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.

Removing copper from the blood can destroy some of the deadliest cancers

Removing copper from the blood can destroy some of the deadliest cancers

Australian researchers have discovered that removing copper from the blood can destroy some of the deadliest cancers that are resistant to immunotherapy using models of the disease.

20 Aug 2020

Genes linked to Down syndrome abnormalities may offer protection against solid tumors

Genes linked to Down syndrome abnormalities may offer protection against solid tumors

Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems.

6 Aug 2020

Novel therapeutics targeting primary cilia may reverse neurodevelopmental disorders

Novel therapeutics targeting primary cilia may reverse neurodevelopmental disorders

Primary cilia are structures that act like antennas for cells to identify signals and occur less in mice affected by Fragile X syndrome since birth.

31 Jul 2020

A new cell-based gene therapy approach to correct hemophilia A

A new cell-based gene therapy approach to correct hemophilia A

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

29 Jul 2020

Whole genome sequencing can improve rare disease diagnosis

Whole genome sequencing can improve rare disease diagnosis

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.

25 Jun 2020

Dysfunctional placenta can contribute to Cornelia de Lange syndrome

Dysfunctional placenta can contribute to Cornelia de Lange syndrome

Researchers have demonstrated that a dysfunctional placenta can play a formerly unknown role during the earliest phases of development in Cornelia de Lange.

17 Jun 2020

Overactive enzyme causes an inherited form of hypertension

Overactive enzyme causes an inherited form of hypertension

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

12 Jun 2020

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