X chromosome

Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of fragile X syndrome, 28/07/2015 Positive

Retrieved on: 
Tuesday, April 9, 2024
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Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of fragile X syndrome, 28/07/2015 Positive

Key Points: 


Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of fragile X syndrome, 28/07/2015 Positive

Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of Rett syndrome, 10/08/2015 Positive

Retrieved on: 
Tuesday, April 9, 2024
Eurostat, Diagnosis, Civil service commission, Speech, X chromosome, Brain, Medicine, MECP2, Disease, Laxative, Seizure, Nervous system, Patient, Chromosome, Committee, Knowledge, Constipation, Regulation, EMA, IRIS, Rett syndrome, Male, Intellectual disability, Clinical trial, European, COMP, Safety, European Commission, Marketing, Parent, Syndrome, DSM-IV codes, Anatomical pathology, Pharmaceutical industry

Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of Rett syndrome, 10/08/2015 Positive

Key Points: 


Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of Rett syndrome, 10/08/2015 Positive

Scientists find the last remnants of the human genome that were missing in the Y chromosome

Retrieved on: 
Wednesday, August 23, 2023
Science, Male, DNA, Human, Nature, Birth, Woman, Research, Cell, X chromosome, Man, SRY, Chromosome, Reading, Gene, News, Genome, Egg, Antibiotics, Vaccine

While the first version was full of “holes” representing missing DNA sequences, the genome has been gradually improved in successive rounds.

Key Points: 
  • While the first version was full of “holes” representing missing DNA sequences, the genome has been gradually improved in successive rounds.
  • The fundamental difficulty researchers faced in reading the genome from end to end is the enormous number of repeated sequences that populate it.
  • The 20,000 or so genes we humans have occupy barely 2% of the entire genome.

The Y chromosome, finally complete

    • There are actually 23 pairs of chromosomes, 22 pairs of autosomal chromosomes (1 to 22) and one pair of sex chromosomes (which can be X or Y).
    • Most males have the 46XY chromosome configuration, meaning that the sex chromosome pair consists of an X and a Y chromosome.
    • Alongside the complete sequence of the Y chromosome, Nature has published a second study on the sequences of 43 Y chromosomes derived from humans who lived over the last 183,000 years.
    • Their analysis reveals great diversity in both the size and structure of this Y chromosome over the course of evolution.

The pangenome initiative

    • They come on the heels of the pangenome initiative, which aims to capture the genetic variability that exists among human beings.
    • With the pangenome initiative, we will no longer have a single reference genome, but hundreds that will more reliably illustrate our genetic similarities and differences.

Fragile X syndrome often results from improperly processed genetic material – correctly cutting RNA offers a potential treatment

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Wednesday, July 26, 2023
People, Molecular biology, Asos, DNA, CGG, Travel, Spinal muscular atrophy, Attention deficit hyperactivity disorder predominantly inattentive, Spectrum, Deficit spending, Mutation, Brain, Research, Cell, RNA, Cerebrospinal fluid, DSM-IV codes, X chromosome, Protein, Fragile X syndrome, Genetic disorder, Patient, FMR1, Gene, Mouse, Neurology, Vaccine, Antibiotics

We recently discovered that the mutated gene responsible for fragile X syndrome is active in most people with the disorder, not silenced as previously thought.

Key Points: 
  • We recently discovered that the mutated gene responsible for fragile X syndrome is active in most people with the disorder, not silenced as previously thought.
  • But the affected gene on the X choromosome is still unable to produce the protein it codes for because the genetic material isn’t properly processed.
  • Correcting this processing error suggests that a potential treatment for symptoms of fragile X may one day be available.
  • Having 200 or more CGG repeats silences the FMR1 gene and results in fragile X syndrome.

Insights Revealed in 2023 Turner Syndrome Pipeline Report: 4+ Companies and 4+ Promising Drugs in Focus - ResearchAndMarkets.com

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Tuesday, July 25, 2023
Genetics, Pharmaceutical, Health, Drug development, Therapy, Turner syndrome, Pituitary gland, Research, GH, Endocrine gland, X chromosome, Growth hormone, Chromosome, Patient, Southern Transcon, Ibutamoren, Pharmaceutical industry

This report presents comprehensive insights into the Turner Syndrome pipeline landscape, featuring 4+ companies and 4+ pipeline drugs.

Key Points: 
  • This report presents comprehensive insights into the Turner Syndrome pipeline landscape, featuring 4+ companies and 4+ pipeline drugs.
  • Turner Syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosomal abnormality found in females.
  • In most cases, Turner Syndrome is not inherited and results from a random event during the formation of reproductive cells.
  • Apart from Lumos Pharma and Ascendis Pharma, the report covers other companies actively engaged in developing therapies for Turner Syndrome.

Muscular Dystrophy Association Celebrates FDA Approval of Sarepta Therapeutics’ ELEVIDYS for Treatment of Duchenne Muscular Dystrophy

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Thursday, June 22, 2023
Dystrophin, US Food Sovereignty Alliance, University, Pediatrics, Duchenne muscular dystrophy, Gene, Doctor of Philosophy, Public policy, University of Washington, Weakness, Hope, Mutation, B cell, Casimersen, Associate, Lung, X chromosome, Sarepta Therapeutics, DMD, MD, Patient, Investment, Muscular Dystrophy Association, Randomized controlled trial, GTX, Golodirsen, MDA, FDA, Therapy, III, Conner, Disease, Dentistry, Medical device, Pharmaceutical industry, Duchenne

New York, June 22, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) celebrates the US Food and Drug Administration (FDA) accelerated approval of ELEVIDYS (delandistrogene moxeparvovec-rokl) for the treatment of ambulatory pediatric patients aged 4 through 5 years with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene.

Key Points: 
  • New York, June 22, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) celebrates the US Food and Drug Administration (FDA) accelerated approval of ELEVIDYS (delandistrogene moxeparvovec-rokl) for the treatment of ambulatory pediatric patients aged 4 through 5 years with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene.
  • ELEVIDYS is the first gene therapy for DMD, and is designed to target the underlying cause of the disease.
  • ELEVIDYS will be made available and marketed in the United States by Sarepta Therapeutics.
  • ELEVIDYS is a different type of technology known as gene replacement therapy that requires one-time administration to be effective.

Lupus Research Alliance Honors Carola Vinuesa, MD, PhD, for Discovering a Specific Gene Variant that Causes Lupus in Some Patients

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Thursday, June 22, 2023
Francis Crick Institute, Mouse, TLR7, Lupus Research Alliance, Weill Cornell Medicine, Guanosine, Toll-like receptor 7, Prevalence, Genetics, Federation of Clinical Immunology Societies, Attention deficit hyperactivity disorder predominantly inattentive, Australian Academy of Science, Medical Research Council, Mutation, Cas9, Research, SLE, Gottschalk Medal, Lupus, RNA, National Health and Medical Research Council, Doctor of Philosophy, Government, Autoimmunity, Assistant, FAA, The Prize, X chromosome, National Health, Patient, FRS, Immune system, Diagnosis, Bacteria, Royal Society, NHMRC, Genome, Autoantibody, Disease, Pharmaceutical industry, Vaccine, Science, MD

The Lupus Research Alliance awarded its 2023 Lupus Insight Prize to Carola Vinuesa, MD, PhD, of The Francis Crick Institute.

Key Points: 
  • The Lupus Research Alliance awarded its 2023 Lupus Insight Prize to Carola Vinuesa, MD, PhD, of The Francis Crick Institute.
  • Many lupus patients display increased TLR7 activity; however, disease-causing mutations in the TLR7 gene had not been identified.
  • "I am honored to receive this most prestigious award from the Lupus Research Alliance in recognition of our discovery of a genetic cause of lupus.
  • To determine whether the TLR7 mutation identified causes lupus, Dr. Vinuesa's team used a gene-editing tool, CRISPR/Cas9, to introduce the specific variant into mice.

Marius Pharmaceuticals Supports AXYS 2023 Virtual Family Conference, Spotlighting KYZATREX™ for XY Chromosome Variations, such as Klinefelter’s Syndrome

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Tuesday, June 20, 2023
Insurance, Syndrome, Education, TRT, Quality of life, Research, X chromosome, Klinefelter syndrome, Patient, Testosterone, American Association of Clinical Endocrinologists, Environment, Conference, Hypogonadism, Caregiver, Pharmaceutical industry

This conference serves as a significant platform for individuals and families affected by XY Chromosome Variations, including conditions such as Klinefelter's Syndrome.

Key Points: 
  • This conference serves as a significant platform for individuals and families affected by XY Chromosome Variations, including conditions such as Klinefelter's Syndrome.
  • KYZATREX™ (testosterone undecanoate), an oral medication developed by Marius Pharmaceuticals, has emerged as a viable treatment option for those with Klinefelter's Syndrome.
  • As the XY Chromosome Variations community seeks oral alternatives for testosterone replacement therapy (TRT), Marius Pharmaceuticals recognizes the significance of KYZATREX™ in meeting this demand.
  • Through ongoing efforts and patient support programs, Marius Pharmaceuticals aims to address the challenges faced by individuals with XY Chromosome Variations and enhance their quality of life.

Sex and the single gene: new research shows a genetic ‘master switch’ determines sex in most animals

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Wednesday, April 19, 2023
Lizard, Male, Rat, Bass, Man, Human, Zebrafish, Vertebrate, XY, Turtle, Platypus, Intersex, Mammal, African, Y, Reproduction, X chromosome, SRY, Animal, Chromosome, Genome, Laboratory, Island, DMRT1, XX, W, XS, Bird, Gene, Female, Egg, Pig, Nightclub, Birth control, Toy, Agriculture, Antibiotics, ZZ

In humans and other animals, sex is usually determined by a single gene.

Key Points: 
  • In humans and other animals, sex is usually determined by a single gene.
  • We conclude that sex is normally determined by a single gene.

The human ‘master switch’ for sex

    • Females make eggs, which carry a single X chromosome, while males make sperm, half carrying an X and half carrying a Y.
    • Random fusion of eggs and sperm delivers half XX females and half XY males, for a 1:1 sex ratio.

Sex in other vertebrates

    • Among animals with backbones (vertebrates), there is a huge variety of systems that determine sex.
    • Some vertebrates have the opposite – a female-dominant gene on the X chromosome.
    • If the ratio favours one sex, individuals that produce more of the other sex will leave more descendants and their genes will spread until a 1:1 ratio is achieved.

Some exceptional species

    • Then there are species with two or more pairs of sex chromosomes.
    • And what about species, like the African clawed toad, which have two copies of their whole genome, so should have two pairs of sex chromosomes and sex genes?
    • So there are lots of exceptional species that seem to have multiple sex chromosomes and sex genes in defiance of the expectation that only a single sex gene can produce a stable system.

Polygenic sex – is there any such thing?

    • In our recent paper we examine classic examples and recent claims for polygenic sex determination.
    • Multiple sex chromosomes need not mean multiple sex genes.
    • A Japanese frog has different sex chromosomes on different islands, but they are all variants of the same chromosome.
    • Strains bred independently in laboratories for 30 or 40 years have aberrant sex ratios and multiple sex genes.

Winning the war of the sex genes

    • Their problem is incompatibility of different sex chromosomes and sex genes.
    • If an XY male mates with a ZW female, offspring have all sorts of combinations of sex genes.
    • Species hybrids may reveal many genes with major and minor effects on sex determination.
    • Read more:
      Men are slowly losing their Y chromosome, but a new sex gene discovery in spiny rats brings hope for humanity

Alba Tull Makes $500,000 Gift to the Rett Syndrome Research Trust

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Tuesday, February 7, 2023
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TRUMBULL, Conn., Feb. 7, 2023 /PRNewswire-PRWeb/ -- Alba Tull has made a generous donation of $500,000 to the Rett Syndrome Research Trust (RSRT) for a clinical study to determine the ability of the Emerald biosensor to accurately measure Rett syndrome symptoms, a key factor necessary for assessing the efficacy of drugs and genetic medicines.

Key Points: 
  • Alba Tull has made a generous donation of $500,000 to the Rett Syndrome Research Trust (RSRT) for a clinical study to determine the ability of the Emerald biosensor to accurately measure Rett syndrome symptoms, a key factor necessary for assessing the efficacy of drugs and genetic medicines.
  • TRUMBULL, Conn., Feb. 7, 2023 /PRNewswire-PRWeb/ -- Alba Tull has made a generous donation of $500,000 to the Rett Syndrome Research Trust (RSRT) for a clinical study to determine the ability of the Emerald biosensor to accurately measure Rett syndrome symptoms, a key factor necessary for assessing the efficacy of drugs and genetic medicines.
  • The Emerald sensor has been used in drug development in Alzheimer's and Parkinson's; this generous gift allows for testing its efficacy in Rett syndrome.
  • "RSRT continues to set and drive Rett syndrome research, and this donation is a reflection of my confidence in their singular mission to cure Rett," said Tull.