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Researchers identify a new gene implicated in rare lysosomal storage disorder

In a rare disease called mucolipidosis type II, people’s hearts and abdomens swell, and their bones grow malformed.

6 Oct 2022

Study opens avenues to improve prognosis of children with congenital hypogonadotropic hypogonadism

Congenital hypogonadotropic hypogonadism is a rare disease characterized by delayed puberty or the complete absence of puberty in adolescence, leading to infertility.

5 Oct 2022

Treatment for neurological diseases often no longer effective enough in the later stages

Neurological diseases often begin with an inflammatory process and the degradation of the so-called myelin layer, which surrounds the nerve fibers (axons) like a protective insulating layer.

28 Sep 2022

New white paper outlines the issues surrounding delays in diagnosing interstitial lung diseases

A steering committee of pulmonary experts and primary care physicians (PCPs) released today a white paper outlining the issues surrounding delays in diagnosing interstitial lung diseases (ILDs) like pulmonary fibrosis (PF).

19 Sep 2022

Researchers identify a genetic defect in alveolar macrophages that causes lung disease

New discovery on the causes of PAP lung disease can also offer solutions for treating obesity and heart disease. The research group of Associate Professor Alexander Mildner at the University of Turku, Finland, identified a genetic defect that causes the accumulation of lipids in the pulmonary alveoli.

19 Sep 2022

Scientists unravel the molecular origin of rare genetic disease cystinosis

The rare genetic disease cystinosis is caused by mutations in the gene for a protein called cystinosin. A team of scientists has now solved the structure of cystinosin and determined how mutations interfere with its normal function, providing insights into the underlying mechanisms and suggesting a way to develop new treatments for the disease.

15 Sep 2022

Survey highlights increase in the public's knowledge about monkeypox

The public's knowledge about monkeypox has increased rapidly in recent weeks though misconceptions and uncertainty persist, and over a quarter of Americans say they are not likely to get vaccinated against monkeypox if they're exposed to it, according to a new Annenberg Public Policy Center (APPC) survey.

15 Sep 2022

C-Path secures FDA Grant for new public-private partnership to benefit people with rare neurodegenerative diseases

Critical Path Institute has announced it will serve as the convener of the Critical Path for Rare Neurodegenerative Diseases, a new public-private partnership to benefit people across multiple rare neurodegenerative diseases, supported by a grant from the U.S. Food and Drug Administration.

14 Sep 2022

Scientists estimate the impact of genetic risk factors on the loss of healthy life years

Researchers have, for the first time, systematically estimated the impact of a range of different disease-associated genetic risk factors on the loss of healthy life years. Knowing the contribution of different genetic risk factors on disease burden can help prioritise and design interventions using genetic information.

12 Sep 2022

Novel method for accurate diagnosis and treatment of uveitis

An estimated five to ten percent of blindness worldwide is caused by the rare inflammatory eye disease uveitis. Posterior uveitis in particular is often associated with severe disease progression and the need for immunosuppressive therapy.

29 Aug 2022

Marburg outbreak in Ghana causes African countries to stay alert

Africa must ramp up its surveillance and detection infrastructure in the light of an outbreak of the deadly Marburg virus in Ghana, public health leaders have warned.

23 Aug 2022

UC San Diego Health first to offer new injectable medication to patients with hereditary transthyretin amyloidosis

UC San Diego Health is first in the nation to offer a new injectable medication to patients with nerve damage caused by hereditary transthyretin amyloidosis, a rare disease that can be fatal without management.

18 Aug 2022

Wastewater surveillance expanded to detect the presence of monkeypox

An ongoing program that monitors wastewater for the presence of SARS-CoV-2 and which has effectively predicted subsequent surges in COVID-19 cases in San Diego has been expanded to detect the presence of monkeypox.

11 Aug 2022

Survey: Nearly 1 in 5 Americans are concerned about contracting monkeypox

As Covid-19 cases surge across the United States dominated by a highly transmissible subvariant and worry about Covid persists, some in the public have begun to voice concern about the new health threat of monkeypox, according to a new Annenberg Public Policy Center national survey.

29 Jul 2022

New method for organoid production could help advance research studies

As the idea of growing tiny human organs in lab dishes has moved in recent years from futuristic science fiction to actual bioscientific reality, the usefulness of organoids as a research tool for studying the digestive system swiftly encountered a bottleneck-;these valuable tissues are quite difficult to make.

28 Jul 2022

Study confirms link between Epstein-Barr virus and multiple sclerosis

Researchers investigate the association between Epstein-Barr virus infection and multiple sclerosis.

26 Jul 2022

Parents become drug developers to save their children’s lives

Maggie Carmichael wasn't developing like other kids. As a toddler, she wasn't walking and had a limited vocabulary for her age.

21 Jul 2022

Hollings researcher awarded grant to continue research into mechanisms behind medulloblastoma relapse

When MUSC Hollings Cancer Center researcher Jezabel R. Blanco, Ph.D., began studying neurosciences, first as a graduate student and later as a postdoctoral fellow, her research was focused on understanding the mechanisms underlying brain disease, both in the context of neurodegeneration and cancer, but mostly from a basic research angle.

20 Jul 2022

New chemical biological tools could help better understand the progression of Parkinson's disease

Researchers are a step closer to understanding how Parkinson's disease develops and progresses thanks to chemical biological tools developed at Simon Fraser University.

13 Jul 2022

DZNE and Intravacc receive € 2.5 million EU funding to develop a prototype ALS vaccine

DZNE and Intravacc B.V., a world leading contract development and manufacturing organization (CDMO) of preventive and therapeutic vaccines, have been awarded a funding of € 2.5 million from the European Union (EIC Transition Grant) to further develop a prototype ALS vaccine, including process development, scale-up, and toxicology study.

6 Jul 2022