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Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Scientists used a gene editing method called CRISPR/Cas9 to generate mice that faithfully mimic a fatal respiratory disorder in newborn infants that turns their lips and skin blue. The new laboratory model allowed researchers to pinpoint the ailment's cause and develop a potential and desperately needed nanoparticle-based treatment.

19 Jun 2019

Researchers identify genes linked with survival in children with biliary atresia

Scientists at Cincinnati Children's Hospital Medical Center have identified an expression pattern of 14 genes at the time of diagnosis that predicts two year, transplant-free survival in children with biliary atresia – the most common diagnosis leading to liver transplants in children.

19 Jun 2019

Study uncovers potential modifier genes in patients with Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is the most common inherited neurological disorder affecting peripheral motor and/or sensory nerves in humans.

18 Jun 2019

CZI announces new program to drive progress in the fight against rare diseases

Today, the Chan Zuckerberg Initiative announced a new program aimed at supporting and lifting up the work that patient communities are doing to accelerate research and drive progress in the fight against rare diseases.

11 Jun 2019

Polygenic risk scores based on entire genome sequence may reliably predict heart disease

Specialized risk scores derived from testing that calculates the cumulative effect of an individual's entire DNA sequence, the genome, may reliably predict heart disease in people who have not yet had a heart attack, according to new research in Circulation: Genomic and Precision Medicine, an American Heart Association journal.

11 Jun 2019

Study suggests therapeutic solutions for pantothenate kinase-associated neurodegeneration

The scientific research team from the Universidad Pablo de Olavide led by doctor José Antonio Sánchez Alcázar has published a new study in the international magazines Molecular Neorubiology and Neural Regeneration Research.

11 Jun 2019

Chickenpox vaccine lessens likelihood of pediatric shingles

Children who receive the chickenpox (varicella) vaccine are significantly less likely to contract shingles, according to a new study led by researchers at the Kaiser Permanente Center for Health Research published today in the journal Pediatrics.

10 Jun 2019

Lithium improves muscle size and strength in mice with limb girdle muscular dystrophy

Standing up from a chair, climbing stairs, brushing one's hair - all can be a struggle for people with a rare form of muscular dystrophy that causes progressive weakness in the shoulders and hips. Over time, many such people lose the ability to walk or to lift their arms above their heads.

3 Jun 2019

Newly approved gene therapy for SMA is based on delivery vehicle discovered by Penn expert

James Wilson, MD, PhD, recalls being struck by the devastating toll of rare diseases as a young physician in the 1980s. He set out on a path to correct the genes that cause these conditions, including spinal muscle atrophy (SMA), the most common inherited fatal disease in infants.

25 May 2019

Largest study of women with hyperemesis gravidarum launches in Europe

Women with severe sickness during pregnancy are being invited to join the largest study of the condition in Europe, led by Guy's and St Thomas' NHS Foundation Trust and King's College London.

16 May 2019

Bioactive compounds in cocoa bean extract could be used to develop new treatment for skeletal diseases

An international team of researchers, led by the University of Granada (UGR) in Spain, has successfully isolated a bioactive compound present in cocoa bean extract that has proven effective in combatting skeletal diseases such as achondroplasia.

7 May 2019

CU Anschutz researchers identify new immunodeficiency disease

A new immunodeficiency disease caused by a novel genetic mutation has been identified by researchers at the University of Colorado Anschutz Medical Campus providing unique insights into cell biology.

6 May 2019

Scientists discover first gene involved in lower urinary tract obstruction

Even before birth, an obstructed urethra can cause a variety of issues in the unborn child, ranging from mild urinary problems to kidney failure.

2 May 2019

Summer bummer: A young camper’s $142,938 snakebite

It was dusk as Oakley Yoder and the other summer camp kids hiked back to their tents at Illinois' Jackson Falls last July. As the group approached a mound of boulders blocking the path, Oakley, then 9, didn't see the lurking snake — until it bit a toe on her right foot.

30 Apr 2019

Pregnant women with type 1 diabetes are at greater risk of preterm birth

Pregnant women with type 1 diabetes are at increased risk of delivering their baby prematurely. The risk increases as blood sugar levels rise, however women who maintain the recommended levels also risk giving birth prematurely.

23 Apr 2019

Study provides new insights into regulatory T cells' role in protecting against autoimmune disease

An international study led from Karolinska Institutet provides new insights into the regulatory T cells' role in protecting against autoimmune disease.

23 Apr 2019

Researchers identify cause of inherited metabolic disorder

A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA mutation as the cause of an inherited metabolic disorder.

16 Apr 2019

Novo Biosciences achieves major milestones in its new drug to treat heart disease and DMD

Novo Biosciences Inc., has achieved several major milestones in its mission of bringing its breakthrough drug candidate, trodusquemine, to market as a potential regenerative medicine treatment for heart disease and Duchenne muscular dystrophy.

15 Apr 2019

Study demonstrates viability of gene editing strategy for recessive dystrophic epidermolysis bullosa

A group of researchers from the Centro de Investigación Biomédica en Red de Enfermedades Raras, Universidad Carlos III de Madrid, the Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, and the Instituto de Investigación Sanitaria Fundación Jiménez Díaz have led a study which demonstrates the viability of a gene editing strategy for recessive dystrophic epidermolysis bullosa (also known as butterfly chilidren) with the tool CRISPR/Cas9 in preclinical models with this disease.

8 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

Rare Disease News and Research

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Researchers identify genes linked with survival in children with biliary atresia

Study uncovers potential modifier genes in patients with Charcot-Marie-Tooth disease

CZI announces new program to drive progress in the fight against rare diseases

Polygenic risk scores based on entire genome sequence may reliably predict heart disease

Study suggests therapeutic solutions for pantothenate kinase-associated neurodegeneration

Chickenpox vaccine lessens likelihood of pediatric shingles

Lithium improves muscle size and strength in mice with limb girdle muscular dystrophy

Newly approved gene therapy for SMA is based on delivery vehicle discovered by Penn expert

Largest study of women with hyperemesis gravidarum launches in Europe

Bioactive compounds in cocoa bean extract could be used to develop new treatment for skeletal diseases

CU Anschutz researchers identify new immunodeficiency disease

Scientists discover first gene involved in lower urinary tract obstruction

Summer bummer: A young camper’s $142,938 snakebite

Pregnant women with type 1 diabetes are at greater risk of preterm birth

Study provides new insights into regulatory T cells' role in protecting against autoimmune disease

Researchers identify cause of inherited metabolic disorder

Novo Biosciences achieves major milestones in its new drug to treat heart disease and DMD

Study demonstrates viability of gene editing strategy for recessive dystrophic epidermolysis bullosa

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

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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