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Research team publishes findings from study of TAF1 syndrome

An international, multidisciplinary research team from more than 50 institutions, led by geneticist and psychiatrist Gholson Lyon, MD, PhD, of the New York State Office for People With Developmental Disabilities' Institute for Basic Research in Developmental Disabilities, today announced publication of findings from its study of the rare disease TAF1 syndrome.

21 Nov 2019

Three UCLA researchers receive multimillion-dollar grant from state's stem cell agency

Three researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have received awards totaling more than $18 million from the California Institute for Regenerative Medicine, the state's stem cell agency.

31 Oct 2019

Researchers make progress toward gene-based strategies to treat inherited neurometabolic diseases

Researchers are making great strides toward developing gene-based strategies to treat a variety of inherited neurometabolic diseases characterized by severe neurological involvement.

29 Oct 2019

Researchers discover genes linked to sex ratio and male fertility in mice

One of the more recent trends among parents-to-be is the so-called gender reveal, a party complete with pink or blue cake to answer the burning question, "Is it a boy or girl?" After all, it's presumed that there's a 50-50 chance you'd have one or the other.

18 Oct 2019

Researchers identify gene mutation that causes musculoskeletal problems in children

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development.

3 Oct 2019

Cure for Rett Syndrome a step closer as scientists successfully reactivate 'back-up’ genes

A team headed by Vincent Pasque at his Lab at KU Leuven alongside researchers from the Jean-Christophe Marine lab and the Edith Heard lab have made a significant step towards developing a treatment for Rett syndrome and other X chromosome linked disorders.

17 Sep 2019

Disease-modifying therapy for Alport syndrome still remains an unmet need

Alport syndrome is a hereditary type IV collagen disease that leads to progressive proteinuria, renal fibrosis, and kidney failure.

13 Jun 2019

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Rettsyndrome.org announced their funding of two new research projects today. Jeannie T. Lee, MD, Ph.D. of Massachusetts General Hospital is awarded a two-year ANGEL Grant for $600,000 to focus on reactivating the silent X chromosome for Rett syndrome and Davut Pehlivan, MDof Baylor College of Medicine is awarded a two-year Mentored Clinical Fellowship for $250,000 to study MECP2 Duplication syndrome.

6 Jun 2019

New drug could alleviate symptoms of rare musculoskeletal condition

A new study shows a drug developed in conjunction with investigators at Indiana University School of Medicine to alleviate symptoms of a rare musculoskeletal condition is significantly more effective than conventional therapies.

20 May 2019

Sussex scientists discover new genetic defect that causes intellectual disability

Researchers at the University of Sussex have discovered a new genetic defect which causes a form of intellectual disability; a finding that will improve screening programmes and help to end a 'diagnostic odyssey' for families across the globe.

1 May 2019

New gene therapy cures babies with fatal 'Bubble Boy' disease

A new gene therapy created by US researchers appears to have cured eight infant boys born with a rare genetic disorder referred to as “Bubble Boy” disease.

18 Apr 2019

Research unravels possible factor for female bias in lupus

The autoimmune disease lupus, which can cause fatigue, a facial rash, and joint pain, strikes females far more often than males. Eight-five percent of people with lupus are female, and their second X chromosome seems partly to blame.

5 Apr 2019

Inherited form of rickets improves more with new injectable medicine than conventional therapy

Burosumab, a new injectable medicine to treat X-linked hypophosphatemia (XLH), an inherited form of rickets, demonstrates superior improvements in rickets and other outcomes compared with conventional therapy in an international, phase 3 clinical trial in children.

25 Mar 2019

Study findings hold promise for children with DMD

Prednisone, the current standard of care used to treat kids with Duchenne muscular dystrophy (DMD), reduces chronic inflammation but has harsh side effects.

11 Feb 2019

New method modifies blood stem cells to reverse genetic mutation that causes IPEX

UCLA researchers led by Dr. Donald Kohn have created a method for modifying blood stem cells to reverse the genetic mutation that causes a life-threatening autoimmune syndrome called IPEX.

11 Jan 2019

Researchers identify molecule to fight myotubular myopathy

Myotubular myopathy is a severe genetic disease that leads to muscle paralysis from birth and results in death before two years of age. Although no treatment currently exists, researchers from the University of Geneva, Switzerland, - working in collaboration with the University of Strasbourg, France, - have identified a molecule that not only greatly reduces the progression of the disease but also boosts life expectancy in animal models by a factor of seven.

19 Nov 2018

X linked News and Research

Research team publishes findings from study of TAF1 syndrome

Three UCLA researchers receive multimillion-dollar grant from state's stem cell agency

Researchers make progress toward gene-based strategies to treat inherited neurometabolic diseases

Researchers discover genes linked to sex ratio and male fertility in mice

Researchers identify gene mutation that causes musculoskeletal problems in children

Cure for Rett Syndrome a step closer as scientists successfully reactivate 'back-up’ genes

Disease-modifying therapy for Alport syndrome still remains an unmet need

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

New drug could alleviate symptoms of rare musculoskeletal condition

Sussex scientists discover new genetic defect that causes intellectual disability

New gene therapy cures babies with fatal 'Bubble Boy' disease

Research unravels possible factor for female bias in lupus

Inherited form of rickets improves more with new injectable medicine than conventional therapy

Study findings hold promise for children with DMD

New method modifies blood stem cells to reverse genetic mutation that causes IPEX

Researchers identify molecule to fight myotubular myopathy

Small populations of normal T cells could modify disease severity in patients with XLP1

First U.S. patient treated with innovative gene therapy at Bascom Palmer Eye Institute

Mimicking Human Brain Development Using Organoids

Subcutaneous injection of new protein helps treat hemophilia more effectively

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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