Rare Disease News and Research

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Study elucidates why it takes a long time to diagnose life-threatening rare diseases

Regular episodes of severe pains in the abdomen and mysterious swellings had become the new normal for Yuki - for 20 years.

19 Apr 2022

Researchers make progress to develop a drug for treating metabolic syndrome

Metabolic syndrome increases a person's risk for diabetes, heart disease, and stroke, and includes conditions such as obesity, high blood pressure and high blood sugar.

11 Apr 2022

International report offers recommendations to reduce school-related sedentary behavior in children

An international report with recommendations designed to counteract school-related sedentary behaviour in children and youth, exacerbated by COVID-19 pandemic restrictions, has been released by the Sedentary Behaviour Research Network (SBRN), in partnership with the University of Prince Edward Island and the CHEO Research Institute.

5 Apr 2022

$4 million program launched to find transformative therapies for ADNP syndrome

Researchers at the UC Davis MIND Institute are launching a $4 million program to find transformative therapies for ADNP syndrome. The rare genetic condition causes developmental delays and can affect the brain, heart, gastrointestinal system and more.

29 Mar 2022

Review: Common clinical features of pediatric antiphospholipid syndrome

Each year, around two of every 100,000 American adults receive a new diagnosis of antiphospholipid syndrome, or APS, an autoimmune disease known to cause inflammation and recurring, potentially fatal, blood clots.

22 Mar 2022

Study takes a new approach to looking at de novo genetic variants in autism

About 1 in 44 children in the U.S. are diagnosed with autism spectrum disorder (ASD) by the age of 8, according to the 2018 Centers for Disease Control and Prevention surveillance. How a child's DNA contributes to the development of ASD has been more of a mystery.

15 Mar 2022

NCCN publishes new resources for treating rare tumor types

The National Comprehensive Cancer Network-;an alliance of leading cancer centers-;today announced the publication of new NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Ampullary Adenocarcinoma.

9 Mar 2022

Study reveals new insights on how immune system cells respond to disease-causing pathogens

In laboratory experiments involving a class of mutations in people with a rare collection of immune system disorders, Johns Hopkins Medicine researchers say they have uncovered new details about how immune system cells respond to disease-causing bacteria, fungi and viruses such as SARS-CoV-2.

8 Mar 2022

World's largest genetic study reveals fresh details about severe Covid-19

The world's largest study of the genetics of critical Covid-19, involving more than 57,000 people, has revealed fresh details about some of the biological mechanisms behind the severe form of the disease.

7 Mar 2022

New DNA test can quickly and accurately identify a range of hard-to-diagnose genetic diseases

A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

4 Mar 2022

Tiny lipid-based nanoparticles carry genetic instructions directly into the lungs

Researchers at the Tufts University School of Engineering are building a reputation for precision targeting in drug delivery.

23 Feb 2022

Codiak's publication highlights the ability of exoASO-STAT6 to selectively target tumor-associated macrophages

Codiak BioSciences, Inc., a clinical-stage biopharmaceutical company pioneering the development of exosome-based therapeutics as a new class of medicines, today announced the online publication of a new manuscript, Exosome mediated genetic reprogramming of tumor associated macrophages by exoASO-STAT6 leads to potent monotherapy anti-tumor efficacy, in the American Association for the Advancement of Science's journal, Science Advances.

18 Feb 2022

Artificial intelligence uses facial features to better diagnose rare genetic diseases

Rare genetic diseases can sometimes be recognized through facial features, such as characteristically shaped brows, nose or cheeks.

10 Feb 2022

Gene variants associated with acute kidney injury in Black veterans hospitalized with COVID-19

Gene variants increased the risk of acute kidney injury and death in veterans of African ancestry who were hospitalized with COVID-19, according to a new study published in JAMA Internal Medicine.

10 Feb 2022

C-Path and EJP RD collaborate to expand global rare disease research and drug development

Critical Path Institute (C-Path), an independent global nonprofit organization, and the European Joint Programme on Rare Diseases (EJP RD), an initiative that has received funding from the European Union's Horizon 2020 research and innovation programme, have announced a collaboration to advance technologies and methodologies that are fit for regulatory purposes to further global rare disease research and drug development.

1 Feb 2022

Genetic diagnosis in cerebral palsy patients could change the approach to care

Cerebral palsy, a non-progressing motor impairment that begins in early childhood, has widely been viewed as the result of oxygen deprivation during birth or other birth-related factors such as prematurity.

25 Jan 2022

Novel gene therapy for diseased muscle fiber repair

In this interview, News-Medical speaks to Dr. Jyoti K. Jaiswal about his latest research into gene therapies for limb-girdle muscular dystrophy 2B.

24 Jan 2022

CENTOGENE teams up with Insilico Medicine to improve therapeutic targets for Niemann-Pick disease type C

A commercial-stage company focused on generating data-driven insights to diagnose, understand and treat rare diseases, and Insilico Medicine, an end-to-end Artificial Intelligence (AI) - driven drug discovery company, today announced a research and development collaboration to accelerate the discovery of novel therapeutic targets for Niemann-Pick disease type C

21 Jan 2022

Discovery opens up the possibility of pursuing new therapies for FOP

Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by extensive bone growth outside of the normal skeleton that pre-empts the body's normal responses to even minor injuries. It results in what some term a "second skeleton," which locks up joint movement and could make it hard to breathe.

16 Jan 2022

Multiple sclerosis may be caused by infection with the Epstein-Barr virus

Multiple sclerosis (MS), a progressive disease that affects 2.8 million people worldwide and for which there is no definitive cure, is likely caused by infection with the Epstein-Barr virus (EBV), according to a study led by Harvard T.H. Chan School of Public Health researchers.

13 Jan 2022