Dr. Shinwari's research centers on the genetic underpinnings of complex conditions like Parkinson's disease and autism spectrum disorder (ASD). He conducts extensive genetic analysis to uncover mutations and variants that may play a role in these disorders. For example, in Parkinson's disease, he identified significant new genetic changes that could offer new avenues for treatment and diagnosis. He also explores childhood conditions such as juvenile idiopathic arthritis and congenital eye disorders, investigating how specific genetic factors are linked to symptoms and outcomes.
Key findings
In Parkinson's disease, Dr. Shinwari discovered 125 genetic changes across 51 patients, including 18 previously unlinked genes, enhancing the understanding of its genetic landscape.
His research on autism spectrum disorder revealed 47 unique genetic changes in 19 families, including 38 novel variants associated with brain function.
Dr. Shinwari found a notable mutation in the LACC1 gene linked to a monogenic form of systemic juvenile idiopathic arthritis in 13 patients, indicating a strong genetic connection.
In studying ataxia, he identified a mutation in the PIK3R5 gene that was absent in 477 healthy individuals, highlighting its potential role in balance and coordination issues.
His investigation into congenital fibrosis of the extraocular muscles showed significant optic nerve issues in all ten patients studied, which may affect treatment and visual outcomes.
Frequently asked questions
Does Dr. Shinwari study Parkinson's disease?
Yes, he studies the genetic factors involved in Parkinson's disease and has identified new genetic changes that could improve diagnosis and treatment.
What conditions related to autism has Dr. Shinwari researched?
He has researched autism spectrum disorder and found numerous unique genetic changes that contribute to the understanding of this condition.
Is Dr. Shinwari's research relevant to patients with eye disorders?
Yes, he has conducted significant research on various eye conditions, including congenital fibrosis of the extraocular muscles and childhood strabismus, focusing on their genetic causes.
What treatments has Dr. Shinwari researched for genetic disorders?
While his work mainly identifies genetic factors, these findings can lead to better diagnosis and help inform future treatment options for conditions like juvenile idiopathic arthritis and autism.
How does Dr. Shinwari's work benefit patients?
His research improves understanding of the genetic basis of various disorders, potentially leading to enhanced diagnosis and personalized treatment approaches.
Publications in plain English
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.
2019
Scientific reports
Yemni EA, Monies D, Alkhairallah T, Bohlega S, Abouelhoda M +14 more
Plain English This study looked at the genetic factors in 60 patients with Parkinson's disease (PD) to identify new gene variants that may contribute to the disease. They found 125 genetic changes in 51 patients, including 18 genes that haven't been linked to PD before, indicating that our understanding of the genetics behind PD is expanding. This is important because it can lead to better diagnosis and treatment options by uncovering new targets for research and therapy.
Who this helps: This benefits patients with Parkinson's disease and their doctors by providing new insights for diagnosis and potential treatments.
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
2017
Scientific reports
Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M +14 more
Plain English This study examined the genetic causes of autism spectrum disorder (ASD) by analyzing the DNA of 19 families from Saudi Arabia. Researchers found 47 unique genetic changes linked to ASD, including 38 new ones, with many involving genes critical to brain function. This research highlights the complexity of ASD's genetic background, even in families where marriage between relatives is common.
Who this helps: This helps patients with autism and their families by improving understanding of the genetic factors involved.
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
2015
Arthritis & rheumatology (Hoboken, N.J.)
Wakil SM, Monies DM, Abouelhoda M, Al-Tassan N, Al-Dusery H +6 more
Plain English This study looked at a specific type of juvenile arthritis called systemic juvenile idiopathic arthritis (JIA) in 13 patients from 5 families in southern Saudi Arabia, aiming to find the genetic cause of their condition. Researchers discovered a mutation in a gene called LACC1 that appears to play a key role in this form of JIA, marking a significant genetic link with a strong score of 11.33 for establishing a connection. This finding is important because it offers new insights into the genetics of this disease, which could lead to better understanding and treatment options for affected individuals.
Who this helps: This helps patients with systemic juvenile idiopathic arthritis and their families.
Homozygosity analysis in subjects with autistic spectrum disorder.
2015
Molecular medicine reports
Adi A, Tawil B, Aldosari M, Shinwari J, Nester M +5 more
Plain English Researchers studied genetic factors that might contribute to autistic spectrum disorder (ASD) by looking at families in Saudi Arabia where there is a lot of intermarriage. They found specific areas in the genome that showed similarities among affected individuals, particularly in genes related to brain function and development. These findings can lead to a better understanding of the genetic basis of ASD and potentially help identify new variations associated with the disorder.
Who this helps: This helps patients and their families by improving the understanding of ASD's genetic aspects.
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
2012
Human mutation
Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P +7 more
Plain English This study looked at a family with a specific type of ataxia, which involves problems with movement and coordination, and found a mutation in a gene called PIK3R5 that was not present in 477 healthy individuals. This mutation may be linked to the development of the brain areas responsible for balance and coordination. Understanding this genetic link is important because it could lead to better diagnosis and treatment for people with similar conditions.
Who this helps: This helps patients with ataxia and doctors working to diagnose and manage these disorders.
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.
2011
Molecular vision
Khan AO, Shinwari J, Omar A, Al-Sharif L, Khalil DS +3 more
Plain English This study looked at a condition called congenital fibrosis of the extraocular muscles type I (CFEOM1), which affects eye movement and alignment. Researchers examined five patients from families that were closely related, but found no mutations in the genes typically linked to this condition, indicating that a different genetic cause may be at play. This discovery is important because it points to the possibility of a recessive form of CFEOM1, which could change how we understand and diagnose the condition.
Who this helps: This helps patients with CFEOM1 and their families by providing clearer insight into potential genetic causes.
The optic nerve head in congenital fibrosis of the extraocular muscles.
2011
Ophthalmic genetics
Khan AO, Shinwari J, Omar A, Khalil D, Al-Anazi M +2 more
Plain English This study looked at the optic nerve heads of ten young patients with congenital fibrosis of the extraocular muscles (CFEOM) to see if there were any problems, like unusual shapes or size. They found that all ten patients had significant issues with their optic nerves, specifically notable disc excavation in five patients and optic nerve hypoplasia in the other five. This is important because these problems can be missed in young patients, which may affect their vision and overall treatment for CFEOM.
Who this helps: This helps patients with CFEOM and their doctors in understanding the potential vision issues linked to the condition.
Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3).
2011
Molecular vision
Khan AO, Shinwari J, Abu Dhaim N, Khalil D, Al Sharif L +1 more
Plain English This study looked at a family where some members had different types of childhood strabismus, a condition that affects eye alignment. They found a specific area on chromosome 16 (16p13.12-p12.3) that seems to be linked to this condition, indicating that all the different forms observed can be traced back to the same genetic cause. This matters because it helps us understand that childhood strabismus may be passed down in families, which could improve diagnosis and treatment options.
Who this helps: This helps patients with strabismus and their families, as well as doctors working in pediatric eye care.
Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.
2011
Archives of ophthalmology (Chicago, Ill. : 1960)
Khan AO, Shinwari J, Al-Sharif L, Khalil DS, Al Tassan N
Plain English This study looked at a specific genetic mutation (FRMD7) in families affected by infantile nystagmus, a vision disorder that causes rapid eye movements. The researchers found that while two brothers had the condition, their asymptomatic female relatives displayed a unique eye movement pattern during testing. This matters because it suggests that these women might still carry a genetic marker for the condition, even if they don’t show symptoms themselves, which could help doctors identify potential carriers in families.
Who this helps: This helps families with a history of X-linked nystagmus and their healthcare providers.
Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome.
2011
Molecular vision
Khan AO, Shinwari J, Al Sharif L, Khalil D, Al-Gehedan S +1 more
Plain English This study looked at a family with a history of a vision condition called infantile esotropia, where one or both eyes turn inward. Researchers examined the family members and found that three children had this eye condition, while a fourth child had a related syndrome. They identified specific areas on two chromosomes (3 and 6) that may be connected to the development of these eye disorders.
Who this helps: This research benefits patients with eye conditions and their families by improving understanding of the genetic factors involved.