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Hutchinson-Gilford Progeria Syndrome can be compared to normal aging, say scientists

In a new research study, scientists from Vision Genomics, LLC, Insilico Medicine, Inc., and Howard University showed that Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria) is comparable to normal aging with respect to cellular signaling pathways, and that HGPS truly recapitulates the normal aging process.

28 Jan 2015

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

An international group co-led by University of Alabama at Birmingham researcher Mary MacDougall, Ph.D., has unraveled the molecular basis for the rare, inherited genetic disorder, Singleton-Merten Syndrome (SMS). Individuals with SMS develop extreme, life-threatening calcification of the aorta and heart valves, early-onset periodontitis and root resorption of the teeth, decreases in bone density, and loss of bone tissue at the tips of fingers and toes.

23 Jan 2015

Researchers uncover new gene tied to incurable eye disorder

An exhaustive hereditary analysis of a large Louisiana family with vision issues has uncovered a new gene tied to an incurable eye disorder called retinitis pigmentosa, according to an examination led by scientists at The University of Texas Health Science Center at Houston.

16 Jan 2015

Two UTHealth professors selected as AAAS Fellows for their efforts to prevent blindness

Two professors in the School of Public Health at The University of Texas Health Science Center at Houston - Stephen Daiger, Ph.D., and Robert Hardy, Ph.D. - have been elected to the rank of Fellow in the American Association for the Advancement of Science for their efforts to prevent blindness.

14 Jan 2015

Progression to combined pituitary hormone deficiency common in IGHD

Researchers have found that a high proportion of children initially diagnosed with isolated growth hormone deficiency will progress to combined pituitary hormone deficiency.

22 Dec 2014

Chemical chaperone: A new therapeutic option for epilepsy

Researchers found out that the conformational defect in a specific protein causes Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) which is a form of familial epilepsy. They showed that treatment with chemical corrector called "chemical chaperone" ameliorates increased seizure susceptibility in a mouse model of human epilepsy by correcting the conformational defect.

10 Dec 2014

NIH study finds limited kidney benefit from more rigorous blood pressure treatment

Using two drugs was no more effective than a single drug in slowing disease progression in people with autosomal dominant polycystic kidney disease (ADPKD), according to two studies funded by the National Institutes of Health. One of the studies also showed that rigorous blood pressure treatment slowed growth of kidney cysts, a marker of ADPKD, but had little effect on kidney function compared to standard blood pressure treatment.

17 Nov 2014

Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

20 Oct 2014

New mutations in cat genome identified as causes of human eye diseases

Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative today announced groundbreaking discoveries of novel mutations in the cat genome found to correlate to two human eye diseases, retinitis pigmentosa and Leber's Congenital Amaurosis.

16 Oct 2014

BloodCenter's Erythroid Chimerism test available to monitor transplanted SCD patients

BloodCenter of Wisconsin's Diagnostic Laboratories today announced the availability of an innovative Erythroid Chimerism test to monitor erythroid lineage chimerism in patients with sickle cell disease (SCD) following allogeneic bone marrow transplantation.

28 Aug 2014

BAI and Novartis determine whether investigational drugs can prevent symptoms of Alzheimer's

Researchers from the Banner Alzheimer's Institute (BAI) today announced a partnership with Novartis in a pioneering medical trial to determine whether two investigational anti-amyloid drugs-an active immunotherapy and an oral medication-can prevent or delay the emergence of symptoms of Alzheimer's in people at particularly high risk for developing the disease at older ages.

15 Jul 2014

Otsuka Pharmaceutical begins tolvaptan Phase 3b study in patients with ADPKD

Otsuka Pharmaceutical Development & Commercialization, Inc., announced today that patient enrollment has begun for a new Phase 3b study of tolvaptan for adult patients with autosomal dominant polycystic kidney disease (ADPKD), the most common, life-threatening, inherited genetic kidney disorder.

11 Jun 2014

Study: Pravastatin slows down growth of kidney cysts in children, young adults with ADPKD

Results from a study by University of Colorado School of Medicine researchers show that pravastatin, a medicine widely used for treatment of high cholesterol, also slows down the growth of kidney cysts in children and young adults with autosomal dominant polycystic kidney disease (ADPKD).

9 May 2014

Diagnosis of Huntington's disease requires combination of clinical symptoms, radiological changes, genetic diagnosis

Huntington's disease is an autosomal-dominant inherited neurodegenerative disease with a distinct phenotype, but the pathogenesis is unclear.

6 May 2014

Positive results from pivotal clinical trial of Trophos’ olesoxime in SMA patients to be presented at AAN 2014

Trophos and AFM-Telethon today announce that data from the pivotal clinical trial of Trophos’ lead product candidate olesoxime in spinal muscular atrophy (SMA) will be presented during the 66th American Academy of Neurology annual meeting to be held in Philadelphia, PA, USA, from April 26 to May 3 2014.

29 Apr 2014

Researchers examine link between alcoholism and loss of muscle strength

Muscle weakness is a common symptom of both long-time alcoholics and patients with mitochondrial disease. Now researchers have found a common link: mitochondria that are unable to self-repair.

22 Apr 2014

Synageva announces publication of LAL Deficiency review in Atherosclerosis

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, today announced the publication of an overview of lysosomal acid lipase deficiency (LAL Deficiency) in the online version and an upcoming print edition of Atherosclerosis, the official journal of the European Atherosclerosis Society.

21 Apr 2014

Researchers identify two new genes associated with intellectual disability

Researchers at the Centre for Addiction and Mental Health have discovered two new genes linked to intellectual disability, according to two research studies published concurrently this month in the journals Human Genetics and Human Molecular Genetics.

1 Apr 2014

Genable Technologies, Spark Therapeutics to advance novel therapy for rare form of retinitis pigmentosa

Spark Therapeutics and Genable Technologies announced today that they have entered into a collaboration agreement for Genable's lead therapeutic to treat rhodopsin-linked autosomal dominant retinitis pigmentosa (RHO adRP), GT038.

25 Mar 2014

Otsuka obtains regulatory approval in Japan for pharmacological treatment of ADPKD

Otsuka Pharmaceutical Co., Ltd. today announced it has become the first company in the world to obtain regulatory approval for a pharmacological treatment of autosomal dominant polycystic kidney disease (ADPKD). Samsca (generic name: tolvaptan) has been approved in Japan in 7.5-mg and 15-mg tablet forms for extended use for the additional indication of ADPKD. Also, the new dosage form of 30-mg Samsca tablets has received approval for the indication of ADPKD.

24 Mar 2014