Rare Disease News and Research

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SARS-CoV-2 infection could increase the risk of brain degeneration seen in Parkinson's disease

Brain fog, headaches, insomnia are some of the neurological symptoms doctors have observed in COVID-19 patients.

18 May 2022

Study highlights the economic burden affecting individuals with sickle cell disease

In a study published today in Blood Advances, researchers found that privately insured individuals with sickle cell disease (SCD) spend approximately $1.7 million on disease-related medical expenses over their lifetime.

16 May 2022

Researchers pursue a new way to use milk for delivering cancer-fighters to the brain

In health care, perhaps no word sends a more chilling message than "cancer." Brain tumors, for example, prove especially resistant to current treatments. Only 5% of patients with that condition survive more than three years and the median survival time is 10 to 14 months.

12 May 2022

Study finds link between hippocampal defects and intellectual disability in children with Joubert Syndrome

An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus.

10 May 2022

Insight into Neurological Diagnosis in Children

In this interview, we speak to Amy Brin, MSN, MA, PCNS-BC, CEO of the Child Neurology Foundation, about the current landscape of neurological diagnosis in children and the importance of helping patients and their families through the diagnosis and treatment process.

6 May 2022

DNA analysis of tumors uncovers a 'treasure trove' of clues about the causes of cancer

DNA analysis of thousands of tumors from NHS patients has found a 'treasure trove' of clues about the causes of cancer, with genetic mutations providing a personal history of the damage and repair processes each patient has been through.

21 Apr 2022

Scientists create a bioengineered 3D model that mimics the biology of two rare neuromuscular diseases

A scientific team supported by the National Institutes of Health has created a tiny, bioengineered 3-D model that mimics the biology of chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy, a pair of rare, devastating neuromuscular diseases.

19 Apr 2022

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