Succinic semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5a1, ALDH5A1;
EC 1.2. 1.24; OMIM 610045, 271980) deficiency is a rare heritable disorder that disrupts the …

Neurodegenerative disorders are highly heterogeneous for the locations affected and the
nature of the aggregated proteins. Nearly 80% of the neurodegenerative disorders occur …

The meaning of terms Integrated and Integrative are described variously by an amalgam of
latest scientific advances with ancient healing systems, of complementary medicine and …

Standing on the Shoulders of Darwin and Mendel: Early Views of Inheritance explores early
theories about the mechanisms of inheritance. Beginning with Charles Darwin's now …

In 1928, Frederick Griffith demonstrated a transmission process of genetic information by
transforming Pneumococcus. In 1944, Avery et al. demonstrated that Griffith's transforming …

Introduction Alkaptonuria is a rare genetic disorder of tyrosine metabolism due to a defect in
the enzyme homogentisate 1, 2-dioxygenase. Excessive homogentisic acid accumulation …

Precision Medicine is an emerging concept in clinical care. It is defined as provision of care
for diseases that can be precisely diagnosed, whose causes are understood, and which …

INTRODUCTION the clinician in assessing both endogenous and exogenous factors that
limit metabolic pathways and shows that organic acid testing ultimately leads to …

1. Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, et al. FGFR1 is fused with a
novel zinc-finger gene, ZNF198, in the t (8; 13) leukaemia/lymphoma syndrome. Nat Genet …

Genetics, like all scientific disciplines, is a human endeavor. Thus, the lives of geneticists-
their friendships, colleagues and associations-play an important role in the historical …