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.

Mice born with Fragile X syndrome have fewer cell antennas

Structures called primary cilia - which act like TV antennas for cells to detect signals - are present in fewer numbers in mice born with Fragile X syndrome, according to researchers from The University of Texas Health Science Center at San Antonio.

30 Jul 2020

A new cell-based gene therapy approach to better treat patients with hemophilia A

In a new study from the Wake Forest Institute for Regenerative Medicine researchers have developed an optimized cellular platform for delivering Factor 8 to better treat patients with hemophilia A.

28 Jul 2020

Study identifies common characteristics of pediatric vestibular schwannomas

Vestibular schwannomas, more commonly known as acoustic neuromas, are benign brain tumors that develop on the balance (vestibular) and hearing or auditory nerves leading from the inner ear to the brain.

23 Jul 2020

Developing a Better Understanding of Polycystic Ovary Syndrome (PCOS)

In this interview, Dr. Andrea Dunaif talks to News-Medical about their genetic analysis study which suggests there are different subtypes of PCOS.

20 Jul 2020

New discovery helps explain heart defects in Barth syndrome

The heart needs energy to pump blood. So, energy production defects in heart muscles result in a variety of cardiac diseases.

7 Jul 2020

NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome, reveals study

An international research collaboration, including Professor IIJIMA Kazumoto et al. (of the Department of Pediatrics, Kobe University Graduate School of Medicine) has revealed that NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children.

3 Jul 2020

Study provides mechanistic explanation of psychotic symptoms in young people

Schizophrenia symptoms may be the result of increased connections between sensory and language-processing brain areas.

30 Jun 2020

Study shows how two proteins provide a tunnel for bad cholesterol to enter the cells

A study has outlined how two proteins are instrumental to bringing cholesterol into cells – a finding that has implications for a range of diseases.

26 Jun 2020

Whole genome sequencing can improve diagnosis and treatment of patients with rare diseases

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

24 Jun 2020

PCOS subtypes associated with distinct genetic variations, finds study

Researchers working on a National Institutes of Health (NIH) funded study found that polycystic ovary syndrome (PCOS) has distinct subtypes that are associated with genetic variations.

24 Jun 2020

Persistent DNA damage in the placenta can affect embryonic growth

Scientists at the Stowers Institute for Medical Research have shown that a dysfunctional placenta can play a previously unrecognized role during the earliest stages of development in mouse models of Cornelia de Lange syndrome.

16 Jun 2020

Researchers question the mechanism of retinitis pigmentosa

Researchers who made a knock-in mouse-model of the genetic disorder retinitis pigmentosa 59, or RP59, expected to see retinal degeneration and retinal thinning. As reported in the journal Cells, they surprisingly found none, calling into question the commonly accepted -- though never proved -- mechanism for RP59.

12 Jun 2020

Overactive enzyme causes an inherited form of high blood pressure

A Turkish family from a village near the Black Sea first caught the attention of medical researchers in the early 1970s.

11 Jun 2020

UTSW/Children's Health joint program approved as Certified Duchenne Care Center

A joint program of UT Southwestern Medical Center and Children's Health has been approved as a Certified Duchenne Care Center by Parent Project Muscular Dystrophy, the nation's most comprehensive nonprofit organization focused on finding a cure for Duchenne muscular dystrophy.

27 May 2020

UVA researchers discover essential key to hearing sensitivity in the inner ear

New research from the University of Virginia School of Medicine is shedding light on the biological architecture that lets us hear – and on a genetic disorder that causes both deafness and blindness.

26 May 2020

Study paves way to better understand the pathophysiology of schizophrenia

There is an extremely high probability that individuals with 22q11.2 microdeletion syndrome - a rare genetic disorder - will develop schizophrenia together with one of its most common symptoms, auditory hallucinations.

26 May 2020

Texas A&M study offers hope for young children diagnosed with Menkes disease

A Texas A&M AgriLife Research team has good news for patients with copper-deficiency disorders, especially young children diagnosed with Menkes disease.

9 May 2020

FDA approves first-ever treatment for patients with inoperable plexiform neurofibromas

The U.S. Food and Drug Administration has approved Koselugo (selumetinib) for use in patients with inoperable plexiform neurofibromas, a common manifestation in the disease neurofibromatosis type one (NF1).

13 Apr 2020

Study: Direct and repetitive irradiation with 222nm UVC does not cause skin cancer

Joint research between Kobe University and Ushio Inc. has provided proof for the first time in the world that direct and repetitive illumination from 222nm ultraviolet radiation C (UVC), which is a powerful sterilizer, does not cause skin cancer.

7 Apr 2020

Study of rare genetic disorder that causes severe eyesight problems

Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies. This disease impacts the gene encoding protein transthyretin which is produced in the liver and also eyes.

3 Apr 2020