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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

Royal Holloway professors to lead new to research into curing Neurofibromatosis type 1

Linda Popplewell, Lecturer in Biomedical Sciences, and world-renowned Professor George Dickson, from the School of Biological Sciences, both at Royal Holloway, will lead a team looking for a treatment for NF1, a genetic disorder that causes tumors to form on nerve tissue.

20 Mar 2019

Fear center in the brain provides protection against body perception disorders

If functionality of the brain's amygdala is impaired, illusory perceptions arise much faster and more pronounced.

13 Mar 2019

Researchers unravel how the immune system responds to diffuse cutaneous leishmanisis

In diffuse cutaneous leishmanisis, a rare form of leishmaniasis, parasites grow uncontrolled in skin lesions across the body.

8 Mar 2019

Researchers find cause, treatment for CVID lung disease using precision medicine

Researchers have identified that dysfunction of a specific immune cell, called B cells, underlies lung disease that affects patients with the rare immunological disorder known as common variable immunodeficiency.

8 Mar 2019

Liver tissue model can help investigate the effects of RNA interference

Novel therapies based on a process known as RNA interference hold great promise for treating a variety of diseases by blocking specific genes in a patient's cells. Many of the earliest RNAi treatments have focused on diseases of the liver, because RNA-carrying particles tend to accumulate in that organ.

6 Mar 2019

Causes of disease including infant cancer can be revealed with new tool from Princeton University research team

Machine learning is being used to gain insight into the causes of hundreds of diseases, with Princeton University researchers discovering four specific genes that contribute to infant cancer.

4 Mar 2019

New multi-year affiliation announced to establish global center for rare diseases

The University of Oxford and University Hospitals in Cleveland, Ohio, today announced a multi-year affiliation to establish a global center for rare diseases.

1 Mar 2019

Drug increases melanin production in some people with albinism

A small pilot clinical study at the National Eye Institute suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B, a rare genetic disease that causes pale skin and hair and poor vision.

21 Feb 2019

BGU develops new AI platform for monitoring and predicting ALS progression

Ben-Gurion University of the Negev has developed a new artificial intelligence (AI) platform for monitoring and predicting progression of neurodegenerative diseases to help identify markers for personalized patient care and improve drug development.

20 Feb 2019

Multinational initiative to study familial primary distal renal tubular acidosis

In addition to regulating the body's fluid balance, by excreting greater or smaller amounts of urine, the kidneys also maintain the proper balance of electrolytes (salts) and the pH (an acid-base equilibrium) within our body.

19 Feb 2019

When genomic sequencing fails to diagnose a rare disease

Routine sequencing has given unprecedented insight into the genetics of rare diseases, but genomics fails to diagnose up to half of patients who are tested. That's the problem German scientists tackled in a recent study in the journal Molecular & Cellular Proteomics.

11 Feb 2019

Creative solutions to enhance patient's point of view in neuromuscular research

The old-fashioned paternalistic relationship between doctors and patients has gradually evolved into a more collaborative one in the era of patient-centered medicine.

7 Feb 2019

Researchers describe first case of patient affected by dysfunctions in SLC28 gene family

A research team has described the first case of a patient affected by dysfunctions in a nucleoside transporter of the SLC28 gene family, which brings a set of genes which were not related to human pathologies in the scientific bibliography so far.

5 Feb 2019

NIH grants awarded to Nanoscope to recruit talent and develop optogenetic delivery platforms

Retinal dystrophies such as Age-related macular degeneration (AMD) are a major cause of vision loss in aging populations. National Eye Institute (NEI) estimates that the prevalence of advanced AMD will grow to nearly 3 million by 2020.

29 Jan 2019

Women with IBD have increased risk of developing mental illness, finds study

A study published today in the journal Gut shows that women with inflammatory bowel disease are at greater risk of developing a mental illness after giving birth compared to the overall population.

10 Jan 2019

FDA approves new treatment for rare disease of the bone marrow and blood

The U.S. Food and Drug Administration today approved Elzonris (tagraxofusp-erzs) infusion for the treatment of blastic plasmacytoid dendritic cell neoplasm in adults and in pediatric patients, two years of age and older.

21 Dec 2018

WU biomedical engineer makes a significant step toward precision medicine

In 2015, then President Barack Obama launched a precision medicine initiative, saying that its promise was "delivering the right treatments, at the right time, every time to the right person.

20 Dec 2018

Potential combination therapy against rare disease of the bone marrow could improve treatment

Myelofibrosis is a severe and very rare hematological disease for which treatment has only been partially effective to date. Its low incidence rate is one of the reasons why effective therapies are still lacking.

19 Dec 2018

Sickest children could benefit from split liver transplants

In a review of registry data for more than 5,300 liver transplants performed in children nationwide, Johns Hopkins Medicine researchers identify the type of patient who is most likely to survive a split liver transplant--receiving only part of a donor's liver--with no additional long-term health risks, which could allow for an increase in the availability of organs.

18 Dec 2018