause stroke

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, severe, and deadly genetic disorder characterized by damage to small blood vessels in the brain and which triggers strokes.

16 Jul 2024

Aging aggravates liver fibrosis in Down Syndrome, new study finds

A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 12, entitled, "Aging exacerbates oxidative stress and liver fibrosis in an animal model of Down Syndrome."

10 Jul 2024

Small molecule discovery offers hope for treatment of Angelman syndrome

Angelman syndrome is a rare genetic disorder caused by mutations in the maternally-inherited UBE3A gene and characterized by poor muscle control, limited speech, epilepsy, and intellectual disabilities.

8 Jul 2024

Neanderthal child with Down syndrome reveals ancient caregiving practices

Research reveals that Neanderthals provided extensive caregiving, allowing a child with Down syndrome and congenital ear pathology to survive for at least six years, highlighting their complex social structures.

1 Jul 2024

Comparative study on preventative SMA therapies shows mixed outcomes

In a first-of-its-kind study, researchers compared the efficacy of preventative therapy for spinal muscular atrophy (SMA) between two well-matched study groups, using either gene therapy (onasemnogene abeparvovec) alone or in combination with risdiplam (oral medication) or nusinersen (intrathecal injection) administered before apparent signs of disease emerged.

25 Jun 2024

Anakinra shows promise in reducing symptoms in patients with Sanfilippo syndrome

As a neurodegenerative disease characterized by childhood onset dementia, Sanfilippo syndrome causes immense suffering in many ways, including pain, loss of speech, extreme agitation, and distress, gastrointestinal symptoms, and profound sleep disturbance.

21 Jun 2024

A tale of two states: Arizona and Florida diverge on how to expand kids’ health insurance

Arizona and Florida — whose rates of uninsured children are among the highest in the nation — set goals last year to widen the safety net that provides health insurance to people 18 and younger.

20 Jun 2024

New therapeutic approach for Duchenne muscular dystrophy combines LED therapy with idebenone

In an animal model of Duchenne muscular dystrophy, Brazilian researchers tested a therapy that combines photobiomodulation using laser light or light-emitting diodes (LEDs) with idebenone, an antioxidant compound investigated for application in neurodegenerative diseases.

14 Jun 2024

CSHL team identifies crucial protein interactions in RNA splicing process

Bodybuilders and cellular mechanisms agree generating protein is a heavy lift. To complete the task, cells rely on complexes called spliceosomes.

10 Jun 2024

Critical role of protein-lipid interactions in mitochondrial energy production revealed

By studying mutations in yeast and human cells, Johns Hopkins Medicine scientists say they have found that biochemical bonds between fats and proteins in the mitochondrion, the cell's powerhouse, play a crucial role in how our cells produce energy.

7 Jun 2024

Targeting synaptic lipid signaling: A novel approach to mental health treatment

Increased levels of bioactive lipids produced naturally in the body, which affect excitatory transmission between brain cells, promote mental disorders.

6 Jun 2024

Non-coding gene mutation linked to monogenic neurodevelopmental disorders

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide.

31 May 2024

World's first human mini-brain with a fully functional blood-brain barrier developed

In a pioneering achievement, a research team led by experts at Cincinnati Children's have developed the world's first human mini-brain that incorporates a fully functional blood-brain barrier (BBB).

20 May 2024

Human cell-based model of thoracic aortic aneurysm offers new opportunities for drug development

Using human cells in laboratory rats, Michigan Medicine researchers have developed a functional model of thoracic aortic aneurysm, creating opportunities for more effective understanding of disease development and treatments for the potentially fatal condition, a study suggests.

14 May 2024

What Florida’s new 6-week abortion ban means for the South, and traveling patients

Monica Kelly was thrilled to learn she was expecting her second child.

29 Apr 2024

New platform can deliver gene therapy precisely to specific areas of the brain

A novel approach to gene therapy is improving lives in ways once thought impossible. Researchers at The Ohio State University Wexner Medical Center and College of Medicine have developed a new platform to deliver the gene therapy precisely to specific areas of the brain.

18 Apr 2024

SRF announces grant to support research on SynGAP-Related Disorder in adults

The SynGAP Research Fund 501(c) today announced a grant to Dr. Danielle Andrade, Dr. Miles Thompson, Dr. Ryan Yuen, Dr. Rogier Kerssebook, and Dr. Anatoljevna Anna Kattentidt to support research on SynGAP-Related Disorder (SRD) in adults.

4 Apr 2024

New research advocates genetic screening in early onset atrial fibrillation

Although the vast majority of clinicians do not view atrial fibrillation (AF) as a genetic disorder, a White Paper in the Canadian Journal of Cardiology, published by Elsevier, analyzes the current understanding of genetics and the role of genetic testing in AF and concludes there is an increasing appreciation that genetic culprits for potentially life-threatening ventricular cardiomyopathies and channelopathies may initially present with AF.

28 Mar 2024