Rare Disease News and Research

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Recognizing CDKL5 Deficiency Disorder

News-Medical speaks to Dr. Dan Lavery about the LouLou Foundation, a non-profit organization dedicated to CDLK5 Deficiency Disorder.

17 Mar 2020

Two common Staph bacteria living on human skin exacerbate Netherton syndrome

Netherton syndrome, a rare skin disease caused by a single genetic mutation, is exacerbated by the presence of two common Staphylococcal bacteria living on human skin, one of which was previously thought to only offer protective properties, report University of California San Diego School of Medicine researchers.

3 Mar 2020

Gene therapy regenerates functional new neurons in mouse models of HD

Huntington's disease (HD) is a rare disease characterized by abnormal chorea movement and caused by Huntingtin (Htt) gene mutation and neurodegeneration in a brain area called striatum.

28 Feb 2020

Study contributes to better understanding of rare KAT6A syndrome

A research team has described five new cases of a rare disease -known as KAT6A syndrome- of which there are only eighty dominant cases worldwide.

26 Feb 2020

UCI neuro-oncologist uses comprehensive approach to battle brain cancer

When you're facing a cancer diagnosis with an average survival span of 12 to 18 months, every milestone is a victory.

23 Feb 2020

'Stranger Things' increased public awareness of cleidocranial dysplasia

A new study published in February 2020 in the journal JAMA Otolaryngology-Head and Neck Surgery shows that using mainstream media to depict rare diseases in a realistic manner can prompt greater public awareness and support for such conditions.

20 Feb 2020

A143T variant of the GLA gene likely to cause late-onset Fabry cardiomyopathy

The A143T variant of the GLA gene is associated with an increased risk of Fabry cardiomyopathy, according to a new study.

13 Feb 2020

Fossilized dinosaur tail is home to a 60-million-year-old tumor

The fossilized tail of a young dinosaur that lived on a prairie in southern Alberta, Canada, is home to the remains of a 60-million-year-old tumor.

11 Feb 2020

Finding the origins of angiosarcoma

In a new study published in the journal Nature Medicine on February 2020, scientists report some newly discovered reasons for the occurrence of a rare blood vessel wall cancer called angiosarcoma. This could one day help develop better therapies for this aggressive tumor. The project is a striking example of unexpectedly rich findings from a crowd-sourced venture that brings together a scattered group of patients with a rare disease.

10 Feb 2020

Study underscores the need for more precise rare disease definitions

Some diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them.

5 Feb 2020

Study shows how gene therapy may help protect against vision loss in multiple sclerosis

New research by Dorothy P. Schafer, PhD, at the University of Massachusetts Medical School, reveals the molecular process in which synaptic connections in the brain are damaged in multiple sclerosis and how this contributes to neurodegenerative symptoms.

21 Jan 2020

Research findings may one day help keep ALS at bay

A new study published in the journal Nature Medicine on December 23, 2019, shows how to silence a defective gene responsible for the degeneration of the motor neurons in Lou Gehrig’s disease, or amyotrophic lateral sclerosis (ALS), in adult mice. This could help prevent disease progression if the condition is already symptomatic, and even suppress the illness if it has not yet started.

23 Dec 2019

AAD honors board-certified dermatologists for treatment of a patient with aquagenic keratoderma

The American Academy of Dermatology has honored board-certified dermatologists Jean-Pierre Galliani, MD, FAAD, and Naomi Johansen, MD, FAAD, as Patient Care Heroes for their diagnosis and treatment of a patient with aquagenic keratoderma, a rare condition that causes extreme, painful wrinkles of the palms after exposure to water.

23 Dec 2019

Better definition could lead to better diagnosis, treatment for rare diseases

Thousands of rare diseases cumulatively affect millions of people across the globe, yet because each case is so rare doctors struggle to accurately diagnose and effectively treat individual patients. Every time a patient with an unspecified disorder walks into a new clinic or shows up in an emergency room, doctors must start from scratch. The patients often go through years of such experiences before they ever get a diagnosis.

26 Nov 2019

Research team publishes findings from study of TAF1 syndrome

An international, multidisciplinary research team from more than 50 institutions, led by geneticist and psychiatrist Gholson Lyon, MD, PhD, of the New York State Office for People With Developmental Disabilities' Institute for Basic Research in Developmental Disabilities, today announced publication of findings from its study of the rare disease TAF1 syndrome.

21 Nov 2019

PCORI Board approves $70 million to support projects designed to improve care for health conditions

The Patient-Centered Outcomes Research Institute Board of Governors today approved $70 million to fund 21 studies and related projects designed to improve care for health conditions that impose high burdens on patients, their families and the healthcare system.

19 Nov 2019

Tailored T-cells safe, may be effective in preventing and treating multiple viral infections

Tailored T-cells specially designed to combat a half dozen viruses are safe and may be effective in preventing and treating multiple viral infections, according to research led by Children's National Hospital faculty.

18 Nov 2019

Newly identified antibody has potential to stop, reverse pulmonary arterial hypertension

Scientists at the University of Sheffield, working in collaboration with drug and vaccine developer Kymab Ltd, Cambridge, have identified a novel antibody that has the potential to become a new treatment for pulmonary arterial hypertension (PAH).

15 Nov 2019

Study sheds light on how Zika virus causes microcephaly in newborns

A new study led by researchers at Baylor College of Medicine revealed how in utero Zika virus infection can lead to microcephaly in newborns. The team discovered that the Zika virus protein NS4A disrupts brain growth by hijacking a pathway that regulates the generation of new neurons.

14 Nov 2019

UM launches CAR-T clinical trial for patients with myasthenia gravis

Neuromuscular experts with the University of Miami Health System and the Miller School of Medicine will launch a Phase 1/2 clinical trial (NCT04146051) using the CAR-T drug, Descartes-08, to treat patients with generalized myasthenia gravis.

5 Nov 2019