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LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. [More]
Advances in inhaled drug delivery: an interview with Dr Robert Clarke

Advances in inhaled drug delivery: an interview with Dr Robert Clarke

Delivering drugs to the lungs via inhalation has a number of potential advantages over traditional routes of administration like pills or injections. For treating pulmonary diseases, the obvious logic we are applying is topical delivery to the airways via inhalation. [More]
Using NMR to investigate intrinsically disordered proteins: an interview with Dr Isabella Felli

Using NMR to investigate intrinsically disordered proteins: an interview with Dr Isabella Felli

“IDPs” is now a widely used acronym that stands for “intrinsically disordered proteins.” It is the term generally used by the scientific community to refer to a wide variety of proteins that do not have a stable 3D structure and are instead characterized by a high extent of local mobility, disorder and many conformers that are accessible at room temperature. [More]
New collaborative research program connects canine and human cancers

New collaborative research program connects canine and human cancers

A new collaborative research program pairs oncologists who treat childhood and adult sarcomas with veterinarians who manage the same cancers in canine patients. [More]
PharmaMar announces initiation of pivotal plitidepsin clinical trial in patients with T-cell lymphomas

PharmaMar announces initiation of pivotal plitidepsin clinical trial in patients with T-cell lymphomas

PharmaMar today announced the start of a multicenter, prospective, pivotal study to analyze the efficacy of the antitumoral compound of marine origin, plitidepsin in patients with relapsed and refractory angioimmunoblastic T-cell lymphoma. [More]
Lund researchers discover two new types of childhood leukaemia

Lund researchers discover two new types of childhood leukaemia

Through a detailed study of leukaemia cells from more than 200 children, a research group at Lund University in Sweden has discovered two new types of childhood leukaemia. [More]
Existing immunotherapy drug pembrolizumab shows promise for specific sarcoma subtypes

Existing immunotherapy drug pembrolizumab shows promise for specific sarcoma subtypes

An existing cancer immunotherapy drug reduces tumor size in some types of rare connective tissue cancers, called sarcomas, report researchers at the University of Pittsburgh Cancer Institute. [More]

Nonprofits partner to raise awareness of scleroderma

If you've ever silently questioned someone wearing mittens on a warm spring day, the answer may be scleroderma. Or wondered why a woman, who otherwise appeared middle-aged, wore a face as wrinkle-free as her teenage daughter. The answer may be scleroderma. [More]
Studies explore possible link between pediatric cancer and light therapy for newborn jaundice

Studies explore possible link between pediatric cancer and light therapy for newborn jaundice

Two new studies raise enough questions about a possible link between childhood cancer and light therapy for newborn jaundice that clinicians should exercise caution in prescribing the treatment for infants whose jaundice is likely to resolve on its own, a pediatric oncologist from Dana-Farber/Boston Children's Cancer and Blood Disorders Center argues in an editorial published today by the journal Pediatrics. [More]
Penn State researchers link mutation in common virus to fatal brain disease

Penn State researchers link mutation in common virus to fatal brain disease

Why people on immunosuppressant drugs for autoimmune conditions have a higher incidence of an often-fatal brain disease may be linked to a mutation in a common virus, according to researchers at Penn State College of Medicine. [More]
Research shows close similarities of canine models of human rare disorders

Research shows close similarities of canine models of human rare disorders

Professor Hannes Lohi's research group at the University of Helsinki has discovered three novel canine genes for Caffey, Raine and van den Ende-Gupta syndromes. Research reveals close similarities of the canine models of human rare disorders and highlights the potential of comparative research approach for the development of rare disease diagnostics and treatments. [More]
Birmingham Women's Hospital leads the way in genomic diagnosis

Birmingham Women's Hospital leads the way in genomic diagnosis

Birmingham Women's Hospital (BWH) has adopted a radical new technology to make it easier to identify rare diseases by their genetic causes, leading to a faster and more accurate diagnosis for the patient. The technology being used to do this is called Sapientia™ and it is facilitating the reclassification of disease. [More]
New BSR report sets roadmap to enhance care for individuals with rare rheumatic and musculoskeletal conditions

New BSR report sets roadmap to enhance care for individuals with rare rheumatic and musculoskeletal conditions

The British Society for Rheumatology has today launched a report setting out a programme of work to enhance care for people with rare rheumatic and musculoskeletal conditions. [More]
Shire launches awareness campaign to improve lives of people with rare MPS

Shire launches awareness campaign to improve lives of people with rare MPS

Shire plc announces a campaign to enable people to connect and share information about MPS (mucopolysaccharide) diseases around the world. [More]
Finding treatments for rare diseases: an interview with Dr Richard Thompson

Finding treatments for rare diseases: an interview with Dr Richard Thompson

It is estimated that around 400 rare diseases have licenced treatments, and a large proportion of these are a consequence of orphan drug legislation, which has helped to incentivise the production of drugs for small patient populations. [More]
Radiation therapy better than chemotherapy for stage IIa testicular cancer patients

Radiation therapy better than chemotherapy for stage IIa testicular cancer patients

A large study of testicular cancer patients has shown that radiation therapy is a better treatment than chemotherapy for patients with stage IIa disease (where one or more regional lymph nodes contain cancer cells but they are less than 2cms in diameter). [More]
Rare germ cell tumor creates unique bond between two young women

Rare germ cell tumor creates unique bond between two young women

Morgan Ellison and Madison McDaniel were diagnosed with a rare germ cell tumor of the ovary earlier this year. The two strangers would soon form a unique bond during their treatment in Birmingham, Alabama. [More]
Study shows pulmonary alveolar proteinosis can be cured by single transfer of monocytes

Study shows pulmonary alveolar proteinosis can be cured by single transfer of monocytes

Researchers from VIB-UGent reveal that adult circulating monocytes that get access to the macrophage niche in the liver or the lung can acquire identical tissue-specific macrophage functions and self-maintenance capacities as macrophages of embryonic origin. [More]
New therapy strategy for liver disease shows initial measureable success with norUrso

New therapy strategy for liver disease shows initial measureable success with norUrso

The new therapy strategy for primary sclerosing cholangitis, a liver disease that at present still cannot be cured with medication, shows initial measureable success with the nor-ursodeoxycholic acid (norUrso). [More]
Complete genetic map of scleroderma opens door for diagnosis and targeted treatment

Complete genetic map of scleroderma opens door for diagnosis and targeted treatment

Scleroderma is an autoimmune disease that affects one out of every 10,000 people in Europe and North America, mostly middle-aged women, and causes death in a high percentage of cases. [More]
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