CRISPR Gene Editing Successfully Stops Muscular Dystrophy In Living Mice
If used on humans, the treatment could save hundreds of lives per year
CRISPR Gene Editing Successfully Stops Muscular Dystrophy In Living Mice
If used on humans, the treatment could save hundreds of lives per year
X-linked spinal muscular atrophy type 2
X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in th...
Haemophilia B
Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the factor IX gene, leading to a deficiency of factor IX. It is the second-most common form of haemophilia, rarer t...
Simpson–Golabi–Behmel syndrome
Simpson–Golabi–Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplasia gigantism syndrome (DGSX), is ...
Norrie disease
Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness. In addition to the congenital ocular symptoms, some patients suffer from a progressive hearing...
Endocardial fibroelastosis
Endocardial Fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old and younger. It may also be considered a reaction to stress, not necessarily a specific disease.It...
Becker's muscular dystrophy
Becker muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and p...
X-linked recessive chondrodysplasia punctata
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.It cau...
X-linked intellectual disability
X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance.As w...
Ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder is the final enz...
Creatine transporter defect
Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain. The condition was initially described in reports in 2001. H...
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, mental retardation, proximal tubular acidos...
Pelizaeus–Merzbacher disease
Pelizaeus–Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
The disease is one i...
MASA syndrome
MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome, is a rare X-linked recessive neurological disorder. The acronym "MASA" describes the four major symptoms - Mental retardation, Apha...
Ocular albinism
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar.Both kno...
Menkes disease
Menkes disease (MNK), also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the bod...
Menkes disease - Wikipedia
FG syndrome
FG syndrome (FGS; also known as Opitz–Kaveggia syndrome) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental d...
FG syndrome - Wikipedia
Ocular albinism type 1
Ocular Albinism type 1 (OA1), also called as Nettleship-Falls syndrome, is the most common type of Ocular Albinism with a prevalence rate of 1:50,000. It is an inheritable classical Mendelian type X-l...
Haemophilia A
Haemophilia A is a genetic deficiency in clotting factor VIII, which causes increased bleeding and usually affects males. About 70% of the time it is inherited as an X-linked recessive trait, but aro...
Adrenoleukodystrophy
Adrenoleukodystrophy (also known as X-linked adrenoleukodystrophy, ALD, X-ALD, adrenomyeloneuropathy, AMN, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disorder of peroxisomal fatty...
McLeod syndrome
McLeod syndrome (or McLeod phenomenon; /məˈklaʊd/) is a X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessi...
Fabry disease
Fabry disease (/ˈfɑːbri/) (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, in...
Say–Meyer syndrome
Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly (...
Occipital horn syndrome
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder. It is caused by a deficiency in the transport of the essent...
Renpenning's syndrome
Renpenning's syndrome is a neurodevelopmental disorder recognised in males that causes intellectual disability, mild growth retardation with examples in the testes and head, and a somewhat short stat...
Smith–Fineman–Myers syndrome
Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Ju...
Smith–Fineman–Myers syndrome - Wikipedia
Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a mishaped nose, broad...
Nasodigitoacoustic syndrome - Wikipedia
Lorenzo Odone
Lorenzo Michael Murphy Odone (May 29, 1978 – May 30, 2008) was an Italian-American adrenoleukodystrophy (ALD) patient whose parents, Augusto and Michaela Odone, sought a treatment for the disease and ...
Lorenzo Odone - Wikipedia